RSS Episodes Archive

AES & SYNGAP1 Conf were great for SynGAP. 2 wks left to raise funds in ‘24 – #S10e156

Tuesday, December 17, 2024 Cure SYNGAP1 Conference - Resounding success https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Summary: http://www.draccon.com/dracaena-report/2024aes A few comments: https://www.linkedin.com/posts/richardnovak_clinical-rare-activity-7270806450090786816-m0OV https://www.linkedin.com/posts/haley-tokars-1b2b38209_i-had-the-privilege-of-attending-my-first-activity-7272056324090159104-xFSZ https://www.linkedin.com/posts/citizen-health-inc_aes2024-rareasone-activity-7270694148825845760-AIzF https://www.linkedin.com/posts/graglia_syngap-dreem-eeg-activity-7271993151131660288-GESyhttps://www.linkedin.com/posts/praxis-precision-medicines-inc_epilepsy-aes2024-ugcPost-7273392536130355200-x2pqhttps://www.linkedin.com/posts/syngap1-argentina-382156240_por-tercer-a%C3%B1o-consecutivo-syngap-argentina-activity-7271911668522098688-JlrW https://www.linkedin.com/posts/stoke-therapeutics_aes2024-epilepsy-activity-7273445932107538433-akYf Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25, https://investor.stoketherapeutics.com/events/event-details/understanding-dravet-syndrome-unmet-need-and-potential-disease-modification STUDIES AND TRIALS ARE HAPPENING NOW - https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/ Two trials to consider https://med.stanford.edu/autism/studies/pregnenolone-randomized-controlled-trial.html age 14-25 https://deepdeestudy.com/ list of sites: NJ & FL BONES https://youtu.be/RhaJnruZCzk?si=bnPtYPsRhOChfsH0 https://curesyngap1.org/blog/navigating-a-lifetime-of-diagnoses-michaels-syngap1-journey-and-the-effects-of-anti-seizure-medications-on-bone-density/ FUNDRAISING Coast2Coast Challenge $207,974 Syngap.Fund/C2C Join my team! https://secure.givelively.org/donate/syngap-research-fund-incorporated/coast2coast-clinics-challenge FUNDRAISE https://syngap.fund/FR CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/ VOLUNTEER SPOTLIGHT: Stacey Miller https://curesyngap1.org/team/leadership-team/stacey-miller/ Laura Bermingham of SLC6A1 https://curesyngap1.org/team/volunteers/laura-birmingham/ RESEARCH UPDATE There are 310 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded Latest are from Willsey & Frazier. Willsey: https://www.biorxiv.org/content/10.1101/2024.12.05.626924v1 Frazier: https://onlinelibrary.wiley.com/doi/full/10.1002/aur.3290 VOLUNTEER https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 1,240 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,883 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,739 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ - 464 TikTok https://www.tiktok.com/@curesyngap1 NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 156 of #Syngap10 #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

December 18, 2024

Annie – #S10e155

Tuesday, November 26, 2024 Annie Passed yesterday #SynGAPAngel https://www.linkedin.com/posts/graglia_the-syngap1-community-is-at-a-loss-as-we-activity-7267225798602874880-W9hw?utm_source=share&utm_medium=member_desktop SRF NEWS Stories just keeps getting better: https://curesyngap1.org/podcasts/syngap1-stories/stacey-miller/ New family video, use YouTube auto translate: Juliana Meza https://www.youtube.com/watch?v=NLkqswEvAQs Two trials to consider https://med.stanford.edu/autism/studies/pregnenolone-randomized-controlled-trial.html age 14-25 https://deepdeestudy.com/ list of sites: NJ & FL Two studies we all need to sign up for Sign up for Frazier https://syngap.fund/eye2 https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/ Citizen Health https://www.citizen.health/partners/srf Conference - Conference is 9 days away! Lineup: Science Day lineup - https://x.com/curesyngap1/status/1851723428677456093 Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267 Friday Join us for dinner! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-caregiver-dinner FUNDRAISING Coast2Coast Challenge $152,592 Syngap.Fund/C2C Minted Cards - 20% discount, 15% to SRF, code FUNDRAISESYNGAP - https://Syngap.Fund/Minted FUNDRAISE https://syngap.fund/FR CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/ VOLUNTEER SPOTLIGHT: Stephanie Decker https://www.linkedin.com/in/stefanie-decker-cpa-38776696/ ZOOM BACKGROUND https://drive.google.com/file/d/13jhPIBo-o1sHchEJz6KttocT1_h7GKZE/view?usp=sharing VOLUNTEER https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 1,230 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,851 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,779 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ - 456 TikTok https://www.tiktok.com/@curesyngap1 NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 155 of #Syngap10 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

November 26, 2024

Cure SYNGAP1 is firing on all cylinders! 4MTx, C2C and the Conference is almost here! #S10e154

Friday, November 15, 2024 SRF NEWS Busy week for Mike & Virginie: Citizen Health & Ultragenyx, not Milken. Sign up for Citizen Health https://www.citizen.health/partners/srf Growing our name https://curesyngap1.org/blog/syngap-research-fund-srf-announces-dba-cure-syngap1-a-new-era-in-the-search-for-a-cure/ Financials updated with 2023 https://curesyngap1.org/finances/ Thank you Stefanie Decker! Newsletter #41 - https://Syngap.Fund/NL41 - About why we need a cure - quotes from our families We're over 100 volunteer bios on the website! More being added every week! Great work Zoe! https://curesyngap1.org/team/ Cafe SYNGAP1 e24 is up! Gloria Amparo Guzmán Cali, Colombia https://syngap.fund/Cafe 4MTx Announcement and direct impact on pipeline https://www.4mtx.net/news/4m-therapeutics-compounds-to-be-utilized-in-research-project-funded-by-national-institute-on-aging-bjebr https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/ Speaking of small molecules, get this on Ravicti https://www.medrxiv.org/content/10.1101/2024.11.06.24316676v2 RESEARCH UPDATE There are 306 papers on or related to SYNGAP1 since 1998, but 48 of those are in 2024! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded Latest is from Frazier! https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16112 Sign up for Frazier https://syngap.fund/eye2 https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/ More Grants at work Science: Key Missense Webinar next week https://curesyngap1.org/resources/webinars/virtual-and-experimental-approaches-to-the-pathogenicity-of-syngap1-missense-mutations/ New study at CHOP - Phenotype of the Hispanic SYNGAP1 Family. Details (English or Spanish) at https://Syngap.Fund/CHOPEsp Bower family blog - Camden's trip to CHCO - https://Syngap.Fund/CamCHCO Thank you Corey Baysden for getting the Studies so well organized! https://curesyngap1.org/resources/studies/ Conference - Conference is 18 days away! Lineup: Science Day lineup - https://x.com/curesyngap1/status/1851723428677456093 Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267 Friday Join us for dinner! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-caregiver-dinner FUNDRAISING Coast2Coast Challenge $120,642 Syngap.Fund/C2C Minted Cards - 20% discount, 15% to SRF, code FUNDRAISESYNGAP - https://Syngap.Fund/Minted FUNDRAISE https://syngap.fund/FR CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/ VOLUNTEER SPOTLIGHT:Amber Mickler https://www.linkedin.com/posts/amber-mickler-9b3534b8_syngap1-weneedacure-raredisease-activity-7263047283305320448-GpQK ZOOM BACKGROUND https://drive.google.com/file/d/13jhPIBo-o1sHchEJz6KttocT1_h7GKZE/view?usp=sharing VOLUNTEER https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 1,220 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,847 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,815 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ - 442 TikTok https://www.tiktok.com/@curesyngap1 NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 154 of #Syngap10 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

November 16, 2024

Progress in Studies, Trials & Community Milestones; Conference #S10e153

STUDIES AND A TRIAL FRAZIER https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/ CHANGES (UK) https://curesyngap1.org/resources/studies/changes-study-adults-an-investigation-into-behaviour-and-physiology-in-syngap1/ PNO https://curesyngap1.org/resources/studies/pregnenolone-treatment-trial-for-individuals-with-autism/ Science: Chow Press - https://curesyngap1.org/blog/dr-clement-chow-at-the-university-of-utah-receives-support-from-syngap-research-fund-srf-to-accelerate-therapeutic-development-for-syngap1-related-disorders-pr30/ Sohal Webinar - https://curesyngap1.org/resources/webinars/94-targeting-gamma-oscillations-to-improve-cognition/ or https://fb.watch/vBYXj4FY7A/ Conference - Conference is 1 month away! Lineup: Science Day lineup - https://x.com/curesyngap1/status/1851723428677456093 Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267 Friday Join us for dinner! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-caregiver-dinner RESEARCH UPDATE There are 304 papers on or related to SYNGAP1 since 1998, but 46 of those are in 2024! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded Latest is from Canada, where they look at the impact of SYNGAP1 on auditory cortex function, social behavior and ability to extinguish fear memories. https://www.jneurosci.org/content/early/2024/10/08/JNEUROSCI.0946-24.2024.long FUNDRAISING - Coast2Coast Challenge $92,754 Syngap.Fund/C2C - Missense Account of the Fund $25,940 https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund - Charmander $10,585 https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander - Emmy $8,347 https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research Minted Cards - 20% discount, 15% to SRF, code FUNDRAISESYNGAP - https://Syngap.Fund/Minted Lovely blog on Scramble: https://curesyngap1.org/blog/swinging-for-a-cause-the-3rd-annual-scramble-for-syngap1/ ZOOM BACKGROUND https://drive.google.com/file/d/13jhPIBo-o1sHchEJz6KttocT1_h7GKZE/view?usp=sharing VOLUNTEER https://curesyngap1.org/volunteer-with-srf/ FUNDRAISE https://syngap.fund/FR CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/ SOCIAL MATTERS - 1,200 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,818 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,889 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ - 442 TikTok https://www.tiktok.com/@curesyngap1 NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 153 of #Syngap10 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

November 2, 2024

The Coast 2 Coast Challenge benefiting the SYNGAP1 #ProMMiS for Clinical Excellence is critical. #S10e152

Tuesday, October 22, 2024 First Principles Genetic disease means that gene broken since conception. Novel medicines are possible ways to fix the gene - Genetic Therapies (ASO &/or AAV), this is recent, before now, kids with these diseases were a “go home and love them” situation. These are delivered via spinal tap or directly to the brain in leading medical centers. First though, regulators must approve. Our job Develop medicines or get industry to - This is happening see Pipeline Get regulators to approve trials Get medical centers up to speed on SYNGAP1-Related Disorders (SRD) What we are building on CHOP ENDD funded externally (see #S10e92) and replicating what was built for STXBP1, check last week’s webinar https://curesyngap1.org/resources/webinars/93-endd-chop-2024-syngap1/ Rare-X platform for PRO collection Regulatory pathway being made clearer every day by Stoke (Dravet), Praxis (SCN2A), Ionis (many) all of whom are working on SYNGAP1 as well. What we are asking for We need to raise at least $500k (3rd site), preferably $1.13M (ProMMiS) Make your largest gift ever to SRF Fundraise with friends and family ACES is now ProMMiS, who knew ACE meant Adverse Childhood Event, not us. Key slides: S1 Path to Treatment | 2024 (09.27.24) 1. Why Now? Why is it time to go from bench to bedside (research to clinical)? At least 10 companies on our pipeline not to mention multiple small molecule efforts We have limited resources – so the focus has to transition, clinical funding first. CHOP Gift is 1 year down… 2. Why NHS?Understand SYNGAP1 better, go beyond Vlaskamp 2019 and Wiltrout 2024, see #S10e105 FYI at CHOP, as I shared in #S10e151, at year 1, we are at – 86 (Visits) + 10 (new scheduled) + 19 (2nd) + 4 (3rd) + 22 (follow up) Learn what to measure in clinical trials for SRD, remember our seizures are challenging Ideally we develop a Synthetic Control Arm if we use GCP Why top shelf? We need institutions the FDA will take seriously and our children are very complex requiring experienced clinicians. 3. Why Multidisciplinary. Neuro, Psych, Genetics, PT, ST, OT, GI, Sleep, ENT, Ortho. Beyond the sheer burden of getting our kids out and about for multiple appointments the coordination by a parent is almost impossible. 4. Why Multisite/3 sites?Replicable/scalable required by regulators Accessibility (not primary reason) Establish more locations where trials will be managed Laying a foundation for a national self-sustaining network 3 is the minimum, look at STARR or Angelman, both had/ve 4. 5. How and why so fast? Because we can. Time is Brain. Following a well trodden path SMA, Rett, Angelman, Dravet, but we are moving FASTER. 6. Does the industry really care? We are next there are so so many behind us, eager to take the resources we have access to today. Market size (Per our Census 425 US/1500 global is tip of iceberg) Multiple players reassuring each other Relatively strong amount of scientific and clinical research Haploinsufficiency (like Dravet – STOKE) – so relatively easy 7. Expensive? No. Clinical Research is more expensive than basic scientific research. Leveraging CHOP and Rare-X, setting up required networks to prepare for clinical trials. It’s time. 8. Why Bother/Help? Now is the time for SYNGAP1, we miss it at our peril. Sure, once in these places we will still see our patients, but the study, the support and the focus may pass. Our kids don’t die, regardless of patient age, what we are doing can change their future and that of their loved ones and caregivers. If not us, then who? It is a rare exception when a non-family member gives a gift, and it is always because a family member asked. We must ask. 9. What can I do? Donate to, share, join our Coast2Coast Clinics Challenge – two SYNGAP1 Squads in West and East – it’s critical $500k goal by end of 2024; more than $1M needed just for the SYNGAP1ProMMiS. So far, donations from $25 to $25,000 – each and every contribution matters. This requ

October 22, 2024

Nancy Leib Kessler is exceptional: Fundraising, Sibling, Advocating. Do Frazier and come to #SRFConf, #S10e151

📝Full show notes: https://curesyngap1.org/podcasts/syngap10/ Census is at 1,497! Syngap.Fund/Census Fundraising Season! Gala is tonight in NJ! Syngap.Fund/CLG4 #NLKrox - UFD Tech, $52,094 - Scramble, $28,000 Current Efforts: - Coast2Coast Challenge $42,691 Syngap.Fund/C2C - Missense Account of the Fund $23,684 https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund - Charmander $10,585 https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander - Emmy $8,173 https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research ONLINE SHOPPINGS EBay - We have an eBay shop sell for SRF! https://charity.ebay.com/charity/i/SynGAP-Research-Fund--Inc-/171038 Amazon - https://curesyngap1.org/blog/srf-amazon-storefront-to-cure-syngap1/ FRAZIER STUDY - Half enrolled! https://Syngap.Fund/Eye2 [email protected] CHOP is 1! - 86 (Visits) + 10 (new scheduled) + 19 (2nd) + 4 (3rd) + 22 (follow up) = DATA - https://x.com/cureSYNGAP1/status/1843684785740255303 School and Behaviour Go Elle! https://www.govtech.com/education/k-12/special-education-desperate-for-support-amid-severe-behaviors Do you have an advocate and a lawyer? I just got an email from an advocate. We need to do a webinar with Jackie, Nancy, Elle and others. #NLKrox On the site Syngap.Fund/Bones & lit review Syngap.Fund/AEDeffect Syngap.Fund/Sibling with the inaugural issue from Nancy #NLKrox Syngap.Fund/InsWin Insurance with Sara Driscoll Vicky & Merlina are unstoppable SHER Board: https://www.linkedin.com/posts/sherusaoficial_excited-to-introduce-the-board-of-directors-activity-7250152735403040768-Q18W Colombia Meeting: https://www.linkedin.com/posts/victoria-arteaga-26913433_raredisease-patientsfirst-collaboration-activity-7246975509358612480-InHP Cafe SYNGAP1 is up to 20! Syngap.Fund/Cafe Conference - Conference is 47 days away Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Register now - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf Book a room - https://bookings.omnihotels.com/event/los-angeles-california-plaza/2024%20SRF-SLC6A1-Connect-and-Cure-GABA-A Industry News - Lundbeck is back into the rare epilepsy space through the acquisition of Longboard for the drug bexicaserin https://www.linkedin.com/posts/anamingorance_lundbeck-signs-25b-check-for-longboard-activity-7251598931069960192-ytkb MNDU3 re https://pubmed.ncbi.nlm.nih.gov/38967915/ https://www.biospace.com/drug-development/7-children-receiving-bluebirds-gene-therapy-developed-blood-cancers-study RESEARCH UPDATE There are 303 papers on or related to SYNGAP1 since 1998, but 45 of those are in 2024! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded So much to note, Bateup and Silverman with mice, Vanderhaeghen on SRGAP-2, CHOP on EEG… https://www.cell.com/neuron/fulltext/S0896-6273(24)00645-7 VOLUNTEER https://curesyngap1.org/volunteer-with-srf/ FUNDRAISE https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ now including a webinar from the greats! CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/ SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,200 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,818 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,889 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ - 442 TikTok https://www.tiktok.com/@curesyngap1 NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources Podcasts, give all of these a five star review! SRF Apple Podcast Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 151 of #Syngap10 - Friday, October 18th, 2024 #

October 18, 2024

UFDTech, Eye-tracking, Praxis #DEEpDive, Stoke, Lacoste, Devinsky, #SRFConf, #S10e150

UFDTech, Eye-tracking, Praxis #DEEpDive, Stoke, Lacoste, Devinsky, #SRFConf, #S10e150 📝Full show notes: https://curesyngap1.org/podcasts/syngap10/ FRAZIER STUDY https://Syngap.Fund/Eye2 [email protected] Praxis DEEp Dive https://x.com/JMGraglia/status/1838548992285896914 SRF Deck https://docs.google.com/presentation/d/1ePB5Ou6bGZ2NWWHIEwkO2dGSRYifyZEJy4KZF2fanq4/edit?usp=sharing We Need A Cure Yesterday blog https://curesyngap1.org/blog/we-need-a-cure-for-syngap1-yesterday/ Chronic Grief Al Freedman https://www.linkedin.com/posts/graglia_activity-7240740334329102336-hidL/ Short: https://www.youtube.com/watch?v=Y_5UlBQVe2w Conference - Conference is 72 days away Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Register now - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf Book a room - https://bookings.omnihotels.com/event/los-angeles-california-plaza/2024%20SRF-SLC6A1-Connect-and-Cure-GABA-A Sponsor alongside Jones, Wieczrek and Graglia. PR out this week Lacoste (https://Syngap.Fund/PR28)https://curesyngap1.org/blog/dr-baptiste-lacoste-receives-syngap-research-fund-grant-for-research-on-vascular-and-metabolic-dysfunction-in-syngap1-related-disorders-pr28/ Devinsky (https://Syngap.Fund/PR29)https://curesyngap1.org/blog/six-patient-advocacy-groups-collaborate-to-co-fund-a-single-center-observational-study-of-seizure-types-in-rare-genetic-epilepsies-pr29/ UFD Tech Cure Stream - 6 days + 21 hours of live-streaming from Pittsburgh! September 23 3:00 Eastern to Sept 30 noon. https://www.justgiving.com/page/ufd-2024 https://www.youtube.com/watch?v=DtOyV2FNJ-s PRESS ABOUT FOF (Friends of the Fund) Stoke: https://www.businesswire.com/news/home/20240910810707/en/Stoke-Therapeutics-Presents-Zorevunersen-Data-Showing-Substantial-Reductions-in-Seizures-and-Improvements-in-Multiple-Measures-of-Cognition-and-Behavior-That-Support-the-Potential-for-Disease-Modification-in-Dravet-Syndrome RESEARCH UPDATE There are 297 papers on or related to SYNGAP1 since 1998, but 37 of those are in 2024! Now tied for 2nd place with 2009, but this year will be over 43, I’m certain. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded Three papers to note: Missense Server Case Study: https://academic.oup.com/bib/article/25/6/bbae458/7765456?login=false Rat GAP Paper: https://www.cell.com/cell-reports/fulltext/S2211-1247(24)01084-2 VOLUNTEER https://curesyngap1.org/volunteer-with-srf/ FUNDRAISE https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ now including a webinar from the greats! CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/ Scramble for Syngap - 11 days! - October 5, Greer, South Carolina over $20k https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/ TV! https://www.wspa.com/your-carolina/scramble-for-syngap/ SynGAP Research Fund Gala - 24 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/ Missense Account of the Fund $23,684 https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund Emmy $8,173 https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research Charmander $5,303 https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander YOU? https://curesyngap1.org/blog/fundraising-the-backbone-of-research/ CB Blood Donation accelerates Science! These samples are being used today! PWS/USP7 conference (Atlanta, GA, September 26-27, 2024) COMBINEDBrain conference (Kansas City, MO, September 29th, 2024) SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024) https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024 SOCIAL MATTERS - AMPLIFY SR

September 24, 2024

Join Frazier Study, Combined Federal Campaign (33321), Unravel Study, new papers & Chronic Grief #S10e149

📝Full show notes: https://syngap.fund/n149 FRAZIER STUDY https://Syngap.Fund/Eye2 [email protected] SRD JOINS CFC #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/ PRESS ABOUT FOF (Friends of the Fund) Praxis https://firstwordpharma.com/story/5891543 Unravel https://curesyngap1.org/blog/unravel-biosciences-and-syngap-research-fund-clinical-research-to-accelerate-new-and-repurposed-therapies-for-syngap1-related-disorders-pr27/ RESEARCH UPDATE There are 295 papers on or related to SYNGAP1 since 1998, but 35 of those are in 2024! Now in 3rd place, but this year will be over 43, I’m certain. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded Three papers to note: Humanized Mouse from Penn: https://pubmed.ncbi.nlm.nih.gov/39229131/ Behavioral Phenotype from Hopkins: https://pubmed.ncbi.nlm.nih.gov/38783394/ Catatonia: https://pubmed.ncbi.nlm.nih.gov/39235394/ also on https://www.medrxiv.org/content/10.1101/2024.09.05.24312724v1 for meds for Profound Autism. Recent talk: https://www.youtube.com/watch?v=JiOSKanKRfE CHRONIC GRIEF We have to talk about this. We all need support. Pretending this isn’t happening is a disservice to ourselves, our kids and our families. VOLUNTEER https://curesyngap1.org/volunteer-with-srf/ FUNDRAISE https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ now including a webinar from the greats! Smarts for Syngap - DC Trivia Night - Congratulations Scramble for Syngap - 26 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/ TV! https://www.wspa.com/your-carolina/scramble-for-syngap/ SynGAP Research Fund Gala - 39 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/ Missense Account of the Fund $23,684 https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund Emmy $8,147 https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research Charmander $5,150 https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander YOU? https://curesyngap1.org/blog/fundraising-the-backbone-of-research/ CALENDAR MANAGEMENT Conference is 87 days away, WE HAVE A ROOMBLOCK & Registration is live! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf Conference Registration - 89 for Science Day & 88 for Family Day (incl 19 patients) CB Blood Donation accelerates Science! These samples are being used today! PWS/USP7 conference (Atlanta, GA, September 26-27, 2024) COMBINEDBrain conference (Kansas City, MO, September 29th, 2024) SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024) https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024 SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,090 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,765 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,600 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 429 TikTok https://www.tiktok.com/@curesyngap1 NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 149 of #Syngap10 - Monday, September 9th, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

September 10, 2024

Back2School, Unravel Bio, Support Gala & Scramble, Prez Search, Fondo & more great news #S10e148

📝Full show notes: https://syngap.fund/n148 BACK TO SCHOOL 2024 Push the schools to do better, at every turn. Different than 2023: https://curesyngap1.org/podcasts/syngap1-stories/syngap1-stories-episode-016-mike-graglia STUDY https://Syngap.Fund/UB (Unravel Biosciences)3 forms to fill out, please let us know if you want to participate. PRESIDENT & COO SEARCH https://curesyngap1.org/blog/srf-is-hiring-position-of-president-chief-operating-officer-coo/ RESEARCH UPDATE There are 293 papers on or related to SYNGAP1 since 1998, but 33 of those are in 2024! Tied for 3rd place, but this year will be over 43, I’m certain. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded Latest: GOS UK team calls for more OT and ST vs other patients with DD/ID https://pubmed.ncbi.nlm.nih.gov/39148034/ PRESS ABOUT FOF (Friends of the Fund) Fondo joins FECOR - https://www.instagram.com/p/C-8dJG7vEDd/?igsh=ZmYxYjQzMm43aHlp&img_index=1 JW - https://www.latimes.com/socal/daily-pilot/news/story/2024-08-02/newport-beach-family-seeks-to-ensure-rare-disease-funding-continues TJB - X https://x.com/JMGraglia/status/1825949467973136804L https://www.linkedin.com/posts/graglia_how-a-midwife-became-a-neuroscientist-to-activity-7231714648767479808-k13w?utm_source=share&utm_medium=member_desktopF https://www.facebook.com/mike.graglia/posts/pfbid02UjRLWVQRzrD6j3YngnJx1R49cUBb188zKsxauvanSaZnAh7pW6UQntQB7QKFKqSwl VOLUNTEER NEEDS Thank you Grants, Aaron & Sarah Fundraising and FinanceVolunteer! https://curesyngap1.org/volunteer-with-srf/ https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ Smarts for Syngap - DC Trivia Night - 14 Days - September 4, 2024 Scramble for Syngap - 45 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/ SynGAP Research Fund Gala - 59 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/ Missense Account of the Fund $21,684 https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund Emmy $6,549 https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research YOU? https://curesyngap1.org/blog/fundraising-the-backbone-of-research/ CALENDAR MANAGEMENT Conference is 106 days away, WE HAVE A ROOMBLOCK & Registration is live! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf Conference Registration - 57 for Science Day & 66 for Family Day CB Blood Donation accelerates Science! These samples are being used today! PWS/USP7 conference (Atlanta, GA, September 26-27, 2024) COMBINEDBrain conference (Kansas City, MO, September 29th, 2024) SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024) https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024 SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,070 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,744 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,375 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 420 TikTok https://www.tiktok.com/@curesyngap1 NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 148 of #Syngap10 - Wednesday, August 21th, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

August 22, 2024

#SRFadvocates, #ColinFarrellFoundation, Adult Advocacy & the Best Science Team Ever #S10e147

📝Full show notes: https://syngap.fund/n147 FDA Talk this week! Thank you Beacon! https://syngap.fund/fda24 SRF ADVOCACY - Don’t miss the chance to beef up your advocate muscles, after we get through FDA, the fun has just begun. JK & JJ are amazing. https://curesyngap1.org/team/leadership-team/jackie-kancir/ ADULT ADVOCACY SRF & UBC: https://curesyngap1.org/adults-with-syngap1-caregiver-resources/ also /Adult Interview: https://www.youtube.com/watch?v=JDiD8Z3lWQkFoundation: https://colinfarrellfoundation.org/ WaPo Article: https://www.washingtonpost.com/health/2024/08/08/what-is-angelman-syndrome-colin-farrell-son/ LEVERAGE PARTNERS https://globalgenes.org/blog/global-genes-sweet-16th-birthday-success-stories/ Go to GG Rare Advocacy Summit Sept 26 & 27. https://globalgenes.org/week-in-rare/ SCIENCE TEAM PROJECT ACES - Accelerating Clinical Excellence for SRD - CHCO & Data PROJECT SBOM - SYNGAP1 Biomarker & Outcome Measures - Analysis PROJECT SMART - SYNGAP1 Missense Analysis Research & Therapeutics - In flight PROJECT PURPOSE - Repurposing - Ravicti, NAL, Nortriptyline - Unravel PROJECT FACILITATE - Tools and Reagents - Mice work in flight RESEARCH UPDATE There are 292 papers on or related to SYNGAP1 since 1998, but 32 of those are in 2024! We are more than on track to set a record this year with the biggest annual output being in 2023 with 43 papers. I’ve seen multiple papers being submitted lately, it’a actually hard to keep up. LINK LATEST PAPER: https://www.eurekalert.org/news-releases/1053579 WEBINAR: https://curesyngap1.org/resources/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development/ FUNDRAISERS! Go Australia! https://www.theland.com.au/story/8704556/support-syngap1-research-win-a-toyota-hilux-sr5/ 3 state advocates on website & 17 ambassadors with more coming - still need volunteers for many states! Contact Jackie (Adv) or Corey (Amb) Smarts for Syngap - DC Trivia Night - 24 Days! Scramble for Syngap - 55 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/ SynGAP Research Fund Gala - 68 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/ Missense Account of the Fund $21,684 https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund Emmy $6,449 https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research YOU? https://curesyngap1.org/blog/fundraising-the-backbone-of-research/ CALENDAR MANAGEMENT Conference is 116 days away, WE HAVE A ROOMBLOCK & Registration is live! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf Conference Registration - 44 for Science Day (36 caregivers) & 52 for Family Day (36 caregivers, 13 kids/sibs) CB Blood Donation accelerates Science! These samples are being used today! PWS/USP7 conference (Atlanta, GA, September 26-27, 2024) COMBINEDBrain conference (Kansas City, MO, September 29th, 2024) SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024) https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024 SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,070 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,713 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,168 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 418 TikTok https://www.tiktok.com/@curesyngap1 NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Cafe Syngap1 #17 https://podcasts.

August 12, 2024

Zempleni, #SYNGAPconf, #ProjectACE, #ACENHS, Newsletter, #S10e146

📝Full show notes: https://syngap.fund/n146 Off to Adam’s Camp: https://www.youtube.com/watch?v=WBBEZPLRaBQ #S10e110 Newsletter #39 - syngap.fund/NL39 https://mailchi.mp/curesyngap1.org/thefutureisnow-17390566 Cafe Syngap16 https://curesyngap1.org/podcasts/cafe-syngap1/norma-herrara/ Zempleni Grant https://curesyngap1.org/blog/syngap-research-fund-srf-continues-support-for-exosome-research-for-syngap1-related-disorders-srd-in-the-lab-of-professor-janos-zempleni-of-the-university-of-nebraska-lincoln-pr25/ Accelerating Clinical Excellence - PROJECT ACE - Multisite Multidisciplinary Prospective Natural History Study (MsMdProNHS) - CHOC Webinar: https://curesyngap1.org/resources/webinars/91-syngap1-natural-history-study-at-childrens-hospital-colorado/ Will not collect for biobank! Top 5 from Abbott webinar: Colorado seeing less patients than CHOP, but could see more if the interest raises. Wherever you are, get to a site. The more data you have, the more industry interest. This is a partnership between CHOP & CHCO. Data will be shared across all sites. Very good for SYNGAP1 research. Model successful with other rares, ie CDKL5 and STXBP1. Visit info: CHCO visits are split over 2 days. Visits will include behavioral support with neuropsych. Multidiciplinary clinic space itself is really nice and well-planned. SRF board approved travel reimbursement. Dinner on Saturday, talk to Lauren To sign up for the Colorado clinic please contact SRF Ops Manager, Lauren Perry, [email protected]. FUNDRAISERS! Scramble for Syngap - 70 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/ SynGAP Research Fund Gala - 83 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/ Missense Account of the Fund $21,534 https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund Emmy $5,799 https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research YOU? https://curesyngap1.org/blog/fundraising-the-backbone-of-research/ CALENDAR MANAGEMENT Conference is 131 days away, WE HAVE A ROOMBLOCK & Registration is live! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf CB Blood Donation accelerates Science! These samples are being used today! Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024) HNRNPH2 conference (Seattle, WA, July 29-30, 2024) PWS/USP7 conference (Atlanta, GA, September 26-27, 2024) COMBINEDBrain conference (Kansas City, MO, September 29th, 2024) SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024) https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024 Hi Zoe! Do you have LGS? Harmony Biosciences bought Epigenyx https://www.prnewswire.com/news-releases/harmony-biosciences-acquires-epygenix-therapeutics-inc-adding-late-stage-epilepsy-franchise-to-growing-pipeline-of-innovative-cns-assets-302131000.html This write is a bit incomplete as it just says 5-HT2, which is a just receptor family: 5-HT2A 5-HT2B - this the receptor linked to cardiac. Fenfluramine, a nonselective serotonin-releasing agent, its adverse effects were linked to activating this receptor 5-HT2C - bexicasarin selectively activates this. SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,060 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,703 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,016 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 417 TikTok https://www.tiktok.com/@curesyngap1 Here is a way to use it #SyngapSeizure NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources Podcasts, give all of these a five star r

July 27, 2024

A tale of three grants… Coba Grant, Quadrato Grant & Anderson Paper! #S10e145

📝Full show notes: https://syngap.fund/n145 2020 COBA GRANT https://keck.usc.edu/news/ksom-researcher-awarded-130000-from-syngap-research-fund-to-study-rare-genetic-disease/ SYNGAP.FUND/IPSC > https://curesyngap1.org/ips-cell-models/ 2022 QUADRATO GRANT & 2022/3 PAPER MAY 22 PRE-PRINT: https://www.biorxiv.org/content/10.1101/2022.05.10.491244v1.full SRF PR: https://www.eurekalert.org/news-releases/1050685 2022 ANDERSON GRANT & 2024 PAPER Webinar: https://curesyngap1.org/resources/webinars/evaluation-of-a-stem-cell-gene-therapy-approach-for-syngap1/ Announcement: https://www.linkedin.com/posts/curesyngap1_syngap1-srfresearch-stemcelltherapy-activity-7215557722614743041-rxOV Angelman: https://pubmed.ncbi.nlm.nih.gov/33856035/ Transformatx Biotheraputics LLC: https://cureangelman.org/fast-announces-formation-of-lentiviral-gene-therapy-company MNDU3: https://www.fiercepharma.com/pharma/fda-wants-classwide-boxed-warning-all-commercial-car-t-therapies-amid-secondary-cancer TAKEAWAY: Focus on the clinic, and let the best therapy win. CLINICAL NETWORK / NHS UPDATE COLORADO webinar postponed, still register, we will notify you via email of the new date. https://syngap.fund/Abbott To sign up for the Colorado clinic please contact SRF Ops Manager, Lauren Perry, [email protected]. CALIFORNIA SYNAPTOPATHY CLINIC (CSC) starting to see patients, if you are in CA call them. https://curesyngap1.org/blog/srf-announces-stanford-launches-california-synaptopathy-clinic/ FUNDRAISING Missense Account of the Fund $10k+ https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund Emmy $5k+ https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research YOU? https://curesyngap1.org/blog/fundraising-the-backbone-of-research/ CALENDAR MANAGEMENT Rare Across America is 24 days away, registration ends in 10 days! https://everylifefoundation.org/rare-advocates/rare-across-america/ Conference is 146 days away & Registration is live! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf CB Blood Donation accelerates Science! STXBP1 conference (Philadelphia, PA, July 19-21, 2024) Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024) HNRNPH2 conference (Seattle, WA, July 29-30, 2024) PWS/USP7 conference (Atlanta, GA, September 26-27, 2024) COMBINEDBrain conference (Kansas City, MO, September 29th, 2024) SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024) NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,050 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,685 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 10,724 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 415 TikTok https://www.tiktok.com/@curesyngap1 Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 145 of #Syngap10 - July 11, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

July 12, 2024

1,454! Including Hope. Keto, Heat, Sleep Study, Colorado, California, CIRM & Longboard! #S10e144

📝Full show notes: https://syngap.fund/n144 CENSUS = 1,454 https://curesyngap1.org/how-many-people-have-syngap1-census/ STX version! https://www.stxbp1disorders.org/news/stxbp1-census-q1-2024 FUNDRAISING Missense Account of the Fund https://www.linkedin.com/posts/curesyngap1_syngap1-srd-autism-activity-7213973153071472640-uSYEExplainer - https://www.youtube.com/watch?v=C9bGOA2MFHc Pipeline - https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/ Emmy https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research YOU? https://curesyngap1.org/blog/fundraising-the-backbone-of-research/ PHARMA https://www.longboardpharma.com/ http://longboardpharma.gcs-web.com/news-releases/news-release-details/longboard-pharmaceuticals-receives-breakthrough-therapy CIRM Petition - https://www.linkedin.com/feed/update/urn:li:activity:7210079591275626497 Post - https://www.linkedin.com/posts/nashafitter_rareasone-activity-7212446744511414272-B8qx Talk - https://david293.substack.com/p/text-of-comments-by-mike-graglia HOPE - Caring for your SYNGAPian Rainy’s drive - https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/ My visit - https://www.facebook.com/permalink.php?story_fbid=pfbid0SFg2Mx8jxkS8oeStYn5yqEhYgWVAhhQeX8WiSGQqhPcxpTgtyG1TtbaPMBMTAmVGl&id=100088305909698 Keto is powerful, and tricky https://curesyngap1.org/resources/webinars/keto-mad-syngap-parents-experience-syngap1/ Heat is not good - We need a blog here… Adenoids and tonsils are an issue - https://curesyngap1.org/blog/syngap-sleep-you-could-be-one-more-test-away-from-helping-your-syngapian-thrive/ CLINICAL NETWORK / NHS UPDATE COLORADO webinar next week! https://syngap.fund/Abbott July 11, 2024 at 9 Pacific. CALIFORNIA SYNAPTOPATHY CLINIC (CSC) starting to see patients, if you are in CA call them. https://curesyngap1.org/blog/srf-announces-stanford-launches-california-synaptopathy-clinic/ CALENDAR MANAGEMENT Rare Across America is 34 days away, registration ends in 10 days! https://everylifefoundation.org/rare-advocates/rare-across-america/ Conference is 156 days away & Registration is live! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf SHOUTOUTS JACKIE NEW ED OF NCSA https://www.ncsautism.org/blog/ed Jess, Zoe, Lauren, Ed, Suzanne, Heather, Corey… CB Blood Donation accelerates Science! STXBP1 conference (Philadelphia, PA, July 19-21, 2024) Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024) HNRNPH2 conference (Seattle, WA, July 29-30, 2024) PWS/USP7 conference (Atlanta, GA, September 26-27, 2024) COMBINEDBrain conference (Kansas City, MO, September 29th, 2024) SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024) NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,040 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,660 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 10,659 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 415 TikTok https://www.tiktok.com/@curesyngap1 Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 144 of #Syngap10 - July 2, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

July 3, 2024

Conference Reg is open! So many leaders in SRF improving the future. #S10e143

📝Full show notes: https://syngap.fund/n143 BIO WAS GREAThttps://www.linkedin.com/posts/nashafitter_bio2024-activity-7204906035000582145-Meyp GRANTS APPROVED Multiple grants and agreements approved, wait for press releases. Thank you Aaron & Sarah, Lauren!FUNDRAISING - Great work to MDBR - Almost $45k, that will be added to $30k! https://charity.pledgeit.org/t/jY577u7uMc Awesome Peter, Heather, Aaron, Justin Albrect & Kali Worth. Also Dr Jillian McKee! - Blane & Ashley Dallen in Canada raised almost $15k via a tournament. NHS UPDATE Colorado should start seeing patients in August! Don’t cancel CHOP appointments, some people have no choice. CHATS WITH INDUSTRY Prevalence: They are easily missed. The math is clear. Lots of data. 1% of ID = 35k+ 1/100k at 3.6m in 2023 = 36 a year, minimum with PTV. 5/100k = 180. A YEAR. Caren is 65. 36 x 65 = 2,340 PTVs vs 400 SRF knows about) https://curesyngap1.org/blog/why-are-we-so-sure-that-syngap1-related-intellectual-disability-is-under-diagnosed/ CALENDAR MANAGEMENT Rare Across America is 28 days away, register now: https://everylifefoundation.org/rare-advocates/rare-across-america/ Conference is 170 days away & Registration is live! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf CB Blood Donation accelerates Science! STXBP1 conference (Philadelphia, PA, July 19-21, 2024) Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024) HNRNPH2 conference (Seattle, WA, July 29-30, 2024) PWS/USP7 conference (Atlanta, GA, September 26-27, 2024) COMBINEDBrain conference (Kansas City, MO, September 29th, 2024) SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024) SHOUTOUTS - Zoe https://curesyngap1.org/blog/parents-take-action-after-syngap1-related-disorder-diagnosis/ - We need a Pavel award. NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,030 YouTube. https://www.youtube.com/@CureSYNGAP1 - 10,421 Twitter https://twitter.com/cureSYNGAP1 - 3,652 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 49k Insta https://www.instagram.com/curesyngap1/ - 397 TikTok https://www.tiktok.com/@curesyngap1 Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 143 of #Syngap10 - June 18, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

June 19, 2024

NHS in Colorado! Real talk about new therapies. Planning for RAA & the Conf! #S10e142

Full show notes: https://syngap.fund/n142 BIG NHS UPDATE 66 Kids evaluated, 11 have had follow-ups, ~20 new kids scheduled. Colorado should start seeing patients in August! WHERE TO DONATE MONEY: MDBR is next week, donate now! https://charity.pledgeit.org/t/jY577u7uMc Thanks to the team. https://Syngap.Fund/Unite BLOOD: June 7 & 8, Loews Coronado Bay Resort, email [email protected] TIME TO JOIN #TEAMSRF - Volunteer Webinar: https://syngap.fund/LT - Fifty families lent their good names to SRF in this wonderful blog: https://syngap.fund/Community - https://curesyngap1.org/volunteer-with-srf/ CHATS WITH INDUSTRY - Is IT delivery a blocker for precision therapies, NO! - 2026 is feeling like the earliest we see trials. - BIO with Kathryn next week! CALENDAR MANAGEMENT Rare Across America is 66 days away, register now: https://everylifefoundation.org/rare-advocates/rare-across-america/ Conference is 188 days away: https://curesyngap1.org/events/conferences/syngap1-conference-2024/ PUBLICATION ALERT https://x.com/cureSYNGAP1/status/1795837761678962799 NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,020 YouTube. https://www.youtube.com/@CureSYNGAP1 - 10,000 Twitter https://twitter.com/cureSYNGAP1 - 3,591 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 49k Insta https://www.instagram.com/curesyngap1/ - 392 TikTok https://www.tiktok.com/@curesyngap1 Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 142 of #Syngap10 - May 31, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

May 31, 2024

SRF LT Webinar, MDBR, Therapies, Learning at Conferences. #S10e141

JOIN SRF LT on Thursday: Volunteer Info session with Leadership Team is this week: https://syngap.fund/LT Thursday 5/23 at 5:30 Pacific. MDBR is 3 weeks away! https://Syngap.Fund/Unite $5k match https://x.com/phalliburton/status/1792288377049415835 It’s all about therapies. Precision Genetic and Repurposed. Conferences are where we engage professional communities around SYNGAP1 & SRF. - Last week I was at Milken Global. All diseases are talking about biomarkers & endpoints. https://milkeninstitute.org/events/global-conference-2024/program - This week I was at the #Ultragenyx Bootcamp with our CSO https://www.ultragenyx.com/video-this-bootcamp-helps-parents-advance-rare-disease-research/ So good to see Kathryn energized by this role. - ASGCT was last week and that means announcements… - Kathryn and I are off to BIO in June in San Diego. Ionis for Angelman https://www.linkedin.com/posts/cureangelman_exciting-news-for-the-angelman-syndrome-community-activity-7196872264976322563-_rvX Capsida for STX https://www.linkedin.com/posts/graglia_capsida-biotherapeutics-presents-new-preclinical-activity-7194004214635716608-M01Y Encoded for STX https://www.linkedin.com/posts/stxbp1-foundation_encoded-therapeutics-provides-pipeline-updates-activity-7196942568859787265-leKO Nasha at FOXG1 https://www.youtube.com/watch?v=ELKijSx0uwQ Repurposed therapies are just as important. Cost effective. Globally available. They are here now. We must act, the suffering is immense. They show us what is improvable and therefore inform clinical trial design. They are not compromising other trials. And to even suggest that is unethical if it suggests people should hold off on helping patients. How about we just diagnose more kids? Or think harder about which kids go to which trials? Precision Genetic Therapies are going to be more effective than repurposed drugs, people will happily participate in trials. Review of repurposed drugs: RAVICTI Rx- 10+ patients with Dr. Grinspan, not all but a few have had significant seizure reduction. I remain worried about cost and look to STXBP1 and SLC6A1 for guidance here. NORTRIPTYLINE Rx - Has helped me, a handful of families are getting a Rx. I am hopeful that some researcher does an investigator led trial. But until then, ask your Neuro. ACETYL-LEUCINE is a Nutraceutical - Update 1 has really been noticed and Update 2 will share a few potential mechanisms of action. Many are trying this drug from https://bit.ly/tanganil24 Encouraging… no, updating. Please share data with us if you are trying. We are collecting case studies for Update 3. Thank you to the team here. NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,010 YouTube. https://www.youtube.com/@CureSYNGAP1 - 9,900 Twitter https://twitter.com/cureSYNGAP1 - 3,560 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 49k TikTok https://www.instagram.com/curesyngap1/ Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 141 of #Syngap10 - May 20, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

May 20, 2024

Who will fight for our kids when we aren’t there? SRF and your crew. #S10e140

Read Jackie’s article on profound autism, be grateful she is an SRF Leader. https://helenjournal.org/april-2024/achieving-equity Watch Brett’s 2 min talk on his son, he’s on your team too. https://x.com/UFDTech/status/1785111914168594894 Look at all these families that raise a quarter million dollars via #Sprint4Syngap 2024 syngap.fund/sprint24 - https://givebutter.com/ALjJXJ - $243k, 844 donors - Kaia’s event was wonderful https://curesyngap1.org/syngap-warriors/kaia/ - Reef’s family also found connection by helping SRF, video coming soon. Conferences are where we engage professional communities around SYNGAP1 & SRF. - Last week Vicky was at WODC. https://www.terrapinn.com/conference/world-orphan-drug-congress-usa/ - This week Heather Mestemaker was at the GG DDC. https://globalgenes.org/event/rare-disease-drug-development/ - Next week I’ll be at Milken Global, it takes a team. https://milkeninstitute.org/events/global-conference-2024/program It takes a village. We need to support efforts to help our kids and accept that the system will always fall short, the need for a strong SRF will only grow. The more we unify, the faster it grows. v1 Drugs - Data - Biomarkers & Endpoints v2 now we add Improve Clinical Care (NHS Expansion & Repurposing) - Build a sustainable organization. NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - 990 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,552 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 9,852 Twitter https://twitter.com/cureSYNGAP1 - 49k TikTok https://www.instagram.com/curesyngap1/ Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 140 of #Syngap10 - May 2, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

May 2, 2024

SRF is a “Get-to…” not a “Have-to..” Do something & Go big. #S10e139

SRF is a “Get-to…” not a “Have-to..” Do something & Go big. #S10e139 Talking with John Get vs Have (https://www.youtube.com/watch?v=J5oBo9zcRUE)SRF is the same:- Raise Funds to Change the Future- Volunteer, contribute to a larger effort- Connect with other families- Share our experience to make broader knowledge- Learn from each other and scientists Raise Funds#Sprint4SYNGAP 2024 syngap.fund/sprint24 - https://givebutter.com/ALjJXJ - Newsletter https://mailchi.mp/curesyngap1.org/sprint4syngap?e=8531ca92fd - $197k, 521 donors - See you Saturday, enjoy it. - It’s a get to, people get to support our incredible efforts. VolunteerACTION IS THE ANTIDOTE TO DESPAIR - Joan Baez - State Reps - May 3rd! - Advocates - Jackie Kancir and Jess Johnson are killing it. - Many other roles - DEI too. Connect with other Families - Jaxon Movie is up https://curesyngap1.org/resources/movies/ - Sprint events. Volunteer. Etc. - Hope drove across the country Fundraiser https://givebutter.com/zDUIfN Reel https://www.facebook.com/reel/421525020629131 Interview https://curesyngap1.org/podcasts/syngap1-stories/ #28 Share our experience to make broader knowledge - FB: www.facebook.com/groups/syngap/ - CHOP is at 99! [email protected] - Cinci is still recruiting too. Info - https://drive.google.com/file/d/1jLAIe6FTNRGlhPZpouDlYJNPv-d6ICNW/view?usp=drive_link; Survey - https://redcap.research.cchmc.org/surveys/?s=4CYCNJ47RCL7HLN8 Learn from each other & scientists - https://curesyngap1.org/podcasts/cafe-syngap1/ - Coming soon: Missense Server is Awesome, Frogs too. - NAL: https://curesyngap1.org/blog/drug-repurpose-update-1-tanganil-acetyl-leucine-for-potential-management-of-syngap1-related-disorder-symptoms/ - Remember new families have resources too! https://syngap.fund/Resources I’m learning too! Just accepted to #LeadersLink of #FasterCures! - Presshttps://milkeninstitute.org/article/leaderslink-cohort-2024-2025-fastercures - X https://x.com/JMGraglia/status/1782778094589460812 - LinkedIn https://www.linkedin.com/posts/graglia_please-join-us-in-welcoming-the-newest-leaderslink-activity-7188548477889449987-DmAX SOCIAL MATTERS - 979 Subscribers on YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,529 Subscribers on LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 9,846 Followers on Twitter https://twitter.com/cureSYNGAP1 Podcasts, give all of these a five star review!SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 139 of #Syngap10 - April 23, 2024#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

April 23, 2024

Grateful and grieving. SRF is growing with our community, all 1,400 of us! #S10e138

TOGETHER WE ARE STRONGER - 1,400 strong, thank you Jess & team. https://curesyngap1.org/blog/syngap1-census-2024-update-61-in-q1-2024-total-1400/ - Stoke webinar: one of the most important considerations for deciding which disease to work on was, “…how strong is the patient advocacy group?” - Stoke CMO Barry Ticho, MD, PhD, FACC during webinar 4/2/24 to discuss findings of STK-001 WELCOME AND CONNECT - New parents are coming fast, reach out to them, tell them how much hope to have. - Connect, connect, connect. - San Diego next week: https://curesyngap1.org/resources/movies/jaxon/ - Hope https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/ - TU to Emily Barnes who is at FasterCures meeting today in Boston, see #S10e98 to see my thoughts about this workshop https://www.youtube.com/watch?v=iOLjUdVUtqo TEAM IS GROWING BOARD - https://www.eurekalert.org/news-releases/1038978 CSO - https://www.eurekalert.org/news-releases/1040061 COO - You? PRESS - UK https://www.channel4.com/news/govt-send-funding-boost-still-billions-short-says-tory-mp-with-affected-family/ - GA https://www.gpb.org/news/2024/04/03/80-of-rare-diseases-are-genetic-thats-why-whole-genome-sequencing-can-help/ What does my genetic report mean? We wrote a blog, but as I’ve had this conversation a few dozen times, my answer is simpler now. Is it missense or is it truncating? If missense, do more research, if truncating, it is in the first 4 exons (p. Address of 129 or lower). Who else has it? Look on ClinVar and call SRF. Blog: https://curesyngap1.org/blog/understanding-your-genetic-report-with-syngap1-a-rare-disease/ STUDIES https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/ CHOP: [email protected] Adults: - Press Release: https://www.eurekalert.org/news-releases/1040062 - Study Info: https://drive.google.com/file/d/1tOdodcV7E5ROOHWyLn8a48x1WNBOr-U2/view QOL: https://Syngap.Fund/QOL24 39 and counting. #Sprint4Syngap 2024 Total: $168,572 from 347 people Tavilla: $126,385 from 62 Big thanks to them and all teams especially those already over $1k, Phoebe, Kaia, Louie, Kiera, Theo, Hadley & Gracyn. https://curesyngap1.org/events/featured/sprint4syngap-2024/ https://givebutter.com/ALjJXJ REPURPOSING - NAL, blog coming. - Ravicti, enrolled, and blog on Butyrate coming. - Nortriptyline, has been game changing, discussing a larger trial. REFLECTIONS - Family Medical Leave Act #FMLA https://www.dol.gov/general/topic/benefits-leave/fmla - Homeschooling… again, avoid the kneejerk. See #S10e64 https://www.youtube.com/watch?v=01uhSjxGgGE - Tony update. Grateful and grieving. SOCIAL MATTERS 967 Subscribers on YouTube. https://www.youtube.com/@CureSYNGAP1 3,483 Subscribers on LinkedIn. https://www.linkedin.com/company/18940628/admin/feed/posts/ Socials matters so we can find more people, like this: https://curesyngap1.org/blog/an-emotional-journey-begins-after-a-syngap1-diagnosis/ Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 138 of #Syngap10 - April 4, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

April 4, 2024

#S10e137

Genetic Therapy Companies (ignoring small molecules, see our pipeline here https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/) Stoke Therapeutics #StokedAboutStoke Presser: https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-landmark-new-data-support-potential I did call this in #S10e111 https://youtu.be/i6EZUrqsn2g?si=RN3SLR2vHCjgAiGt&t=706 This study started in #S10e83 https://www.youtube.com/watch?v=7uK2dCs53Ew Praxis Precision Medicines https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-11 Longboard Pharma https://ir.longboardpharma.com/news-releases/news-release-details/longboard-pharmaceuticals-reports-full-year-2023-financial Studies https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/ CHOP: [email protected] Adults: https://drive.google.com/file/d/1tOdodcV7E5ROOHWyLn8a48x1WNBOr-U2/view QOL: https://Syngap.Fund/QOL24 Fundraisers 247 supporters have us at $79k Team Tavilla is over half of that at $47k Big thanks to them and all teams especially those already over $1k, Phoebe, Kiera, Kaia & Gracyn. Rifton bike for S4S anyone at $500+. 247 Supporters!https://curesyngap1.org/events/featured/sprint4syngap-2024/ https://givebutter.com/ALjJXJ Social Matters 953 Subscribers on YouTube. https://www.youtube.com/@CureSYNGAP1 Socials matters so we can find more people, like this: https://curesyngap1.org/blog/an-emotional-journey-begins-after-a-syngap1-diagnosis/ Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 137 of #Syngap10 - March 26, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

March 26, 2024

SYNGAP1 Ciitizen Paper is out! UCB Survey. UCSF is discovering SYNGAP. #Sprint4SYNGAP 2024 is on! Fitter at the WH. #S10e136

Do this study for UCB: https://Syngap.Fund/QOL24 Two killer publications: Boston - https://www.linkedin.com/posts/graglia_syngap-research-fund-announces-308000-multidisciplinary-activity-7173732255369035776-HC-9 Penn/ENDD - https://www.sciencedirect.com/science/article/abs/pii/S153854422400021X Email Info at CureSYNGAP1 dot org for PDFs! Visit to UCSF - Exciting new proposal and wait for the Wilsey paper! Background: https://www.youtube.com/watch?v=pagFzSmYK8E Repurposing is moving apace! More as we have it. Ravicti. Butyrate. Nortriptyline. Acetylleucine. Sprint4Syngap is our current fundraiser, get in there and join us! https://curesyngap1.org/events/featured/sprint4syngap-2024/ https://givebutter.com/ALjJXJ Sprint4Syngap Total: $33,704. Tavilla Total: $6,695 Nasha Fitter at WH, is a masterclass in advocacy. https://www.linkedin.com/posts/nashafitter_this-rare-disease-day-i-was-invited-to-be-activity-7170089524402802688-50tE Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 136 of #Syngap10 - March 16, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

March 16, 2024

#RareOnTheHill and #SRFboard in DC were epic. It’s going to be a great, year, get some #RareBrewCoffee! #S10e135

DC was epic, come next year! - Board Meeting and Leadership Team. - Rare on the Hill - Nancy, John, Vicky, Kathryn, Marta, Suzanne, Jess Johnson! https://www.facebook.com/suzanne.v.jones/posts/pfbid02pMjKxryjDej62FM2RRA6afyU5JPkdB37dXzVrXMLFzjsWmRTQV2wtR3BNaaFcTK4l - Last week of Feb, don’t miss it. #RareBrewCoffee has launched! https://rarebrewcoffee.com/ use code SRF10 Reflecting on the latest Rick Huganir paper - This was in part supported (as acknowledged) by our first grant, 5 years ago we funded 10x that last year. - We are not a Rasopathy! https://x.com/cureSYNGAP1/status/1763644994685153654?s=20 - We need to have Prof. Huganir do a webinar! #DEI #SyngapWhileBlack Nice work Petersen family https://qcitymetro.com/2024/02/23/syngap-1-syndrome-autism-epilepsy-treatment/ State Coordinators and Advocates Sign up - We’re looking for state representatives and state advocates - fill out this form if you’re interested - https://docs.google.com/forms/d/e/1FAIpQLSfPWiyvAPuKif-h2bbMBqUKVLMeOeK-ISehbM9PvnReXMRjZg/viewform - Syngap1 Stories Episode 27 - guest host Jessica Johnson with guest Jackie Kancir - released 3/2. Syngap.Fund/Stories We still do warriors, 198 is from Poland! - https://x.com/cureSYNGAP1/status/1763006900939956252?s=20 - https://curesyngap1.org/syngap-warriors/igor/- Are you are warrior yet? https://curesyngap1.org/syngap-warriors/ Repurposing - Thought for the week - When you try a new molecule, any new molecule, take notes, videos and pictures. - IF a drug increases cognition, expect frustration, at first.- Make sure you watch episode 134, even if it’s long because I really go deep on repurposing. https://youtu.be/luhVxDEXlcU?si=BUmyKmTkOvFMVN5Z Notes, all on Youtube, make sure you subscribe there - 935 today let’s get to 1,000 https://www.youtube.com/@CureSYNGAP1 List of repurposed drugs: Ravicti® (glycerol phenylbutyrate) - https://www.youtube.com/watch?v=Rwwdifsu1g8 Butyrate - https://www.youtube.com/watch?v=hjl9Z5_uQws NAL - https://www.youtube.com/watch?v=TphYC3o2BJQ Pamelor® (nortriptyline) - https://www.youtube.com/watch?v=z0BdjDaWiMs Fycompa® (perampanel) - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10469904/ Siblings - Order a kit, thank you UCB @UCBUSA https://curesyngap1.org/sibling-support/ Ed’s notes: - Aaron Harding guest on DeafBlind Potter Podcast - "Navigating Life's Challenges: A Journey with SynGAP - An Interview with Aaron Harding" - https://youtu.be/cagNgqmolgk?si=s9vAX1_jl07e4kOY - Jansen Jones, daughter of BOD chair Suzanne, was one of two rare disease children featured in a Rare Disease Day article by Children’s Healthcare of Atlanta - https://drive.google.com/file/d/18lPSXcciyK3OHnSWDXxy1DDVZZvPc-sY/view - Newsletter issue 37 (2/25) includes these and more - https://curesyngap1.org/newsletter/ Scholarship - UCB USA Family Epilepsy Scholarship - Blog - https://Syngap.Fund/UCB24 - Diagnosed with Epilepsy or immediate family member or caregiver - Seeking higher education - Application deadline March 15 https://drive.google.com/file/d/1PtAJfqOUkeXhX2NsyxvkB9A-pEHei5pc/view Fundraising - Get Ready for Sprint - save the date 4/27/24 - sign up your teams now; Rifton is giving away another adaptive tricycle to a team who raises $500+ - Syngap.Fund/Sprint24 https://www.rifton.com/ (12 teams signed up as of 3/2 - we had 28 teams in 2023; already have $26,000+ in donations!!! Still a ways to go before we beat last year’s record.) - MDBR 6/8 - link to 2023 blog https://curesyngap1.org/blog/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration/ - S.Carolina3rd annual Scramble 10/5 - link to past events is here: https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2023/ - 3rd SYNGAP1 Conference, hosted by SRF in LA - Pre-register to receive updated info when it’s ready https://Syngap.Fund/24Pre - Planning committee needs volunteers; if interested in helping, contact stacey@curesynga

March 4, 2024

A very important questionnaire. Repurposing update & ethics. Grant shaping in progress! #S10e134

#S10e96 - https://www.youtube.com/watch?v=MkCKK4Z7J2I Rochester - Check. I asked in #S10e132 to do this and you stepped up, thank you. We hit 200! Aparito time Fill this in: https://forms.gle/4EsW3wu8BG4TQrD7A The intersection of biomarkers and repurposing: The latter could help us figure out which of the former to focus on which could be the difference between a drug making it. Repurposing: Friend message - “And I wanted to tell you about the worsening behavior with treatments: a friend of mine has a son with Dravet syndrome, and many years ago they started him on a drug that reduced the seizures quite a bit, and my friend used to say “with this new treatment cleaning his brain from all those EEG interferences, we are starting to see more of his personality… and we’ve realized that we don’t like him”. Very harsh but very real to say” Morning Video SM vs ASO vs AAV https://www.youtube.com/watch?v=-xp3kTsBz38 List of repurposed drugs: Ravicti® (glycerol phenylbutyrate) - https://www.youtube.com/watch?v=Rwwdifsu1g8 Butyrate - https://www.youtube.com/watch?v=hjl9Z5_uQws NAL - https://www.youtube.com/watch?v=TphYC3o2BJQ Pamelor® (nortriptyline) - https://www.youtube.com/watch?v=z0BdjDaWiMs Fycompa® (perampanel) - Need to have a webinar on this. Fycompa ® story from middle market country, Fycompa + Depakine + Risperadone. Wow. Ethics. Is it ethical to sit back and let our kids suffer? Thank you to Virginie who is helping with EEG grant and volunteers, we have her back from ciitizen! Thank you to those working on CZI grant too! Congratulations to Encarnation and the SYNGAP1 European Team for this coverage https://english.elpais.com/health/2024-02-12/unraveling-the-mystery-of-celias-inexplicable-disease.html Ed said: Syngap1Stories Episode 26 guest Paulina Polanco - released 2/13. Includes her Family Day talk in Orlando. Syngap.Fund/Stories Cafe Syngap1 Episode 11 guest Claudio Diaz - released 2/17 Syngap.Fund/Cafe Get Ready for Sprint - save the date 4/27/24 - sign up your teams now; Rifton is giving away another adaptive tricycle to a team who raises >$500 - Syngap.Fund/Sprint24 https://www.rifton.com/ (9 teams signed up as of 2/23 - we had 28 teams in 2023;) Orlando Family Day VideosUploaded to YouTube (https://www.youtube.com/playlist?list=PLjpr3a14_ls3PKu4oB_aeU_tfyYLE6-jj) Added to Paulina’s blog recap of the day (https://curesyngap1.org/blog/syngap1-family-day-2023-a-beacon-of-hope/); Videos include Science Day Recap as well as a separate video of Mike’s recap on “Where are we now?”, a summary of how parents can prepare for what’s coming in the next couple of years (https://youtu.be/-xp3kTsBz38?si=_qHKRsYz2uJDJR_F). SYNGAP1 Conference 2024 hosted by SRF - planning committee will start meeting soon; if interested in helping, contact [email protected] #SyngapConf SYNGAP1 Sibling Shanaye, a High School senior, is using her platform as the 2023 Hodgeman County Miss Teen Pageant winner to spread the word about SYNGAP1, which affects her younger sister Addison.YouTube Video - https://youtu.be/4L32aPNMSeM?si=EqNEhROdzvfGZxEQ Addison’s Warrior Story - https://curesyngap1.org/syngap-warriors/addison/ We teamed with Simons Searchlight for their annual Shine Your Searchlight Campaign - if you’re not signed up with Simons yet, sign up now - https://www.simonssearchlight.org/ Sydney & Sandy in S. Africa for Rare-X Rare Disease Conference - https://x.com/sandysmith317/status/1757669120928047520?s=20 We’re looking for state representatives and state advocates - fill out this form if you’re interested - https://docs.google.com/forms/d/e/1FAIpQLSfPWiyvAPuKif-h2bbMBqUKVLMeOeK-ISehbM9PvnReXMRjZg/viewformState Representatives - provide a point of contact for SYNGAP1 families (especially newly diagnosed) in your state to assist with information about registries, studies, fundraising, and other resources State Advocates - help families in your state navigate difficult systems (education, h

February 24, 2024

What is this SYNGAP1 illness / disease / syndrome / NDD / DEE / MRD5 / NSID actually called? #S10e133

A. MRD5 - https://www.ncbi.nlm.nih.gov/medgen/382611 B. SYNGAP1 NSID - https://pubmed.ncbi.nlm.nih.gov/21237447/ (Hamdan, 2011) C. SYNGAP1 NDD - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128754/ (Kilinc, 2011) D. Confusing https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.37189 (Parker, 2015)De Novo, Heterozygous, Loss-of-Function Mutations in SYNGAP1 Cause a Syndromic Form of Intellectual Disability E. SYNGAP1 DEE - https://pubmed.ncbi.nlm.nih.gov/30541864/ (Vlaskamp, 2019) F. SYNGAP1 Related-ID - ICD-10 & Hopkins - https://www.pnas.org/doi/abs/10.1073/pnas.2308891120 (Araki 2023) - https://curesyngap1.org/blog/syngap1-assigned-its-own-icd-10-code-f78-a1-srf/ (ICD-10, 2021) G. SYNGAP1 Related Disorders - https://www.chop.edu/conditions-diseases/syngap1-related-disorders H. SYNGAP1 Syndrome - ICD-11 - https://twitter.com/cureSYNGAP1/status/1730629792137883800 (2024) My vote (today) is that we have a disease that is a DEE called SYNGAP1 Related Disorders (SRD). These monogenic disorders are anything but monolithic. Disease vs. Syndrome, read this: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1480257/ (Cavalo, 2003)A syndrome is a recognizable complex of symptoms and physical findings which indicate a specific condition for which a direct cause is not necessarily understood...Once medical science identifies a causative agent or process with a fairly high degree of certainty, physicians may then refer to the process as a disease, not a syndrome. NDD vs DEE - We are a DEE“Neurodevelopmental disorders (NDD) encompass highly prevalent conditions such as autism and epilepsy, with cognitive disabilities alone affecting 1-3% of the global population. Developmental epileptic encephalopathies (DEE) are NDD characterized by epilepsy and delayed development or loss of developmental skills. Although the prevalence of DEEs remains to be determined, studies estimate that single-gene epilepsies occur in around 1 in 2100 births annually.”https://medicalxpress.com/news/2022-12-neurodevelopmental-epilepsy-disorder-genetic.html Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe!https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 133 of #Syngap10 - Feb 13, 2024#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

February 14, 2024

Congratulations to Encoded, Jaguar, Aparito and what will we count? How will we know these therapies are working? #S10e132

TWO Gene therapy INDs approved in the past week! JAG201 for SHANK3 https://pmsf.org/breaking-news-from-jaguar-gene-therapy/ ETX101 for SCN1A https://encoded.com/press-releases/encoded-therapeutics-announces-us-ind-clearance-and-australian-cta-approval-for-dravet-syndrome-gene-therapy-candidate-etx101/ Mike’s Gene Therapy Cheat Sheet https://docs.google.com/spreadsheets/d/1jwH5piRH9gOmylz-pCNd_DFnpEHJ6EkFyoaMjidBk6c/edit?usp=sharing TAKE THE ROCHESTER SURVEY https://redcap.link/NDDCaregiverSurvey SPRINT FOR SYNGAP24 is on! https://Syngap.Fund/Sprint24 APARITO ANNOUNCEMENT LI - https://www.linkedin.com/feed/update/urn:li:share:7157828674245783552/ X - https://x.com/cureSYNGAP1/status/1751969751621046667 FB - https://www.facebook.com/cureSYNGAP1/posts/pfbid07mabzGJhcZZZkm3vUy9EkZutAtTL16y4gytED52Xyzjayp3ew62zEXiDA8aEsuYWl This is the program: https://www.aparito.com/patient-group-programme/ RAVICTI GROUP https://www.facebook.com/groups/butyrate/ Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 132 of #Syngap10 - February 6, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

February 7, 2024

SYNGAP1 is complex, we need to partner with our clinicians to improve care & get ready for repurposing. #S10e131

SYNGAP1 is complex, we need to partner with our clinicians to improve care & get ready for repurposing. #S10e131 Three patient stories… with the same conclusion, we don’t know enough about this disease. - VNS, very few meds. If that is appealing, look for the VNS parents. www.facebook.com/groups/syngap1vns/ - Little lady on Kepra finally getting a new drug. - Big man getting really odd care, based on EEG These kids are so complicated and the system is just not ready. We can help by supporting the studies I mentioned in #S10e128 1 - NEW!!! GLOBAL - Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey 2 - GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. [email protected] 3 - GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. [email protected] 4 - USA: https://ciitizen.com/syngap1/srf/ as always! This data is critical and being used by multiple partners. Sign up/refresh! 5 - USA, East of the mountains: [email protected] free natural history study! #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado. Please get in there ASAP. 6 - Texas: QEEG at Cook Childrens. Email Corey. All studies are on https://curesyngap1.org/studies/ REPURPOSING Also, repurposing is coming fast. 4PB is going into kids in the US and doctors in the Netherlands, Poland and Turkey are paying attention. We have a hit from Chow that we are validating. Rarebase validation is coming soon… The question is how and what to measure. The other question is cost, stay tuned here. Grinspan https://youtu.be/Rwwdifsu1g8?si=jZSIiguKLMJv5nSh Rarebase https://youtu.be/z0BdjDaWiMs?si=eTNo0R7kG321XQ8_ Chow https://youtu.be/TphYC3o2BJQ?si=_W66T0SqzE0AQJWm I’m heading to PMWC tomorrow, really excited to share about SYNGAP1 with Justin, Yael and Nasha. https://pmwcintl.com/session/gene-and-cell-therapies-in-rare-diseases-track_2024sv New Things to Know about! CHANGES STUDY New study in Edinburgh - “Changes Study” - Sydni Weissgold & Dr. Andrew Stanfield with Patrick Wild Centre, the University of Edinburgh - questionnaires, interview, & EEG on child; ages 2-15 with SYNGAP1 diagnosis or no neurodevelopmental diagnosis (for comparison); test is in Edinburgh, follow-up 1 year later Changes Study - https://drive.google.com/file/d/1GQDl2qFHy0AH1I_z9Fl98wESdnurJPwO/view All Studies: https://curesyngap1.org/studies/ UCB USA Family Epilepsy Scholarship - https://Syngap.Fund/UCB24 Application deadline March 15 Same org that is giving away Sibling & Caregiver support kits - https://curesyngap1.org/sibling-support/ New blog about our YouTube channel & what you’ll find there - https://Syngap.Fund/YT24 - 368 videos organized into 25 channels - S10, 5 years of Roundtables (Engl & Span), Events, Caren, hidden gems from long ago Rare Disease Day What is Rare Disease Day & why is it the last day in February? You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill Fundraising Get Ready for Sprint - save the date 4/27/24 Getting organized: MDBR 6/8 2nd annual Golf Tourn in Canada 6/8 3rd annual Scramble 10/5 4th annual SRF Gala honoring Caren Leib 10/18 3rd SYNGAP1 Conference, hosted by SRF in LA - pre-register to receive updated info when it’s ready https://Syngap.Fund/24Pre New webpage - Ways to Give - small ways to encourage our network to give to SRF to fund research: https://Syngap.Fund/Ways Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 131 of #Syngap10 - January 23, 2024 #epilepsy #autism #

January 23, 2024

2024 is off to a GREAT start. Time to get clinical, let’s get all these studies oversubscribed and make sure industry knows we are ready. #S10e130

All week on an article (coming soon), but still time to… Meet a couple of new parents, hi Stacey Miller. Conf planning for LA is ON! Stacey will be heading to Stanford. https://curesyngap1.org/events/conferences/syngap1-conference-2024/ See Corey's trip to NYC. You need countable seizures to participate. Watch his talk at the conf.https://youtu.be/Rwwdifsu1g8 Talk to STXBP1 about Natural History Studies. This is something we need to think about together. e.g. a consensus protocol could save us a placebo arm. PubMed count is up to 2 for 2024, now a story from China. https://pubmed.ncbi.nlm.nih.gov/38171555/ Ed's been busy! Cafe Syngap Episode 8 went live https://curesyngap1.org/podcasts/cafe-syngap1/ Conference Family Day Recap by Paulina Polanco https://curesyngap1.org/blog/syngap1-family-day-2023-a-beacon-of-hope/ Conference Science Day Presentation Videos are being added to the blog (both English & Spanish versions, though videos are only available in English); soon they’ll all be added to the blog as well as on YouTube https://curesyngap1.org/blog/syngap1-conference-2023-science-day-a-summary/https://www.youtube.com/watch?v=dsztjHbsR38&list=PLjpr3a14_ls0mKD_Z6xD0vYHt2JtJ1YBD Studies - Rochester (need 100 more) https://drive.google.com/file/d/1w35jLJRZC3zCviyCHNHCFeh0dETctzLA/view CHOP/ENDD (need 50 more) https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view Newsletter #36 out Saturday AM Jan 6 https://mailchi.mp/syngapresearchfund.org/2023recap Resolutions for 2024 https://docs.google.com/document/d/1D-vTe_lH2iyfmu-5DobGx0hT2x7XGwx-WNcW8ElwDBg/edit Attend a conference or two (pre-register for Los Angeles) https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Write a blog, make a movie, share your Warrior’s story, be a guest on Stories or Cafe (contact [email protected] or [email protected]) Upcoming Webinar #86 James Goss (Five Years of Funding Innovative Research for SYNGAP1) link https://Syngap.Fund/Five Jan 18, 12:00 ET, 9:00 PT Rare Disease Day - join us in DC; two blog posts: What is Rare Disease Day & why is it the last day in February? https://curesyngap1.org/blog/what-is-rare-disease-day-why-is-it-the-last-day-in-february/ You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill https://curesyngap1.org/blog/you-should-represent-syngap1-during-rare-disease-week-on-capitol-hill/ Sign up for the studies I mentioned in #S10e128 1 - NEW!!! GLOBAL - Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey 2 - GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. [email protected] 3 - GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. [email protected] 4 - USA: https://ciitizen.com/syngap1/srf/ as always! This data is critical and being used by multiple partners. Sign up/refresh! 5 - USA, East of the mountains: [email protected] free natural history study! #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado. Please get in there ASAP. 6 - Texas: QEEG at Cook Childrens. Email Corey. All studies are on https://curesyngap1.org/studies/ Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 130 of #Syngap10 - January 12, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

January 13, 2024

Happy New Year! Happy 10th Birthday Tony! Congrats #Longboard. Publication update. Good feedback and frustrating stories. #S10e129

I talked about Longboard in #S10e71 (August 2022) https://www.youtube.com/watch?v=iPoOjKBwPfY, and e65 and e67. Here is the data: https://ir.longboardpharma.com/news-releases/news-release-details/longboard-pharmaceuticals-announces-positive-topline-data Conf was really good, I got feedback from Industry today with a great idea: Theater program for trial recruitment. Not too early to pre-register for LA! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Publications matter, we have 44 in 2023 which is a record, if we keep growing we should have 1 a week! (But it's never linear.) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&sort=pubdate Guess what the first pub in 2024 is about, CBD! https://www.linkedin.com/feed/update/urn:li:activity:7148489940832505857 This reminds me of a crazy story I heard this week, I need to share: Dr. won't add Clobazam Dr. pulled rec for CHOP with silly argument, Why he was wrong:QEEG is different Experts are experts and too few IRB approved studies gather data in a consistent way and help identify endpoints. Year in Review - we are moving mountains: https://curesyngap1.org/blog/srf-syngap1-the-year-in-review-2023/ Tony Update, 10 tomorrow. It's been a rough year MVSD has failed spectacularly All the schools are full and the one that wanted to grow, can't. Sign up for the studies I mentioned in #S10e128 1 - NEW!!! GLOBAL - Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey 2 - GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. [email protected] 3 - GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. [email protected] 4 - USA: https://ciitizen.com/syngap1/srf/ as always! This data is critical and being used by multiple partners. Sign up/refresh! 5 - USA, East of the mountains: [email protected] free natural history study! #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado. Please get in there ASAP. 6 - Texas: QEEG at Cook Childrens. Email Corey. All studies are on https://curesyngap1.org/studies/ (edited) Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 129 of #Syngap10 - January 5, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

January 5, 2024

Over the break: Studies to do, Research & Press to read, Funds to raise, Resources to update, Resolve to Volunteer #S10e128

Over the break: Studies to do, Research & Press to read, Funds to raise, Resources to update, Resolve to Volunteer #S10e128 A few studies to make sure you are in over the holidays! One brand new! NEW!!! GLOBAL - Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. [email protected] GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. [email protected] USA: https://ciitizen.com/syngap1/srf/ as always! This data is critical and being used by multiple partners. Sign up/refresh! USA, East of the mountains: [email protected] free natural history study! #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado. Please get in there ASAP. Texas: QEEG at Cook Childrens. Email Corey. All studies are on https://curesyngap1.org/studies/ Research Matters: Severe behavior problems in SYNGAP1-related disorder: A summary of 11 consecutive patients in a tertiary care specialty clinic - Free download until 2.1.24 1 with this link! https://authors.elsevier.com/c/1iFXZ5Qt1G-z5i - Webinar with 1st Author Ben Thomas coming in 2024! 43 Papers on Pubmed to date! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2023-2023&sort=pubdate Fundraising - Let’s get to $2M! Give Up Your Cup - https://Syngap.Fund/GUYC23 Hope for Harper is a great success - Thank you Justin and Ashley https://syngap.fund/harper Reminder on resources: Resources for Newly Diagnosed Families - https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families/ Tell your Warrior Story - [email protected] Volunteer - https://curesyngap1.org/volunteer-with-srf/ New Sibling Page - https://curesyngap1.org/syngap-siblings/ Great Press Lately - Suzanne! https://www.atlantanewsfirst.com/2023/12/21/georgia-parents-raising-awareness-their-daughters-rare-genetic-disorder/ Exciting! https://www.thetransmitter.org/spectrum/syngap1-findings-illuminate-links-between-mutations-intellectual-disability/ More on Organoids… https://news.wisc.edu/stem-cell-technology-developed-at-uw-madison-leads-to-new-understanding-of-autism-risks/ Chicagoland… https://phys.org/news/2023-11-approaches-gene-insufficiency.html Pods to catch up on!Cafe Syngap1 Episode 7 is live! https://podcasts.apple.com/us/podcast/episodio-07-marisol-parra-y-su-hija-isabella-desde/id1705809525?i=1000638623895 The Juggle is Real Episode 211 of Once Upon A Gene (also seen in episode 41 and 94!) https://effieparks.com/podcast/episode-211-the-juggle-is-real Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 128 of #Syngap10 - December 22, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

December 22, 2023

Ciitizen continues to evolve, but essential aspects remain: SYNGAP1 as a lead program & a strong team. +Support Harper #JuggleIsReal – #S10e127

12/28/20 - SRF Blog - https://curesyngap1.org/blog/10-reasons-we-chose-ciitizen-for-the-syngap1-digital-natural-history-study-srfdociitizen/ 9/7/21 - Invitae Press Release Acquisition - https://ir.invitae.com/news-and-events/press-releases/press-release-details/2021/Invitae-to-Acquire-Ciitizen-to-Strengthen-its-Patient-Consented-Health-Data-Platform-to-Improve-Personal-Outcomes-and-Global-Research/default.aspx 9/20/22 - Praxis uses ciitzen data for FDA submission for SCN2A https://www.prnewswire.com/news-releases/invitaes-real-world-ciitizen-data-utilized-in-praxis-precision-medicines-prax-222-ind-filing-301627677.html 10/25/23 - Pre-print of paper on SCN2A EEG Biomarker where ciitizen was involved https://www.medrxiv.org/content/10.1101/2023.10.24.23296360v1 12/1/23 - AES Poster - https://x.com/JillianLMcKee/status/1731420167672942878/ 12/13/23 - Invitae Press Release Divest - https://ir.invitae.com/news-and-events/press-releases/press-release-details/2023/Inv[…]h-Data-Platform-and-Implements-Further-Cost-Cuts/default.aspx 12/13/23 - Ciitizen Announcement - https://www.ciitizen.com/announcement/ Dream Team https://www.linkedin.com/in/nashafitter/ https://www.linkedin.com/in/faridvij/ https://www.linkedin.com/in/elli-brimble-82774798/ https://www.linkedin.com/in/deven-mcgraw-6650285/ Hope for Harper is still going, help us meet the $15k match! https://syngap.fund/harper https://givebutter.com/uNxleH The Juggle is Real Episode 211 of Once Upon A Gene (also seen in episode 41 and 94!) https://effieparks.com/podcast/episode-211-the-juggle-is-real Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 127 of #Syngap10 - December 14, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

December 15, 2023

A patient dosed, new site, audited financials, conference reviews, EOY giving, two studies to join! – #S10e126

Today a SYNGAP1 patient was dosed with 4PB. Thank you Dr. Grinspan! Have you seen our new site? Thx Ed, Dan and team! www.cureSYNGAP1.org Finances, we have two years of audited financials on https://curesyngap1.org/finances/ There are two reviews of the SYNGAP1 Conference and one of AES you need to read S1 https://curesyngap1.org/blog/syngap1-conference-2023-science-day-a-summary/ S1 https://www.draccon.com/dracaena-report/syngap2023 AES https://www.draccon.com/dracaena-report/aes2023 End of year Giving is afoot! Give up your cup https://givebutter.com/Iuwfzd Albrecht Match https://givebutter.com/uNxleH aka Syngap.Fund/Harper General Giving https://curesyngap1.org/donate/ Sign up for Adult Study led by Dr. Andrade, if you loved one is 17 or over please email [email protected] Sign up for NET Study, email [email protected] check out #S10e122 and the #SRFFrazier Release if you are not up to date! https://www.eurekalert.org/news-releases/1006753 Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 126 of #Syngap10 - December 12, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

December 12, 2023

ICD-11, SYNGAP1 Adult Paper & Study, AES, #SyngapConf, Frazier Eye Tracking Study – #S10e125

ICD-11 = LD90.Y #LD90Y https://x.com/cureSYNGAP1/status/1730629792137883800 Adult paper and study https://x.com/AledoNeuro/status/1726206128390848604 AES - Lots of SYNGAP1 incl paper with ciitizen data https://x.com/JillianLMcKee/status/1731420167672942878 RT23 - Science: Repurposing, VUS, Genetic Tx & Biomarkers - Chow https://x.com/CNSdrughunter/status/1730233903602872424 - VUS https://x.com/CNSdrughunter/status/1730268276989571512 - Genetic Therapies https://x.com/dretico/status/1730298959824875741 FD23 - 60 Families from 16 Countries. Awesome leadership. Sign up for Adult Study led by Dr. Andrade, if you loved one is 17 or over please email [email protected] Sign up for NET Study, email [email protected] check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning) https://www.eurekalert.org/news-releases/1006753 Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 125 of #Syngap10 - December 6, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

December 6, 2023

Giving Tuesday, #SyngapConf, #FasterCures & Happy Thanksgiving – #S10e123

Giving Tuesday, #SyngapConf, #FasterCures & Happy Thanksgiving - #S10e123 Giving Tuesday - 11/28/23 - https://Syngap.Fund/GT23 #SyngapConf https://Syngap.Fund/RT23 To help onsite with set up, registration, or anything else, contact Ashley ([email protected]), Kali ([email protected]), Corey ([email protected]) or Ed ([email protected]) or see them in Orlando! FasterCures https://www.harpercollins.com/products/faster-cures-michael-milken?variant=40641765802018 Bravo to Jess Johnson & EAN https://moco360.media/2023/11/17/new-moco-based-organization-brings-advocacy-for-epilepsy-funding-to-congress/ Amazing paper out from USC https://stemcell.keck.usc.edu/autism-linked-gene-syngap1-could-impact-early-stages-of-human-brain-development/ Sign up for NET Study, email [email protected] check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning) https://www.eurekalert.org/news-releases/1006753 Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 124 of #Syngap10 - November 18, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

November 19, 2023

The more we own our EEGs, the sooner we get a biomarker. Simple. And remember to get Dinner tickets for the conference! – #S10e123

Three Todos: 1 - Come to the #SRFconf and be sure to buy dinner tickets! https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund 2 - DC Families, go to this 11/14 event EAN matters: https://shoutout.wix.com/so/c7OkLF5nz 3 - Sign up for NET Study, email [email protected] check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning) https://www.eurekalert.org/news-releases/1006753 EEGS MATTER To get an EEG Biomarker, you need to collect EEGs. Not simple. This EEG from Angelman in 2021. (Syndrome defined in 1965, UBE3A in 1997) https://www.sciencedirect.com/science/article/pii/S2667174321000380 Check out this 2023 example for SCN2A (gene 1989, patient 2001) https://www.medrxiv.org/content/10.1101/2023.10.24.23296360v1 SYNGAP1 (gene 1998 Huganir, patient 2009 Michaud) Where’s our paper? Beacon Biosignals is a company we know: https://beacon.bio/ You are entitled to a copy of your medical records under HIPAA and they have 30 days to get it to you. https://www.hhs.gov/hipaa/for-professionals/faq/right-to-access-and-research/index.html EEGs (in .edf format) are much bigger than the rest of your medical records (pdf and images). Check out Tony’s https://drive.google.com/drive/folders/1vUMRMtnvTJJi7WEwcSrDSLArGL3vzFxH?usp=sharing Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 123 of #Syngap10 - November 3, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

November 3, 2023

Study Invitation – Everyone with a laptop can help us make an easy at home validated measure to de risk clinical trials. Sign up now for this #SRFunded effort – #S10e122 #SRFFrazier

Study Invitation - Everyone with a laptop can help us make an easy at home validated measure to de risk clinical trials. Sign up now for this #SRFunded effort - #S10e122 #SRFFrazier We need endpoints and assessment tools. We can help make it happen with this study. Let’s get to 100 participants. #SRFFrazier Grant 1 https://www.prnewswire.com/news-releases/syngap-research-fund-announces-srffrazier-grant-to-dr-thomas-frazier-of-john-carroll-university-301219503.html How to join study! https://drive.google.com/file/d/1rbJ1zwX3UVDJzWq2oa8fWKL--Wik4gF-/view?usp=drive_link Two papers already!! Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndrome https://pubmed.ncbi.nlm.nih.gov/37045800/ Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes https://pubmed.ncbi.nlm.nih.gov/37534867/ Raise funds for SYNGAP1 Research via SRF https://syngap.fund/give https://syngap.fund/gt23 > https://givebutter.com/SwK5Gt Register for the Dinner & Conference! 29 Days until the Conference - Join us! https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund #SyngapConf Conference Agenda! #S10e120 described the agenda… https://www.youtube.com/watch?v=Q9U-Ggz_K2I Detailed Agenda is here https://drive.google.com/file/d/1iKD-ZpDICXcaU85oBj0uWVVWuGrLJWJl/view Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 122 of #Syngap10 - November 1, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

November 1, 2023

SYNGAP1 Missense Variants: SRF Awards Turku $100,000 to Investigate Using Structural Bioinformatics – #S10e121

“The grant will fund the computational analysis of SYNGAP1  missense variants and the construction of an online server called SynGAP Missense (SGM) server providing clinicians and others open access to the modeling and bioinformatics results.” Types of mutations https://youtu.be/xYOK-yzUWSI SYNGAP1 on Alphafold https://alphafold.ebi.ac.uk/entry/F6SEU4 Dr. Underbake on Disordered/Unstructured Proteins https://youtu.be/Q11q_m_tV88?si=Ix9Gr7RSiCdFCgqH&t=830 Common Missense https://www.syngapresearchfund.org/post/syngap1-frequent-de-novo-missense-variant-alert-study-opportunity-for-p-gly344 Young c.980T>C p.Leu327Pro http://clinvar.com/ SYNGAP1 c.980C>T 2015 UK https://pubmed.ncbi.nlm.nih.gov/26079862/ 2018 SK https://pubmed.ncbi.nlm.nih.gov/29390993/ SRF iPSCs https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments Dr. Courtney Grant https://www.eurekalert.org/news-releases/957967 Dr. Courtney Webinar https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations Dr. Haas Webinar https://www.syngapresearchfund.org/webinars/functional-assessment-of-missense-variants-of-syngap1-kurt-haas EpiMVP https://epimvp.med.umich.edu/ https://leonandfriends.org/ started this work https://www.syngapresearchfund.org/leon #S10e73 https://www.youtube.com/watch?v=FJgXP4l0cuk Register for the Conference! 35 Days until the Conference - Sign up by Halloween. https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2023-hosted-by-syngap-research-fund-srf #SyngapConf Conference Agenda Announced! #S10e120 described the agenda… https://www.youtube.com/watch?v=Q9U-Ggz_K2I Press release https://www.syngapresearchfund.org/post/uniting-for-progress-the-fifth-annual-syngap1-conference-hosted-by-syngap-research-fund-srf-will-take-place-november-30th-in-orlando-florida-syngapconf Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 121 of #Syngap10 - October 25, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

October 25, 2023

Meetings Matter. Join this community at the #SyngapConf. The Gala was a hit (again). And our report from #PCEM2023. Vicky’s at #Bio – #S10e120

#SyngapConf Conference Agenda Announced! https://www.syngapresearchfund.org/post/uniting-for-progress-the-fifth-annual-syngap1-conference-hosted-by-syngap-research-fund-srf-will-take-place-november-30th-in-orlando-florida-syngapconf Register for the Conference! 37 Days until the Conference - Sign up by Halloween. https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2023-hosted-by-syngap-research-fund-srf Dinner is Separate - Join us! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2023-caregiver-dinner Nancy is a gem https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-020-nancy-kessler Gala was a huge success https://www.syngapresearchfund.org/families/caren-leib-gala-syngap-research-fund #PCEM2023 was fun https://x.com/Science_Hood/status/1716471587275227389 Vicky’s at #BIOPatientSummit23 https://x.com/VickyAArteaga/status/1716506175024361836 https://x.com/VickyAArteaga/status/1716176260244611354 Give us 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 120 of #Syngap10 - October 24, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

October 24, 2023

“I’m afraid to Hope again…” & Melissa – Reflections on ENDD at CHOP, #UFDCure Cannonball, Scramble – #S10e119

“I’m afraid to Hope again…” & Melissa – Reflections on ENDD at CHOP, #UFDCure Cannonball, Scramble - #S10e119 My trip summary to CHOP. Melissa and her family are remarkable. “Doing this for the next generation.” Why are we afraid to hope? Because fear is winning. Everything comes from Fear or Love. Focus on the love. Feed that one. https://www.demellospirituality.com/love-or-fear/ https://www.urbanbalance.com/the-story-of-two-wolves/ #UFDCure Cannonball - October 4-6 $128,075.83 so far at 83.6% https://www.youtube.com/watch?v=ilnPIwVy6oY https://www.syngapresearchfund.org/cannonballhttps://x.com/UFDTech/status/1711488218636357818?s=20 Scramble - October 7, 2023 Have you read the Syngap Story on Julie yet? 52 Days until the Conference - Sign up by Halloween - We need head counts. Registration & Hotels Conference and Wild Type Shirts: Share your time and blood too!Sign up for ciitizen! Sign up for CHOP! Volunteer! Give us 5 stars everywhere. Like Apple podcasts! This is a podcast subscribe!Episode 119 of #Syngap10 - October 9, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

October 10, 2023

#SyngapCensus, #UFDCure Cannonball, Scramble, PRAX-222 & ciitizen, and a #mustread — #S10e118

#SyngapCensus https://www.syngapresearchfund.org/post/syngapcensus-2023-update-59-in-q3-2023-total-1-297 #UFDCure Cannonball - October 4-6 https://www.syngapresearchfund.org/cannonball Effie on CBall https://effieparks.com/podcast/effisode-074-syngap-cannonball-for-a-cure Pre-party https://x.com/UFDTech/status/1709366677261987862 Scramble - October 7, 2023 Stories https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-019 Site https://www.syngapresearchfund.org/families/scramble-for-syngap-syngap-research-fund PRAX-222 & ciitizen Marcio https://youtu.be/ibgINIFPFRk?si=Rtxe3rlTUWdMYGvg Pressers 9/20 https://www.prnewswire.com/news-releases/invitaes-real-world-ciitizen-data-utilized-in-praxis-precision-medicines-prax-222-ind-filing-301627677.html 10/2 https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-portfolio-update-2023-rd-day #mustread Essay by Jennifer: https://effieparks.com/blog/2023/9/30/sometimes-there-is-no-silver-lining Book: https://www.amazon.com/Self-Compassion-Proven-Power-Being-Yourself/dp/0061733520/ Wild Type Campaign https://www.bonfire.com/wild-type-syngap1-1/ Conference - Sign up by Halloween - We need head counts. Registration link: https://Syngap.Fund/Orlando Hotels: https://Syngap.Fund/2023hotel Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/ Share your time and blood too!Sign up for ciitizen!Sign up for CHOP! Volunteer! Give us 5 stars everywhere. Like Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Episode 118 of #Syngap10 - October 3, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

October 4, 2023

Plan on #RDW now, it’s been a banner week for high quality SYNGAP1 info – Cannonball is next week! — #S10e117

CALLS TO ACTION Plan on Rare on the Hill - Week of February 25th in DC Watch #S10e96 https://www.youtube.com/watch?v=MkCKK4Z7J2I Timeline https://everylifefoundation.org/rare-advocates/rare-disease-week-2023/rare-disease-week-agenda-2024/ Apply for support https://www.surveymonkey.com/r/CJPHMS9 Take this surveySurvey https://unmcmmi.co1.qualtrics.com/jfe/form/SV_bxObDOAeWxesIBM Tweet https://x.com/PedsGCAbby/status/1706446478904811750 Great papers Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders https://x.com/cureSYNGAP1/status/1706770818703953955 Context-dependent hyperactivity in syngap1a and syngap1b #zebrafish #autism models https://x.com/cureSYNGAP1/status/1706772916543893597 Sensorimotor Integration Supporting Perception Requires Syngap1 Expression in Cortex https://x.com/cureSYNGAP1/status/1707475941348540894?s=20 We’re at 248 before the BioRxiv https://x.com/cureSYNGAP1/status/1707516877558501652?s=20 Watch the Epic Stanfield Webinar - Behaviour, Cognition and Sensory Processing in People with SYNGAP1 https://www.syngapresearchfund.org/webinars/82-behaviour-cognition-and-sensory-processing-in-people-with-syngap1 Sign up for the next one 10/26 12PM ET Bryan Dickinson, PhD Webinar on Oligos that target translation to restore SYNGAP1 levels https://www.syngapresearchfund.org/webinars/83-oligos-that-target-translation-to-restore-syngap1-levels ILAE Interview on MAD https://www.ilae.org/journals/epigraph/epigraph-vol-25-issue-3-summer-2023/research-recap-modified-atkins-diet-and-health-related-quality-of-life-dr-magnhild-kverneland More Recent Killer Content Elle (Mickey) Sanderson Special Monthly Zoom Meeting on being an advocate; https://www.youtube.com/watch?v=B1sTsYAfaoA Café SYNGAP1 dropped 2nd episode 9/27 with Juanita Polanco https://www.syngapresearchfund.org/cafe-syngap1-podcast/cafe-syngap1-episode-02 - next episode 10/5 Simons quarterly report (links to summary, full report, video to help understand charts). Sign up https://www.simonssearchlight.org/research/what-we-study/syngap1/ Upcoming Amazing Events Cannonball starts Wednesday 10/4-10/6; Brett, Peter, Monica & Reece (works with Brett) $65,000 in giveaways! Live-stream link will be available soon https://www.syngapresearchfund.org/cannonball Scramble 10/7 Julie Miles in Travelers Rest, SC; she is guest on SYNGAP1 Stories dropping Tues 10/3 - https://www.syngapresearchfund.org/families/scramble-for-syngap-syngap-research-fund; link to Stories - https://www.syngapresearchfund.org/syngap-stories Park City Epilepsy Mtg 10/15 - 10/17; Mike & JR 10/18 - Mike keynote at The Enabling Patient Access to Health Data for Actionable Results virtual event by the Office of the National Coordinator for Health Information Technology (ONC) and Centers for Medicare and Medicaid Services (CMS) Gala 10/21 https://www.syngapresearchfund.org/families/caren-leib-gala-syngap-research-fund Conference - Sign up by Halloween - We need head counts. - Registration link: https://Syngap.Fund/Orlando - Hotels: https://Syngap.Fund/2023hotel - Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/ Share your time and blood too! - Sign up for ciitizen! - Sign up for CHOP! - Volunteer! - Give us 5 stars everywhere. Like Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Episode 117 of #Syngap10 - September 29, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

September 29, 2023

Getting ready for Global Genes, Cannonball Scramble Gala & the SYNGAP1 Conference — #S10e116

Congrats to… - Allen Burke on his airborne fundraiser for SRF UK - Aaron and Monica Harding on their Military Lifegiver Podcast (start at 7 minutes) - Beacon on their FDA approval on the Sleep Headband Dream 3S - Soiree 8/26 - $300K net raised by Suzanne - Katrien on the ILAE #SYNGAP10 #S10e115 Webinar coming up: Behaviour, Cognition and Sensory Processing in People with SYNGAP1 Register: https://us02web.zoom.us/webinar/register/WN_tXX0ZKcgQqm9heZgf0AfDg Sept 28 @ 9am PT/ 5pm GMT Still a classic: Mike to FDA on SYNGAP1 For ORCA https://www.youtube.com/watch?v=AObE7NhSlmg&t=447s Events to mention in SYNGAP10 - Global Genes, DEI - 9/18 - 9/23 - Vicky and Mike - 2nd Scientific Conference in Spanish (virtual) 9/23 - Cannonball 10/4-10/6; Brett, Peter, Monica & Reece listen to Stories Episode 12 MH! - Scramble 10/7 Julie Miles https://syngap.fund/scramble - Park City Epilepsy Mtg 10/15 - 10/17; Mike, JR - Gala 10/21 Nancy Kessler https://syngap.fund/CLG3 - Conference 11/30 & 12/1 + Sea World or Disney 12/2 Conference - Sign up by Halloween - We need head counts. - Registration link: https://Syngap.Fund/Orlando - Hotels: https://Syngap.Fund/2023hotel - Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/ Share your time and blood too! - Sign up for ciitizen! - Sign up for CHOP! - Volunteer! Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069) - Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 116 of #Syngap10 - September 18, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

September 19, 2023

Getting ready for Global Genes, Cannonball Scramble Gala & the SYNGAP1 Conference — #S10e116

Congrats to… - Allan Blake on his airborne fundraiser for SRF UK - Aaron and Monica Harding on their Military Lifegiver Podcast (start at 7 minutes) - Beacon on their FDA approval on the Sleep Headband Dream 3S - Soiree 8/26 - $300K net raised by Suzanne - Katrien on the ILAE #SYNGAP10 #S10e115 Webinar coming up: Behaviour, Cognition and Sensory Processing in People with SYNGAP1 Register: https://us02web.zoom.us/webinar/register/WN_tXX0ZKcgQqm9heZgf0AfDg Sept 28 @ 9am PT/ 5pm GMT Still a classic: Mike to FDA on SYNGAP1 For ORCA https://www.youtube.com/watch?v=AObE7NhSlmg&t=447s Events to mention - Global Genes, DEI - 9/18 - 9/23 - Vicky and Mike - 2nd Scientific Conference in Spanish (virtual) 9/23 - Cannonball 10/4-10/6; Brett, Peter, Monica & Reece listen to Stories Episode 12 MH! - Scramble 10/7 Julie Miles https://syngap.fund/scramble - Park City Epilepsy Mtg 10/15 - 10/17; Mike, JR - Gala 10/21 Nancy Kessler https://syngap.fund/CLG3 - Conference 11/30 & 12/1 + Sea World or Disney 12/2 Conference - Sign up by Halloween - We need head counts. - Registration link: https://Syngap.Fund/Orlando - Hotels: https://Syngap.Fund/2023hotel - Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/ Share your time and blood too! - Sign up for ciitizen! - Sign up for CHOP! - Volunteer! Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069) - Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 116 of #Syngap10 - September 18, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

September 19, 2023

Katrien Deckers reflects on European 🇪🇺 Epilepsy Conference – #S10e115 (Volume up)

Katrien Deckers reflects on European 🇪🇺 Epilepsy Conference - #S10e115 (Volume up) Katrien: https://www.syngapresearchfund.org/team/katrien-deckers-chairperson Dr. Eschermann's Slides https://www.patre.info/2023/09/04/presentation-at-iec-2023/ EURAS Project Press Release https://euras-project.eu/ Register for the SRF Conference, it’s going to be fabulous. - Registration link: https://Syngap.Fund/Orlando - Hotels ASAP: https://Syngap.Fund/2023hotel - Merch https://www.bonfire.com/srf-syngap1-conference-2023/ Volunteer with SRF! - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 - https://www.syngapresearchfund.org/syngap10-podcastApple podcasts: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 115 of #Syngap10 - September 17, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

September 17, 2023

Katrien Deckers reflects on European 🇪🇺 Epilepsy Conference – #S10e115 (Volume up)

Katrien: https://www.syngapresearchfund.org/team/katrien-deckers-chairperson Dr. Eschermann's Slides https://www.patre.info/2023/09/04/presentation-at-iec-2023/ EURAS Project Press Release https://euras-project.eu/ Register for the SRF Conference, it’s going to be fabulous. - Registration link: https://Syngap.Fund/Orlando - Hotels ASAP: https://Syngap.Fund/2023hotel - Merch https://www.bonfire.com/srf-syngap1-conference-2023/ Volunteer with SRF! - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 - https://www.syngapresearchfund.org/syngap10-podcastApple podcasts: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 115 of #Syngap10 - September 17, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

September 17, 2023

Naya, Pods, ILAE, Warriors, Talking to Pharma, Monica H. is doing Cannonball! Another week in Syngap-land — #S10e114

Video - Thank you Alexis - https://youtu.be/xPbE0vg33eU - Dads in denial! Could be a good t-shirt.Invitae story - https://blog.invitae.com/real-stories-naya-e-c37930c2e83 Pods - Review! Five stars! - Channel :https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 - S10: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 - Stories: https://podcasts.apple.com/us/podcast/syngap1-stories/id1667705687 - Cafe SYNGAP1:: https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525 CHOP - Sign up! https://drive.google.com/file/d/1eCVGmQ5b3RfL0ZiMpjoWIgVpFaSfEVOh/view?usp=drivesdk ILAE Dublin was a great success - - Ana’s Tweet: https://twitter.com/CNSdrughunter/status/1699754342125847023 - Ana’s Webinar: https://www.syngapresearchfund.org/webinars/treatments-in-development-for-epilepsy-syndromes-opportunities-for-syngap1 Warriors - Sign up - https://www.syngapresearchfund.org/syngap-warrior/addison Conference - Sign up by Halloween - We need head counts. - Registration link: https://Syngap.Fund/Orlando - Hotels ASAP: https://Syngap.Fund/2023hotel - Shirts https://www.bonfire.com/srf-syngap1-conference-2023/ Presentations - Pharma - To follow https://syngap.fund/23 - UCB-Digital Health - Agenda - https://med.stanford.edu/ucbcollaborative/events/2023-digital-health-symposium.html#agenda - Sign up for Ciitizen. https://www.ciitizen.com/SYNGAP1/SRF/ - It matters, this data is bringing data to companies & making SYNGAP1 more attractive. SHARE YOUR DATA. - If you have issues, email Virginie and Mequel. CANNONBALL 3 is coming! October 4-6. Takeover coming soon. - Monica is going on the road! https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-012 Share your time and blood too!Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069) - Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 114 of #Syngap10 - September 10, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

September 10, 2023

Naya, Pods, ILAE, Warriors, Talking to Pharma, Monica H. is doing Cannonball! Another week in Syngap-land — #S10e114

Video - Thank you Alexis - https://youtu.be/xPbE0vg33eU - Dads in denial! Could be a good t-shirt.Invitae story - https://blog.invitae.com/real-stories-naya-e-c37930c2e83 Pods - Review! Five stars! - Channel :https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 - S10: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 - Stories: https://podcasts.apple.com/us/podcast/syngap1-stories/id1667705687 - Cafe SYNGAP1:: https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525CHOP - Sign up! https://drive.google.com/file/d/1eCVGmQ5b3RfL0ZiMpjoWIgVpFaSfEVOh/view?usp=drivesdkILAE Dublin was a great success - - Ana’s Tweet: https://twitter.com/CNSdrughunter/status/1699754342125847023 - Ana’s Webinar: https://www.syngapresearchfund.org/webinars/treatments-in-development-for-epilepsy-syndromes-opportunities-for-syngap1Warriors - Sign up - https://www.syngapresearchfund.org/syngap-warrior/addisonConference - Sign up by Halloween - We need head counts. - Registration link: https://Syngap.Fund/Orlando - Hotels ASAP: https://Syngap.Fund/2023hotel - Shirts https://www.bonfire.com/srf-syngap1-conference-2023/ Presentations - Pharma - To follow https://syngap.fund/23 - UCB-Digital Health - Agenda - https://med.stanford.edu/ucbcollaborative/events/2023-digital-health-symposium.html#agendaSign up for Ciitizen. https://www.ciitizen.com/SYNGAP1/SRF/ - It matters, this data is bringing data to companies & making SYNGAP1 more attractive. SHARE YOUR DATA. - If you have issues, email Virginie and Mequel. CANNONBALL 3 is coming! October 4-6. Takeover coming soon. - Monica is going on the road! https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-012 Share your time and blood too!Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069)- Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 114 of #Syngap10 - September 10, 2023#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

September 10, 2023

Fondo sets the bar for LatAm Engagement, Samar’s interview, Andrade’s paper, the 2nd Soiree was a hit, grants are rolling in! — #S10e113

Super Heroine: Vicky Arteaga Fondo Syngap is tireless: - 2 Congreso en Español on September 23, 2023 https://www.syngapresearchfund.org/professionals/2023-en-espanol Spanish Podcast #CafeSyngap1e01 - YouTube https://www.youtube.com/watch?v=dh0lPuLLUFg - Google https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9lNjAyMDgwMC9wb2RjYXN0L3Jzcw - Spotify https://spotify.link/MJZZVMoKGCb - Amazon Music https://music.amazon.com/podcasts/6e65b878-4506-4882-b6cd-1ea873c0ba7e/caf%C3%A9-syngap1 #FondoSYNGAP SRF is at ILAE - Let’s thank Katrien Deckers & Olga for representing SRF at ILAE in Dublin Sep 2nd - 6 - Vicky on one of the panels on Saturday called: Clinical diagnostic challenges in the genetic epilepsies and opportunities for precision treatment Super Heroine: Ashley Frye with Suzanne Jones and Samar Katnani #SyngapStories #KETO #MAD - Samar Interview https://twitter.com/cureSYNGAP1/status/1693987401952342442?s=20 - Keto works, remember this old gem? https://www.syngapresearchfund.org/post/ketogenic-diet Where have I been all week? - Syngap Stories about Tony https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-016 Soiree was AMAZING- Tweet https://twitter.com/curesyngap1/status/1696595956467183904- Ashley’s Speech https://www.youtube.com/watch?v=qw2mG3wTjfc Super Heroine: Sydney Stelmazek - CHOP Update - 16 seen so far - 27 signed up - QEEG is SYNGAP1 compatible https://twitter.com/phalliburton/status/1694845802336641315?s=20 CANNONBALL 3 is coming! October 4-6. Super Heroine: Dr. Danielle Andrade Huge thanks to Dr. Andrade for this paper on Adults with SYNGAP1 https://twitter.com/DrDaniAndrade/status/1694717693080092976?s=20 Proposals came in today, we need to raise money!Finally, we have at least 6 grant proposals received! Donate and Fundraise! https://www.syngapresearchfund.org/donate/donate Share you time and blood too!Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069) - Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611 CONFERENCE Registration link: https://Syngap.Fund/Orlando Hotels ASAP: https://Syngap.Fund/2023hotel Shirts https://www.bonfire.com/srf-syngap1-conference-2023/ Volunteer with SRF! [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 113 of #Syngap10 - September 2, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

September 2, 2023

Fondo sets the bar for LatAm Engagement, Samar’s interview, Andrade’s paper, the 2nd Soiree was a hit, grants are rolling in! — #S10e113

Super Heroine: Vicky Arteaga Fondo Syngap is tireless: - 2 Congreso en Español on September 23, 2023 https://www.syngapresearchfund.org/professionals/2023-en-espanol Spanish Podcast #CafeSyngap1e01 - YouTube https://www.youtube.com/watch?v=dh0lPuLLUFg - Google https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9lNjAyMDgwMC9wb2RjYXN0L3Jzcw - Spotify https://spotify.link/MJZZVMoKGCb - Amazon Music https://music.amazon.com/podcasts/6e65b878-4506-4882-b6cd-1ea873c0ba7e/caf%C3%A9-syngap1 #FondoSYNGAP SRF is at ILAE - Let’s thank Katrien Deckers & Olga for representing SRF at ILAE in Dublin Sep 2nd - 6 - Vicky on one of the panels on Saturday called: Clinical diagnostic challenges in the genetic epilepsies and opportunities for precision treatment Super Heroine: Ashley Frye with Suzanne Jones and Samar Katnani #SyngapStories #KETO #MAD - Samar Interview https://twitter.com/cureSYNGAP1/status/1693987401952342442?s=20 - Keto works, remember this old gem? https://www.syngapresearchfund.org/post/ketogenic-diet Where have I been all week? - Syngap Stories about Tony https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-016 Soiree was AMAZING- Tweet https://twitter.com/curesyngap1/status/1696595956467183904- Ashley’s Speech https://www.youtube.com/watch?v=qw2mG3wTjfc Super Heroine: Sydney Stelmazek - CHOP Update - 16 seen so far - 27 signed up - QEEG is SYNGAP1 compatible https://twitter.com/phalliburton/status/1694845802336641315?s=20 CANNONBALL 3 is coming! October 4-6. Super Heroine: Dr. Danielle Andrade Huge thanks to Dr. Andrade for this paper on Adults with SYNGAP1 https://twitter.com/DrDaniAndrade/status/1694717693080092976?s=20 Proposals came in today, we need to raise money!Finally, we have at least 6 grant proposals received! Donate and Fundraise! https://www.syngapresearchfund.org/donate/donate Share you time and blood too!Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069) - Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611 CONFERENCE Registration link: https://Syngap.Fund/Orlando Hotels ASAP: https://Syngap.Fund/2023hotel Shirts https://www.bonfire.com/srf-syngap1-conference-2023/ Volunteer with SRF! [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 113 of #Syngap10 - September 2, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

September 2, 2023

Stanford Grant, CSC, UCSF Study, SYNGAP1 Case Report, Conference – #s10e112

Congratulations to Dr. Knowles, read our press release. https://www.syngapresearchfund.org/post/syngap-research-fund-srf-awards-130-000-grant-to-advance-research-on-maladaptive-myelination-syngap1-related-epilepsy Check out the CSC Clinic at Stanford https://www.syngapresearchfund.org/post/srf-announces-stanford-launches-california-synaptopathy-clinic-syngap1 Don’t miss #S10e111 to learn about Dr. Helbig https://www.youtube.com/watch?v=i6EZUrqsn2g In you are coming to or near SF, please go to the Willsey Lab and do the breathing test with your SYNGAPian https://www.syngapresearchfund.org/post/very-easy-non-invasive-irb-approved-study-open-to-all-syngap1-patients-available-at-ucsf Congratulations to Dr. Kadam for the SRF supported Case Study Publication: https://www.frontiersin.org/articles/10.3389/fneur.2023.1221161/full Tweet: https://twitter.com/cureSYNGAP1/status/1692227117126439099 Register for the conference, it’s going to be fabulous. - Registration link: https://Syngap.Fund/Orlando - Hotels ASAP: https://Syngap.Fund/2023hotel - Merch https://www.bonfire.com/srf-syngap1-conference-2023/ Volunteer with SRF! - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 - https://www.syngapresearchfund.org/syngap10-podcastApple podcasts: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 112 of #Syngap10 - August 18, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

August 18, 2023

Stanford Grant, CSC, UCSF Study, SYNGAP1 Case Report, Conference – #s10e112

Congratulations to Dr. Knowles, read our press release. https://www.syngapresearchfund.org/post/syngap-research-fund-srf-awards-130-000-grant-to-advance-research-on-maladaptive-myelination-syngap1-related-epilepsy Check out the CSC Clinic at Stanford https://www.syngapresearchfund.org/post/srf-announces-stanford-launches-california-synaptopathy-clinic-syngap1 Don’t miss #S10e111 to learn about Dr. Helbig https://www.youtube.com/watch?v=i6EZUrqsn2g In you are coming to or near SF, please go to the Willsey Lab and do the breathing test with your SYNGAPian https://www.syngapresearchfund.org/post/very-easy-non-invasive-irb-approved-study-open-to-all-syngap1-patients-available-at-ucsf Congratulations to Dr. Kadam for the SRF supported Case Study Publication: https://www.frontiersin.org/articles/10.3389/fneur.2023.1221161/full Tweet: https://twitter.com/cureSYNGAP1/status/1692227117126439099 Register for the conference, it’s going to be fabulous. - Registration link: https://Syngap.Fund/Orlando - Hotels ASAP: https://Syngap.Fund/2023hotel - Merch https://www.bonfire.com/srf-syngap1-conference-2023/ Volunteer with SRF! - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fundThis is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 - https://www.syngapresearchfund.org/syngap10-podcastApple podcasts: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 112 of #Syngap10 - August 18, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

August 18, 2023

So much news, double catch up episode. #S10e111

*Note, we are aware part of the video froze; that’s life! RESEARCH! - Dr. Helbig gave a killer presentation today… at Stanford. It was so cool to see SYNGAP1 mentioned. “Deciphering the Epilepsy Phenome – Understanding Longitudinal disease trajectories and outcomes” it showed how much data you can get form EHRs, ciitizen and NHS. We need them all. Sign up for Ciitizen! https://www.ciitizen.com/SYNGAP1/ - SRF Supported work out of Huganir’s Lab is on BioRx! https://www.biorxiv.org/content/10.1101/2023.08.06.552111v1.full.pdf - Grants due on 9/1, already seeing good stuff. https://www.syngapresearchfund.org/professionals/grants/how-to-apply VOLUNTEER SITE IS UP - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund WEBINARS ARE A VALUABLE RESOURCE - https://www.syngapresearchfund.org/families/resources/all-webinars/webinars - Yesterday, Dr. Underbakk, Previously with Dr. Courtney NPR ARTICLE INCLUDING JACKIE KANCIR - https://wpln.org/post/episodes/the-cost-of-care-for-disabilities-and-chronic-illness SYNGAP STORIESAshley Frye is killing it. Suzanne Jones just did an episode. The CHOP team listens, so do clinicians. Call Ashley and share your story. COMPANY UPDATES - Stoke had great news - https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-reports-second-quarter-financial-results-2 - Praxis also having good results - https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-9 - Have not heard from RegEl or Ionis. EVENTS - Getting ready for the Soiree - August 26th. - Cannonball set for October 4-6 - SRF SYNGAP1 CONFERENCE - Register, book etc. https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund - Watch #s10e109 https://youtu.be/to8SAwdzCmg BIOMARKERS NEED BIOSAMPLES AND EEGS - Combined Brain collections are great Dr. TJB met our very own Pavel this weekend! Plasma, plasma, plasma. - UCLA Study is moving forward for EEG collection. Contact Declan via study page. Upcoming times and places to do biosamples, thanks you Corey we are at 18 Syngapians and 21 Siblings. KEEP GOING - GLUT1 Deficiency, August 26th, 9am-5pm (Embassy Suites, 13700 Conference Center Drive South, Noblesville, IN 46060) - IRF2BPL Foundation, Sept 22nd-23rd 2023 (Home 2 Suites by Hilton, 7145 Liberty Centre Drive, Liberty Township, OH 45069, 513-644-2207) - KCNQ2 Cure Alliance Conference, Sept 29th-30th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611) - NARS1 Conference, October 1st, 9am-5pm (13550 Commerce Blvd Rogers, MN 55374) - Prader-Willi Syndrome/USP7 Foundation, October 5-7 (1672 Lawrence St, Denver, CO 80202) - TBRS Community, Oct 12th-14th 2023 (Morgan’s Wonderland, 5223 David Edwards Dr, San Antonio, TX 78233) - COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC) - FAM177A1, Oct 29th 2023, 9am-5pm (2737 77th Ave Se Suite 101 Mercer Island, WA 98040) - ADNP Syndrome, Oct 30th-Nov 1st 2023 (Los Angeles, CA) - SYNGAP1 Research Fund, Dec 1st-3rd 2023 (8978 International Drive Orlando, FL, 32819) —--- CONFERENCE Registration link: https://Syngap.Fund/Orlando Hotels ASAP: https://Syngap.Fund/2023hotel Shirts https://www.bonfire.com/srf-syngap1-conference-2023/ Volunteer with SRF! [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 111 of #Syngap10 - August 12, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

August 12, 2023

So much news, double catch up episode. #S10e111

*Note, we aware part of the video froze; that’s life! RESEARCH! - Dr. Helbig gave a killer presentation today… at Stanford. It was so cool to see SYNGAP1 mentioned. “Deciphering the Epilepsy Phenome – Understanding Longitudinal disease trajectories and outcomes” it showed how much data you can get form EHRs, ciitizen and NHS. We need them all. Sign up for Ciitizen! https://www.ciitizen.com/SYNGAP1/ - SRF Supported work out of Huganir’s Lab is on BioRx! https://www.biorxiv.org/content/10.1101/2023.08.06.552111v1.full.pdf - Grants due on 9/1, already seeing good stuff. https://www.syngapresearchfund.org/professionals/grants/how-to-apply VOLUNTEER SITE IS UP - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund WEBINARS ARE A VALUABLE RESOURCE - https://www.syngapresearchfund.org/families/resources/all-webinars/webinars - Yesterday, Dr. Underbakk, Previously with Dr. Courtney NPR ARTICLE INCLUDING JACKIE KANCIR - https://wpln.org/post/episodes/the-cost-of-care-for-disabilities-and-chronic-illness SYNGAP STORIESAshley Frye is killing it. Suzanne Jones just did an episode. The CHOP team listens, so do clinicians. Call Ashley and share your story. COMPANY UPDATES - Stoke had great news - https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-reports-second-quarter-financial-results-2 - Praxis also having good results - https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-9 - Have not heard from RegEl or Ionis. EVENTS - Getting ready for the Soiree - August 26th. - Cannonball set for October 4-6 - SRF SYNGAP1 CONFERENCE - Register, book etc. https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund - Watch #s10e109 https://youtu.be/to8SAwdzCmg BIOMARKERS NEED BIOSAMPLES AND EEGS - Combined Brain collections are great Dr. TJB met our very own Pavel this weekend! Plasma, plasma, plasma. - UCLA Study is moving forward for EEG collection. Contact Declan via study page. Upcoming times and places to do biosamples, thanks you Corey we are at 18 Syngapians and 21 Siblings. KEEP GOING - GLUT1 Deficiency, August 26th, 9am-5pm (Embassy Suites, 13700 Conference Center Drive South, Noblesville, IN 46060) - IRF2BPL Foundation, Sept 22nd-23rd 2023 (Home 2 Suites by Hilton, 7145 Liberty Centre Drive, Liberty Township, OH 45069, 513-644-2207) - KCNQ2 Cure Alliance Conference, Sept 29th-30th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611) - NARS1 Conference, October 1st, 9am-5pm (13550 Commerce Blvd Rogers, MN 55374) - Prader-Willi Syndrome/USP7 Foundation, October 5-7 (1672 Lawrence St, Denver, CO 80202) - TBRS Community, Oct 12th-14th 2023 (Morgan’s Wonderland, 5223 David Edwards Dr, San Antonio, TX 78233) - COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC) - FAM177A1, Oct 29th 2023, 9am-5pm (2737 77th Ave Se Suite 101 Mercer Island, WA 98040) - ADNP Syndrome, Oct 30th-Nov 1st 2023 (Los Angeles, CA) - SYNGAP1 Research Fund, Dec 1st-3rd 2023 (8978 International Drive Orlando, FL, 32819) —--- CONFERENCE Registration link: https://Syngap.Fund/Orlando Hotels ASAP: https://Syngap.Fund/2023hotel Shirts https://www.bonfire.com/srf-syngap1-conference-2023/ Volunteer with SRF! [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 111 of #Syngap10 - August 12, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

August 12, 2023

Adam’s Camp is amazing & so are compression vests #S10e110

Adam's Camp: Get on the mailing list! https://adamscamp.org/ Tony’s Slides! https://docs.google.com/presentation/d/1RVJekxVN6Bemx78Boy7FRbUrtHKAVE0bBzRBlIpyEeA/edit?usp=sharing Compression Clothing https://calmcare.com/ Come to the conference https://www.youtube.com/watch?v=to8SAwdzCmg — CONFERENCE Registration link: https://Syngap.Fund/Orlando Hotels ASAP: https://Syngap.Fund/2023hotel Shirts https://www.bonfire.com/srf-syngap1-conference-2023/ Volunteer with SRF! [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 110 of #Syngap10 - July 31, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

July 31, 2023

Adam’s Camp is amazing & so are compression vests #S10e110

Adam's Camp: Get on the mailing list! https://adamscamp.org/ Tony’s Slides! https://docs.google.com/presentation/d/1RVJekxVN6Bemx78Boy7FRbUrtHKAVE0bBzRBlIpyEeA/edit?usp=sharing Compression Clothing https://calmcare.com/ Come to the conference https://www.youtube.com/watch?v=to8SAwdzCmg — CONFERENCE Registration link: https://Syngap.Fund/Orlando Hotels ASAP: https://Syngap.Fund/2023hotel Shirts https://www.bonfire.com/srf-syngap1-conference-2023/ Volunteer with SRF! [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 110 of #Syngap10 - July 31, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

July 31, 2023

FAQs for SRF’s SYNGAP1 Conference 2023 ⁠#SYNGAP1⁠⁠ #SRFconference⁠⁠ #Orlando⁠ #S10e109

Guest Hosts: Ashley Frye & Lauren Perry THE BASICS Who: Everyone! Families (including extended), caregivers, scientists, industry reps. What: SRF’s 2nd Annual SYNGAP1 Conference. - Registration link: Syngap.Fund/2023ConfReg Where: Orlando, FLORIDA! Embassy Suites by Hilton Orlando International Drive Convention Center. - Room block: https://Syngap.Fund/2023hotel When: Thursday, November 30th and Friday, December 1st, 2023. *Sea World outing is the Saturday following the conference. More to come on that. Why: Once in a year opportunity to be in the same room with multiple Syngap families from not only around the US but around the world! T-SHIRTS: https://www.bonfire.com/srf-syngap1-conference-2023/ — Volunteer with SRF! [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 109 of #Syngap10 - July 20, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

July 20, 2023

FAQs for SRF’s SYNGAP1 Conference 2023 #SYNGAP1 #SRFconference #Orlando #S10e109

Guest Hosts: Ashley Frye & Lauren Perry THE BASICS Who: Everyone! Families (including extended), caregivers, scientists, industry reps. What: SRF’s 2nd Annual SYNGAP1 Conference. - Registration link: Syngap.Fund/2023ConfReg Where: Orlando, FLORIDA! Embassy Suites by Hilton Orlando International Drive Convention Center. - Room block: https://Syngap.Fund/2023hotel When: Thursday, November 30th and Friday, December 1st, 2023. *Sea World outing is the Saturday following the conference. More to come on that. Why: Once in a year opportunity to be in the same room with multiple Syngap families from not only around the US but around the world! T-SHIRTS: https://www.bonfire.com/srf-syngap1-conference-2023/ — Volunteer with SRF! [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 109 of #Syngap10 - July 20, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

July 20, 2023

Happy Birthday SRF! Five years of making the future better! #FasterCures #UCLA #EEG #S10e108

Happy 5th Birthday SRF! https://mailchi.mp/syngapresearchfund.org/happy-5th-birthday-srf FASTERCURES See #S10e98 https://www.youtube.com/watch?v=iOLjUdVUtqo https://milkeninstitute.org/centers/fastercures/building-nonprofit-capacity/train Census https://Syngap.fund/census - 1,238 CHOP McKee Grant via AES https://twitter.com/jillianlmckee/status/1674037974684647424?s=46&t=8Y3-Ue9XY-QOTy42vH52Fw NHS Blog - https://www.syngapresearchfund.org/post/natural-history-study-at-childrens-hospital-of-philadelphia-is-a-natural-win-for-srf What to expect - https://www.syngapresearchfund.org/post/what-to-expect-when-youre-preparing-to-visit-the-syngap1-natural-history-study Their reflections: http://epilepsygenetics.net/2023/07/11/stxbp1-and-syngap1-natural-history-reflections-after-day-1-of-endd-clinic/ STUDIES See #S10e107 for four opportunities, https://www.youtube.com/watch?v=boHYLi3S-Mk But also: UCLA - EEG - West Coast! Missense, let’s make cell lines… watch this: https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations/ PODCASTS Brain and Life 1 and 2 https://www.brainandlife.org/articles/after-their-children-were-diagnosed-with Part 1 - English - https://www.brainandlife.org/podcast/community-stories-navigating-rare-epilepsy-diagnosis Part 2 - Spanish - https://www.brainandlife.org/podcast/comunidad-sobre-como-afrontar-diagnostico-epilepsia-genetica Podcasts - Syngap1 Stories - Ashley Evans (11) and Monica Harding (12) Ashley - https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-011 Monica - https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-012 CONFERENCE Pre-registration link: https://Syngap.Fund/2023conf Hotels ASAP: https://Syngap.Fund/2023hotel Merch https://www.bonfire.com/srf-syngap1-conference-2023/ All this was in today’s newsletter! https://Syngap.Fund/News33 Ed is doing a great job with these, thank you Ed! Volunteer with SRF! [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 108 of #Syngap10 - July 13, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

July 14, 2023

Happy Birthday SRF! Five years of making the future better! #FasterCures #UCLA #EEG #S10e108

Happy 5th Birthday SRF! https://mailchi.mp/syngapresearchfund.org/happy-5th-birthday-srf FASTERCURES See #S10e98 https://www.youtube.com/watch?v=iOLjUdVUtqo https://milkeninstitute.org/centers/fastercures/building-nonprofit-capacity/train Census https://Syngap.fund/census - 1,238 CHOP McKee Grant via AES https://twitter.com/jillianlmckee/status/1674037974684647424?s=46&t=8Y3-Ue9XY-QOTy42vH52Fw NHS Blog - https://www.syngapresearchfund.org/post/natural-history-study-at-childrens-hospital-of-philadelphia-is-a-natural-win-for-srf What to expect - https://www.syngapresearchfund.org/post/what-to-expect-when-youre-preparing-to-visit-the-syngap1-natural-history-study Their reflections: http://epilepsygenetics.net/2023/07/11/stxbp1-and-syngap1-natural-history-reflections-after-day-1-of-endd-clinic/ STUDIES See #S10e107 for four opportunities, https://www.youtube.com/watch?v=boHYLi3S-Mk But also: UCLA - EEG - West Coast! Missense, let’s make cell lines… watch this: https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations/ PODCASTS Brain and Life 1 and 2 https://www.brainandlife.org/articles/after-their-children-were-diagnosed-with Part 1 - English - https://www.brainandlife.org/podcast/community-stories-navigating-rare-epilepsy-diagnosis Part 2 - Spanish - https://www.brainandlife.org/podcast/comunidad-sobre-como-afrontar-diagnostico-epilepsia-genetica Podcasts - Syngap1 Stories - Ashley Evans (11) and Monica Harding (12) Ashley - https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-011 Monica - https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-012 CONFERENCE Pre-registration link: https://Syngap.Fund/2023conf Hotels ASAP: https://Syngap.Fund/2023hotel Merch https://www.bonfire.com/srf-syngap1-conference-2023/ All this was in today’s newsletter! https://Syngap.Fund/News33 Ed is doing a great job with these, thank you Ed! Volunteer with SRF! [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 108 of #Syngap10 - July 13, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

July 14, 2023

Inspiring Events, Family Video & Important Studies. *Note the CINEMAS TRIAL for Epidiolex – #S10e107

Inspiring Events, Family Video & Important Studies. *Note the CINEMAS TRIAL for Epidiolex - #S10e107 RECENT EVENTS MDBR Blog https://www.syngapresearchfund.org/post/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration Paddle Slap video https://www.youtube.com/watch?v=F9SaHPzd5bU Paddle Slap blog https://www.syngapresearchfund.org/post/syngap-paddle-slap-is-a-thing Family Video and Fundraiser: Shaeffer Video https://www.youtube.com/watch?v=Z_dI059yPeM Shaeffer Fundraiser https://secure.givelively.org/donate/syngap-research-fund-incorporated/support-srf-for-story-s-19th-birthday SRF in the World: SRF in Mexico - Our Voice is Getting Louder blog Syngap.Fund/Voice SRF in Poland - https://twitter.com/beatasyngap1/status/1664996361585197057?s=20 STUDIES ENDD S1 NHS - Email [email protected] to sign up and please cc [email protected], [email protected] & [email protected] - https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view# CHOP NHS ENDD Blog: https://Syngap.Fund/CHOPNHS CORNELL English https://redcap.link/syngapcaregiversurvey Spanish https://redcap.ctsc.weill.cornell.edu/redcap_protocols/surveys/?s=MWTW743PHENPPRPY COMBINEDBrain Biorepository https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1 STXBP1 Foundation, (July 21st-23rd 2023; 10600 Westminster Blvd, Westminster, CO 80020) Yellow Brick Road Project, (July 30th-August 2nd (Ponte Vedra Lodge & Club, 607 Ponte Vedra Blvd, Ponte Vedra Beach, FL, 32082) CINEMAS STUDY - Mild Intellectual Delay https://cinemasstudy.com/#right_for_me PRESS Axios Fruit Flies article https://www.axios.com/local/salt-lake-city/2023/06/09/fruit-fly-medical-research-university-utah FUTURE EVENTS June 21 - Splash for Syngap https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap August 26 - Syngap Soiree https://e.givesmart.com/events/wiH October 7 - Scramble for Syngap https://secure.givelively.org/event/syngap-research-fund-incorporated/scramble-for-syngap-2023 October 21 - SynGAP Research Fund Gala Honoring Caren Leib - https://e.givesmart.com/events/wBy/ October 30-31 - Epilepsy Awareness Day at Disneyland https://epilepsyawarenessday.org/lobby-page/ Nov 30-Dec 1 - SYNGAP1 Conference 2023 hosted by SynGAP Research Fund https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund Conference pre-registration link: Syngap.Fund/2023conf Book hotels ASAP: https://Syngap.Fund/2023hotel T-shirts https://www.bonfire.com/srf-syngap1-conference-2023/ WEBINARS Upcoming: June 15 - Quantifying perturbed SYNGAP1 Function Caused by Coding Mutations - Dr. Michael Courtney from Turku in Finland https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations - Previous: Therapeutic Strategies for Autism: Targeting Three Levels of the Central Dogma of Molecular Biology - Presented to the SYNGAP1 Community - Lilia Iakoucheva & Derek Hong https://www.syngapresearchfund.org/webinars/78-therapeutic-strategies-for-autism-targeting[…]tral-dogma-of-molecular-biology-with-a-focus-on-syngap1 PODCAST - Syngap Stories, interviews, see #10 with Dani Williams https://www.syngapresearchfund.org/podcast-episodes/episode-010 Volunteer with SRF! [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 107 of #Syngap10 - June 14, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

June 14, 2023

Inspiring Events, Family Video & Important Studies. *Note the CINEMAS TRIAL for Epidiolex – #S10e107

Inspiring Events, Family Video & Important Studies. *Note the CINEMAS TRIAL for Epidiolex - #S10e107 RECENT EVENTS MDBR Blog https://www.syngapresearchfund.org/post/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration Paddle Slap video https://www.youtube.com/watch?v=F9SaHPzd5bU Paddle Slap blog https://www.syngapresearchfund.org/post/syngap-paddle-slap-is-a-thing Family Video and Fundraiser: Shaeffer Video https://www.youtube.com/watch?v=Z_dI059yPeM Shaeffer Fundraiser https://secure.givelively.org/donate/syngap-research-fund-incorporated/support-srf-for-story-s-19th-birthday SRF in the World: SRF in Mexico - Our Voice is Getting Louder blog Syngap.Fund/Voice SRF in Poland - https://twitter.com/beatasyngap1/status/1664996361585197057?s=20 STUDIES ENDD S1 NHS - Email [email protected] to sign up and please cc [email protected], [email protected] & [email protected] - https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view# CHOP NHS ENDD Blog: https://Syngap.Fund/CHOPNHS CORNELL English https://redcap.link/syngapcaregiversurvey Spanish https://redcap.ctsc.weill.cornell.edu/redcap_protocols/surveys/?s=MWTW743PHENPPRPY COMBINEDBrain Biorepository https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1 STXBP1 Foundation, (July 21st-23rd 2023; 10600 Westminster Blvd, Westminster, CO 80020) Yellow Brick Road Project, (July 30th-August 2nd (Ponte Vedra Lodge & Club, 607 Ponte Vedra Blvd, Ponte Vedra Beach, FL, 32082) CINEMAS STUDY - Mild Intellectual Delay https://cinemasstudy.com/#right_for_me PRESS Axios Fruit Flies article https://www.axios.com/local/salt-lake-city/2023/06/09/fruit-fly-medical-research-university-utah FUTURE EVENTS June 21 - Splash for Syngap https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap August 26 - Syngap Soiree https://e.givesmart.com/events/wiH October 7 - Scramble for Syngap https://secure.givelively.org/event/syngap-research-fund-incorporated/scramble-for-syngap-2023 October 21 - SynGAP Research Fund Gala Honoring Caren Leib - https://e.givesmart.com/events/wBy/ October 30-31 - Epilepsy Awareness Day at Disneyland https://epilepsyawarenessday.org/lobby-page/ Nov 30-Dec 1 - SYNGAP1 Conference 2023 hosted by SynGAP Research Fund https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund Conference pre-registration link: Syngap.Fund/2023conf Book hotels ASAP: https://Syngap.Fund/2023hotel T-shirts https://www.bonfire.com/srf-syngap1-conference-2023/ WEBINARS Upcoming: June 15 - Quantifying perturbed SYNGAP1 Function Caused by Coding Mutations - Dr. Michael Courtney from Turku in Finland https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations - Previous: Therapeutic Strategies for Autism: Targeting Three Levels of the Central Dogma of Molecular Biology - Presented to the SYNGAP1 Community - Lilia Iakoucheva & Derek Hong https://www.syngapresearchfund.org/webinars/78-therapeutic-strategies-for-autism-targeting[…]tral-dogma-of-molecular-biology-with-a-focus-on-syngap1 PODCAST - Syngap Stories, interviews, see #10 with Dani Williams https://www.syngapresearchfund.org/podcast-episodes/episode-010 Volunteer with SRF! [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 107 of #Syngap10 - June 14, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

June 14, 2023

THREE studies to join, animal models to celebrate, webinars to watch, TWO articles (Memphis & Chicago), blogs en espanol & pods to listen to, SO MANY EVENTS TO COME TO, also SRF in Mexico!

Blane & Ashley Dallen & Melissa Oakley in Canada just raised over $10k together with two events. SynGAP Paddle Slap Stats: They had 12 teams play in the tournament. About 120 people joined the crawfish boil. Actual $ breakdown: Total Actual Income $23,250.00. Article https://www.localmemphis.com/article/life/family/rare-disease-research-promoted-integra[…]1-austim-epilepsy/522-b805046b-d05e-4f17-a8ab-69421293f926 Minnie's article in the Chicago Tribune. (behind firewall) https://www.chicagotribune.com/people/health/ct-hayden-cheng-syngap-diagnosis-0525-20230527-zacxfmtrhbd4bm5gbc3su5hsr4-story.html Vicky & Paulina in Chihuahua, Mexico at Sociedad Mexicana de Neurología Pediátrica's annual conference https://twitter.com/cureSYNGAP1/status/1659250923611496449 Two blogs en Español https://www.syngapresearchfund.org/post/vacacionar-con-un-syngap1-147 https://www.syngapresearchfund.org/post/notas-de-terliz-mama-syngap1-145 STUDIES ENDD S1 NHS - Email [email protected] to sign up and please cc [email protected], [email protected] & [email protected] https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view# Watch #S10e105 https://www.youtube.com/watch?v=qy5YrPIlH0I Cornell study English https://redcap.link/syngapcaregiversurvey Spanish https://redcap.ctsc.weill.cornell.edu/redcap_protocols/surveys/?s=MWTW743PHENPPRPY COMBINEDBrain Biorepository - https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1 SCIENCE 1st Syngap Patient Derived Models from SRF grant to Dr. Araki & Dr. Huganir https://www.biorxiv.org/content/10.1101/2023.05.25.542312v2 "Eye of the Fly" Chow article - https://www.ksl.com/article/50638506/eye-of-the-fly-how-fruit-flies-could-help-find-treatment-for-a-rare-genetic-disease EVENTS June 10 - MDBR https://charity.pledgeit.org/t/Optdm6sOX9 June 21 - Splash for Syngap https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap August 26 - Syngap Soiree https://e.givesmart.com/events/wiH October 7 - Scramble for Syngap https://secure.givelively.org/event/syngap-research-fund-incorporated/scramble-for-syngap-2023 October 21 - SynGAP Research Fund Gala Honoring Caren Leib - https://e.givesmart.com/events/wBy/ CONFERENCE Nov 30-Dec 1 - SYNGAP1 Conference 2023 hosted by SRF https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund Conference pre-registration link: https://Syngap.Fund/2023conf Book hotels ASAP: https://Syngap.Fund/2023hotel Tshirts: https://www.bonfire.com/srf-syngap1-conference-2023/ WEBINARS June 8 - Therapeutic strategies for autism: Targeting Three levels of the central dogma of molecular biology - Dr. Lilia Iakoucheva & Mr. Derek Hong https://www.syngapresearchfund.org/webinars/78-therapeutic-strategies-for-autism-targeting[…]tral-dogma-of-molecular-biology-with-a-focus-on-syngap1 June 15 - Quantifying perturbed SYNGAP1 Function Caused by Coding Mutations - Dr. Michael Courtney from Turku in Finland https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations PODS - Syngap Stories, interviews, see #8 with Heather Bensch https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-008 - Syngap Stories, interviews, see #9 with Lauren Perry https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-009 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 106 of #Syngap10 - June 6, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

June 6, 2023

THREE studies to join, animal models to celebrate, webinars to watch, TWO articles (Memphis & Chicago), blogs en español & pods to listen to, SO MANY EVENTS TO COME TO, also SRF in Mexico!

Blane & Ashley Dallen & Melissa Oakley in Canada just raised over $10k together with two events. SynGAP Paddle Slap *this woman knows how to run a successful fundraising event with very low overhead! Stats: They had 12 teams play in the tournament. About 120 people joined the crawfish boil. Actual $ breakdown: Total Actual Income $23,250.00. Article https://www.localmemphis.com/article/life/family/rare-disease-research-promoted-integra[…]1-austim-epilepsy/522-b805046b-d05e-4f17-a8ab-69421293f926 Minnie's article in the Chicago Tribune. (behind firewall) https://www.chicagotribune.com/people/health/ct-hayden-cheng-syngap-diagnosis-0525-20230527-zacxfmtrhbd4bm5gbc3su5hsr4-story.html Vicky & Paulina in Chihuahua, Mexico at Sociedad Mexicana de Neurología Pediátrica's annual conference https://twitter.com/cureSYNGAP1/status/1659250923611496449 Two blogs en Español https://www.syngapresearchfund.org/post/vacacionar-con-un-syngap1-147 https://www.syngapresearchfund.org/post/notas-de-terliz-mama-syngap1-145 STUDIES ENDD S1 NHS - Email [email protected] to sign up and please cc [email protected], [email protected] & [email protected] https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view# Watch #S10e105 https://www.youtube.com/watch?v=qy5YrPIlH0I Cornell study English https://redcap.link/syngapcaregiversurvey Spanish https://redcap.ctsc.weill.cornell.edu/redcap_protocols/surveys/?s=MWTW743PHENPPRPY COMBINEDBrain Biorepository - https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1 SCIENCE 1st Syngap Patient Derived Models from SRF grant to Dr. Araki & Dr. Huganir https://www.biorxiv.org/content/10.1101/2023.05.25.542312v2 "Eye of the Fly" Chow article - https://www.ksl.com/article/50638506/eye-of-the-fly-how-fruit-flies-could-help-find-treatment-for-a-rare-genetic-disease EVENTS June 10 - MDBR https://charity.pledgeit.org/t/Optdm6sOX9 June 21 - Splash for Syngap https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap August 26 - Syngap Soiree https://e.givesmart.com/events/wiH October 7 - Scramble for Syngap https://secure.givelively.org/event/syngap-research-fund-incorporated/scramble-for-syngap-2023 October 21 - SynGAP Research Fund Gala Honoring Caren Leib - https://e.givesmart.com/events/wBy/ CONFERENCE Nov 30-Dec 1 - SYNGAP1 Conference 2023 hosted by SynGAP Research Fund https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund Conference pre-registration link: https://Syngap.Fund/2023conf Book hotels ASAP: https://Syngap.Fund/2023hotel Tshirts: https://www.bonfire.com/srf-syngap1-conference-2023/ WEBINARS June 8 - Therapeutic strategies for autism: Targeting Three levels of the central dogma of molecular biology - Dr. Lilia Iakoucheva & Mr. Derek Hong https://www.syngapresearchfund.org/webinars/78-therapeutic-strategies-for-autism-targeting[…]tral-dogma-of-molecular-biology-with-a-focus-on-syngap1 June 15 - Quantifying perturbed SYNGAP1 Function Caused by Coding Mutations - Dr. Michael Courtney from Turku in Finland https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations Recently - Dr. Baptiste Lacoste - Involvement of the brain endothelium in neurodevelopmental disorders https://www.syngapresearchfund.org/webinars/76-involvement-of-the-brain-endothelium-in-neurodevelopmental-disorders-syngap1 PODS - Syngap Stories, interviews, see #8 with Heather Bensch https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-008 - Syngap Stories, interviews, see #9 with Lauren Perry https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-009 Volunteer with SRF! [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-pod

June 6, 2023

This is the ENDD of excuses. Sign up for the CHOP ENDD Study – #S10e105

Email [email protected] to sign up, please cc [email protected] Email [email protected] to sign up, please cc [email protected] Email [email protected] to sign up, please cc [email protected] Email [email protected] to sign up, please cc [email protected] Email [email protected] to sign up, please cc [email protected] This is the ENDD of excuses. Sign up for the CHOP ENDD Study. There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 105 of #Syngap10 - May 19, 2023 #biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

May 19, 2023

This is the ENDD of excuses. Sign up for the CHOP ENDD Study – #S10e105

Email [email protected] to sign up, please cc [email protected] Email [email protected] to sign up, please cc [email protected] Email [email protected] to sign up, please cc [email protected] Email [email protected] to sign up, please cc [email protected] Email [email protected] to sign up, please cc [email protected] This is the ENDD of excuses. Sign up for the CHOP ENDD Study. There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 105 of #Syngap10 - May 19, 2023 #biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

May 19, 2023

Connection for Science – #S10e104

Long trip, but first… Last Episode (#S10e103 https://www.youtube.com/watch?v=Tpz-8Uf6qcU) special thanks to Lauren Perry for doing this and for the detailed review. We missed on fabulous family also had an event$243,794 of $250,000, 849 Donors <- https://syngap.fund/sprint23 Phoebe was just diagnosed this year, so it was our first year participating in Sprint4Syngap. We had over 75 family, friends, neighbors, and supporters attend our event in DC. Stoke - Earnings and steady progress. “This morning we reported Q1 financial results and provided a few business updates. Stoke is on-track to report new data from the ongoing Phase 1/2a clinical studies of STK-001 in children and adolescents with Dravet syndrome in mid-2023. The data readout will focus on safety and seizure frequency results for up to 16 patients who received three doses of 45mg of STK-001 and there are plans to initiate a pivotal study in 2024, pending this additional data. Also, as we recently shared, Stoke received authorization to initiate a Phase 1/2 study in the UK of STK-002, an investigational new treatment for Autosomal Dominant Optic Atrophy (ADOA).” Deck: https://investor.stoketherapeutics.com/static-files/40ff9e8c-9554-4164-911e-4438676d9001 $ 254.2M as of 3/31/23 (because of Acadia deal) Webinars - https://syngap.fund/webinar - McKee is up and a must watch - such tremendous data (Sign up for ciitizen, https://ciitizen.com/syngap1) - Smith 5/11 - Catatonia in Neurodevelopmental Conditions https://syngap.fund/smith - Lacoste 5/18 - Involvement of the brain endothelium in neurodevelopmental disorders https://syngap.fund/lacoste Podcasts - Syngap Stories, interviews, see #7 with Peter Halliburton https://www.syngapresearchfund.org/syngap-stories - OUAG with Janie Reade #184 https://effieparks.com/podcast/episode-184-more-of-everything #BrainDonationAwarenssDay - https://www.syngapresearchfund.org/post/syngap-research-fund-srf-partners-with-autism-brainnet - https://www.syngapresearchfund.org/webinars/an-introduction-to-autism-brainnet - https://twitter.com/cureSYNGAP1/status/1655180930644951041 Red-eye! Congrats to Chow Lab for SYNGAP1 Press - https://www.ksl.com/article/50638506/eye-of-the-fly-how-fruit-flies-could-help-find-treatment-for-a-rare-genetic-disease- Paper Alert! #ASO - Prosser on ASO - https://threadreaderapp.com/thread/1655611277232967681.html Big trip - Boot Camp - https://twitter.com/JMGraglia/status/1652026502899445760 - CHOP - More in Next Episode (#S10e105) Sydney & Yulia https://twitter.com/JMGraglia/status/1653479046905249820 - RDDS - GG with Yulia - https://twitter.com/GlobalGenes/status/1653415768317370373 - St. Jude with Kevin - https://twitter.com/JMGraglia/status/1654560540541288448 RIP Marie - https://www.facebook.com/mike.graglia/posts/pfbid02iuj7TmQ5P8EedhSBtqtC8wcxrzBp2RyEYPb3nzeLW6jXgmvFFSEpNXSbmChTJBzCl #MDBRSRF - 32 days - June 10, 2023 syngap.fund/mdbr23 #SyngapConf - 205 days - book now, November 30, 2023 - Conf pre-registration link: Syngap.Fund/2023conf - Book hotels ASAP: https://syngap.fund/2023hotel Remember the Biorepository Roadshow - https://syngap.fund/roadshow List of biorepository collection opportunities, watch this webinar for more information see https://syngap.fund/TJB - DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD) ....... - SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL) There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 104 of #Syngap10 - May 9, 2023 #biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

May 10, 2023

Connection for Science – #S10e104

Long trip, but first… Last Episode (#S10e103 https://www.youtube.com/watch?v=Tpz-8Uf6qcU) special thanks to Lauren Perry for doing this and for the detailed review. We missed on fabulous family also had an event$243,794 of $250,000, 849 Donors

May 10, 2023

All About #Sprint4Syngap 2023! #S10e103

Grand Total: $241,359 – Incredible! Congratulations to all the teams. In-Person Events: Team Tavilla raised $162,464…and counting Hope for Hadley raised $10,059… and counting Team Syngap America Latina raised over $2,000 Canada - Team Mya raised over $2800 & Team Chase raised over $2300 Team Andrew raised over $3,200 Team Emma Mae raised over $3,000 Team Kai raised over $2,600 Team Gracyn raised $1,864 Team Naya raised $1,795 Team Patrick raised $1,240 Kilometers4Kai raised $952 March4McKaela raised $550 Online Fundraisers: Phoebe’s fight’s total is $32,269 Team Rocco 10,698 Team Fallyn total 1402 Team Saydee total 1123 Sprinting for Laila up in Canada raised $1029 Misko’s family in the Czech Republic is at $850 Team Teddy raised $600 Hope for Reef raised $553 Team Lizzy at $100 Rifton Giveaway Congrats to Andrew who won the customize Rifton bike! Sprint4Syngap 2024 Saturday, April 27 There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 103 of #Syngap10 - May 3, 2023 #Sprint4Syngap #fundraising #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

May 4, 2023

All About #Sprint4Syngap 2023! #S10e103

Grand Total: $241,359 – Incredible! Congratulations to all the teams. In-Person Events: Team Tavilla raised $162,464…and counting Hope for Hadley raised $10,059… and counting Team Syngap America Latina raised over $2,000 Canada - Team Mya raised over $2800 & Team Chase raised over $2300 Team Andrew raised over $3,200 Team Emma Mae raised over $3,000 Team Kai raised over $2,600 Team Gracyn raised $1,864 Team Naya raised $1,795 Team Patrick raised $1,240 Kilometers4Kai raised $952 March4McKaela raised $550 Online Fundraisers: Phoebe’s fight’s total is $32,269 Team Rocco 10,698 Team Fallyn total 1402 Team Saydee total 1123 Sprinting for Laila up in Canada raised $1029 Misko’s family in the Czech Republic is at $850 Team Teddy raised $600 Hope for Reef raised $553 Team Lizzy at $100 Rifton Giveaway Congrats to Andrew who won the customize Rifton bike! Sprint4Syngap 2024 Saturday, April 27 There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 103 of #Syngap10 - May 3, 2023 #Sprint4Syngap #fundraising #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

May 4, 2023

McKee Data Webinar on Thursday! #SPRINT4SYNGAP in 4 days! The Emergency Plan, DSF Caregiver Connect, PGx, Cool Paper, Biorepository Collection! #S10e102 #DNAday

Webinars McKEE 4/27 https://syngap.fund/mckee - Ciitizen SYNGAP1 count is over 212 - Sign-UP https://ciitizen.com/syngap1 - Sign-IN & Update https://app.ciitizen.com/ SMITH 5/11 https://syngap.fund/smith LACOSTE 5/18 https://syngap.fund/lacoste #Sprint4Syngap - 4 days, April 29, 2023 - $210k, 652 donors. - https://syngap.fund/sprint - Fundraising page: https://syngap.fund/sprint23 What’s your neuro emergency plan?https://twitter.com/cureSYNGAP1/status/1646170843503034368 Caregiver Connect from DSF Video modules are broken down into four important topics: Taking Care of the Caregiver; Caregiver Burnout; Communicating Emotions, Needs & Concerns; and Managing Grief. Each module offers multiple videos that you can watch on demand, as your schedule allows, as well as a coordinating tip sheet. If this resource would be useful to you or your community, you can find it at: - https://dravetfoundation.org/caregiver-resources/caregiver-connect/ - aka https://syngap.fund/dsfcc Rare News Updates PGx, just do it. https://www.nature.com/articles/s41397-020-00181-w Invitae Killer paper overview on therapy types https://www.spectrumnews.org/opinion/q-and-a/the-future-of-autism-therapies-a-conversation-with-lilia-iakoucheva-and-derek-hong/ https://www.nature.com/articles/s41398-023-02356-y #MDBRSRF - 46 days - June 10, 2023 syngap.fund/mdbr23 #SyngapConf - 219 days - book now, November 30, 2023 - Conf pre-registration link: Syngap.Fund/2023conf - Book hotels ASAP: https://syngap.fund/2023hotel Remember the Biorepository Roadshow - https://syngap.fund/roadshow List of biorepository collection opportunities, watch this webinar for more information see https://syngap.fund/TJB - MED13L Foundation on April 30th, 2023 (Philadelphia, PA) - DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD) - KDVS Foundation, July 19th-21st 2023 (Orlando, FL) - STXBP1 Foundation, July 21st-23rd 2023 (Westminster, CO) - Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL) - (Potential) DUP15/Angelman, July 27th-29th 2023 (Nashville, TN) - (Potential) KAND, August 3rd-6th 2023 (Queens, NY) - (Potential) Global Genes, Sept 19th-20th 2023 (San Diego, CA) - IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH) - USP7/Prader Willi, Oct 5th-7th 2023 (Denver, CO) - TBRS Foundation, Oct 12th-14th 2023 (San Antonio, TX) - COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC) - ADNP Kids Research Foundation, Oct 30th-Nov 1st (Los Angeles, CA) - (Potential) Angelman Foundation, November 2023 (Orlando, FL) - SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL) There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 102 of #Syngap10 - April 25, 2023 #DNAday #biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

April 26, 2023

McKee Data Webinar on Thursday! #SPRINT4SYNGAP in 4 days! The Emergency Plan, DSF Caregiver Connect, PGx, Cool Paper, Biorepository Collection! #S10e102 #DNAday

Webinars McKEE 4/27 https://syngap.fund/mckee - Ciitizen SYNGAP1 count is over 212 - Sign-UP https://ciitizen.com/syngap1 - Sign-IN & Update https://app.ciitizen.com/ SMITH 5/11 https://syngap.fund/smith LACOSTE 5/18 https://syngap.fund/lacoste #Sprint4Syngap - 4 days, April 29, 2023 - $210k, 652 donors. - https://syngap.fund/sprint - Fundraising page: https://syngap.fund/sprint23 What’s your neuro emergency plan?https://twitter.com/cureSYNGAP1/status/1646170843503034368 Caregiver Connect from DSF Video modules are broken down into four important topics: Taking Care of the Caregiver; Caregiver Burnout; Communicating Emotions, Needs & Concerns; and Managing Grief. Each module offers multiple videos that you can watch on demand, as your schedule allows, as well as a coordinating tip sheet. If this resource would be useful to you or your community, you can find it at: - https://dravetfoundation.org/caregiver-resources/caregiver-connect/ - aka https://syngap.fund/dsfcc Rare News Updates PGx, just do it. https://www.nature.com/articles/s41397-020-00181-w Invitae Killer paper overview on therapy typeshttps://www.spectrumnews.org/opinion/q-and-a/the-future-of-autism-therapies-a-conversation-with-lilia-iakoucheva-and-derek-hong/ https://www.nature.com/articles/s41398-023-02356-y #MDBRSRF - 46 days - June 10, 2023 syngap.fund/mdbr23 #SyngapConf - 219 days - book now, November 30, 2023 - Conf pre-registration link: Syngap.Fund/2023conf - Book hotels ASAP: https://syngap.fund/2023hotel Remember the Biorepository Roadshow - https://syngap.fund/roadshow List of biorepository collection opportunities, watch this webinar for more information see https://syngap.fund/TJB - MED13L Foundation on April 30th, 2023 (Philadelphia, PA) - DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD) - KDVS Foundation, July 19th-21st 2023 (Orlando, FL) - STXBP1 Foundation, July 21st-23rd 2023 (Westminster, CO) - Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL) - (Potential) DUP15/Angelman, July 27th-29th 2023 (Nashville, TN) - (Potential) KAND, August 3rd-6th 2023 (Queens, NY) - (Potential) Global Genes, Sept 19th-20th 2023 (San Diego, CA) - IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH) - USP7/Prader Willi, Oct 5th-7th 2023 (Denver, CO) - TBRS Foundation, Oct 12th-14th 2023 (San Antonio, TX) - COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC) - ADNP Kids Research Foundation, Oct 30th-Nov 1st (Los Angeles, CA) - (Potential) Angelman Foundation, November 2023 (Orlando, FL) - SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL) There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 102 of #Syngap10 - April 25, 2023 #DNAday #biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

April 26, 2023

SRF Supported Publication on NET, Siblings, Webinars, Frog Video, Clinical Trial Questions… #S10e101

SRF Supported Publication on NET, Siblings, Webinars, Frog Video, Clinical Trial Questions… #S10e101 What’s your neuro emergency plan?https://twitter.com/cureSYNGAP1/status/1646170843503034368 Congrats to Dr. Frazier on the FIRST NET paper: https://twitter.com/cureSYNGAP1/status/1646573476353044481 Thanks to Kevin for going to Gatlinburg - Kevin https://twitter.com/cureSYNGAP1/status/1646530060227346433 - ORCA https://twitter.com/cureSYNGAP1/status/1646212570649604097Thanks to Brain & Life, part of AAN for this article "How Parents Advocate for Their Children with Rare Diseases” https://www.brainandlife.org/articles/after-their-children-were-diagnosed-with Sibling day John https://youtu.be/J5oBo9zcRUE LGS https://www.youtube.com/watch?v=kR1nWSEZPfY Webinars McKEE 4/27 https://syngap.fund/mckee SMITH 5/11 https://syngap.fund/smith Ciitizen SYNGAP1 count is over 2101 - Sign-UP https://ciitizen.com/syngap1 - Sign-IN & Update https://app.ciitizen.com/ Rare News Updates Hot off Presses, Stoke is talking about TANGO and mentions their SYNGAP1 work with Acadia https://knowablemagazine.org/article/health-disease/2023/hope-for-haploinsufficiency-diseases SCN2A Clinical Trial Site and Video, which is very good! - https://www.youtube.com/watch?v=z9SqMSO405I - https://scn2aclinicaltrials.com/ Frog update: See what Dr. Helen Willsey is doing here: https://youtu.be/Gp8sROAm5D8 #Sprint4Syngap - 14 days, April 29, 2023 - https://syngap.fund/sprint - Fundraising page: https://syngap.fund/sprint23 #MDBRSRF - 56 days - June 10, 2023 syngap.fund/mdbr23 #SyngapConf - 229 days - book now, November 30, 2023 - Conf pre-registration link: Syngap.Fund/2023conf - Book hotels ASAP: https://syngap.fund/2023hotel Remember the todos in #S10e100 - https://www.youtube.com/watch?v=CCjPkabkR1A - Education survey https://forms.gle/YZJZmJavMNKNEBg88 - Biorepository Roadshow - https://syngap.fund/roadshow List of biorepository collection opportunities, watch this webinar for more information see https://syngap.fund/TJB - MED13L Foundation on April 30th, 2023 (Philadelphia, PA) - DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD) - KDVS Foundation, July 19th-21st 2023 (Orlando, FL) - STXBP1 Foundation, July 21st-23rd 2023 (Westminster, CO) - Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL) - (Potential) DUP15/Angelman, July 27th-29th 2023 (Nashville, TN) - (Potential) KAND, August 3rd-6th 2023 (Queens, NY) - (Potential) Global Genes, Sept 19th-20th 2023 (San Diego, CA) - IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH) - USP7/Prader Willi, Oct 5th-7th 2023 (Denver, CO) - TBRS Foundation, Oct 12th-14th 2023 (San Antonio, TX) - COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC) - ADNP Kids Research Foundation, Oct 30th-Nov 1st (Los Angeles, CA) - (Potential) Angelman Foundation, November 2023 (Orlando, FL) - SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL) There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 101 of #Syngap10 - April 15, 2023 #frogs #biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

April 15, 2023

SRF Supported Publication on NET, Siblings, Webinars, Frog Video, Clinical Trial Questions… #S10e101

What’s your neuro emergency plan?https://twitter.com/cureSYNGAP1/status/1646170843503034368 Congrats to Dr. Frazier on the FIRST NET paper: https://twitter.com/cureSYNGAP1/status/1646573476353044481 Thanks to Kevin for going to Gatlinburg - Kevin https://twitter.com/cureSYNGAP1/status/1646530060227346433 - ORCA https://twitter.com/cureSYNGAP1/status/1646212570649604097 Thanks to Brain & Life, part of AAN for this article "How Parents Advocate for Their Children with Rare Diseases” https://www.brainandlife.org/articles/after-their-children-were-diagnosed-with Sibling day John https://youtu.be/J5oBo9zcRUE LGS https://www.youtube.com/watch?v=kR1nWSEZPfY Webinars McKEE 4/27 https://syngap.fund/mckee SMITH 5/11 https://syngap.fund/smith Ciitizen SYNGAP1 count is over 2101 - Sign-UP https://ciitizen.com/syngap1 - Sign-IN & Update https://app.ciitizen.com/ Rare News Updates 1. Hot off Presses, Stoke is talking about TANGO and mentions their SYNGAP1 work with Acadia https://knowablemagazine.org/article/health-disease/2023/hope-for-haploinsufficiency-diseases 2. SCN2A Clinical Trial Site and Video, which is very good! https://www.youtube.com/watch?v=z9SqMSO405I https://scn2aclinicaltrials.com/ 3. Frog update: See what Dr. Helen Willsey is doing here: https://youtu.be/Gp8sROAm5D8 #Sprint4Syngap - 14 days, April 29, 2023 - https://syngap.fund/sprint - Fundraising page: https://syngap.fund/sprint23 #MDBRSRF - 56 days - June 10, 2023 syngap.fund/mdbr23 #SyngapConf - 229 days - book now, November 30, 2023 - Conf pre-registration link: Syngap.Fund/2023conf - Book hotels ASAP: https://syngap.fund/2023hotel Remember the todos in #S10e100 - https://www.youtube.com/watch?v=CCjPkabkR1A - Education survey https://forms.gle/YZJZmJavMNKNEBg88 - Biorepository Roadshow - https://syngap.fund/roadshow List of biorepository collection opportunities, watch this webinar for more information see https://syngap.fund/TJB - MED13L Foundation on April 30th, 2023 (Philadelphia, PA) - DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD) - KDVS Foundation, July 19th-21st 2023 (Orlando, FL) - STXBP1 Foundation, July 21st-23rd 2023 (Westminster, CO) - Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL) - (Potential) DUP15/Angelman, July 27th-29th 2023 (Nashville, TN) - (Potential) KAND, August 3rd-6th 2023 (Queens, NY) - (Potential) Global Genes, Sept 19th-20th 2023 (San Diego, CA) - IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH) - USP7/Prader Willi, Oct 5th-7th 2023 (Denver, CO) - TBRS Foundation, Oct 12th-14th 2023 (San Antonio, TX) - COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC) - ADNP Kids Research Foundation, Oct 30th-Nov 1st (Los Angeles, CA) - (Potential) Angelman Foundation, November 2023 (Orlando, FL) - SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL) There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 101 of #Syngap10 - April 15, 2023 #frogs #biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

April 15, 2023

💯Episode 100! Survey, GI, Biorepository, Press, PG, ASO Training, Sprint3 in 3 weeks!!! #S10e100

How is the podcast doing? - Episode 1 - 93 in ciitizen, 750 patients, on our first Sprint… https://youtu.be/aGDEc8Uwy-k - Episode 100 - 212 in ciitizen, 1,215 patients, on our 3rd Sprint! What you can do this week? - Take the education survey https://forms.gle/YZJZmJavMNKNEBg88 and consider joining our advocacy group. - Tell me if you have any GI biopsies planned. - Plan your travel - Biorepository Roadshow - See end of shownotes or https://docs.google.com/presentation/d/1Ps3n6f62yQ9lMEsON-vbgvyOKiO8TohawZcUByxVg8g/edit?usp=sharing - Annual Conference - Preregister Syngap.Fund/2023conf Any great press? - Polancos on TV https://twitter.com/cureSYNGAP1/status/1643967039214850048 - Fosters in the KC Star https://twitter.com/cureSYNGAP1/status/1643357789966704643 - Axonis/Tang Grant https://twitter.com/cureSYNGAP1/status/1643602756375298048 Rare News Updates - ONCE UPON A GENE - EPISODE 181 - Helping Undiagnosed Patients Who Experience Symptoms of Rare Disease Lukas Lange is the CEO and Founder of Probably Genetic. https://twitter.com/OnceUponAGene/status/1644079452211798016 - Angelman Training for ASOs - https://twitter.com/cureSYNGAP1/status/1643768256468238336 #Sprint4Syngap - 21 days, April 29, 2023 - https://www.syngapresearchfund.org/families/sprint4syngap-syngap-research-fund - Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 #MDBRSRF - 63 days - June 10, 2023 syngap.fund/mdbr23 #SyngapConf - 236 days - book now, November 30, 2023 - Conf pre-registration link: Syngap.Fund/2023conf - We have signed with a hotel/venue, please stay tuned for room link - Large Latin Contingent too, just another this morning. List of biorepository collection opportunities, watch this webinar for more information https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1 - MED13L Foundation on April 30th, 2023 (Philadelphia, PA) - DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD) - KDVS Foundation, July 19th-21st 2023 (Orlando, FL) - STXBP1 Foundation, July 21st-23rd 2023 (Westminster, CO) - Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL) - (Potential) DUP15/Angelman, July 27th-29th 2023 (Nashville, TN) - (Potential) KAND, August 3rd-6th 2023 (Queens, NY) - (Potential) Global Genes, Sept 19th-20th 2023 (San Diego, CA) - IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH) - USP7/Prader Willi, Oct 5th-7th 2023 (Denver, CO) - TBRS Foundation, Oct 12th-14th 2023 (San Antonio, TX) - COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC) - ADNP Kids Research Foundation, Oct 30th-Nov 1st (Los Angeles, CA) - (Potential) Angelman Foundation, November 2023 (Orlando, FL) - SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL) - SLC6A1 Connect, Dec 1st-3rd 2023 (Orlando, FL) There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 100 of #Syngap10 - April 8, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

April 9, 2023

💯Episode 100! Survey, GI, Biorepository, Press, PG, ASO Training, Sprint3 in 3 weeks!!! #S10e100

How is the podcast doing? - Episode 1 - 93 in ciitizen, 750 patients, on our first Sprint… https://youtu.be/aGDEc8Uwy-k - Episode 100 - 212 in ciitizen, 1,215 patients, on our 3rd Sprint! What you can do this week? - Take the education survey https://forms.gle/YZJZmJavMNKNEBg88 and consider joining our advocacy group. - Tell me if you have any GI biopsies planned. - Plan your travel - Biorepository Roadshow - See end of shownotes or https://docs.google.com/presentation/d/1Ps3n6f62yQ9lMEsON-vbgvyOKiO8TohawZcUByxVg8g/edit?usp=sharing - Annual Conference - Preregister Syngap.Fund/2023conf Any great press? - Polancos on TV https://twitter.com/cureSYNGAP1/status/1643967039214850048 - Fosters in the KC Star https://twitter.com/cureSYNGAP1/status/1643357789966704643 - Axonis/Tang Grant https://twitter.com/cureSYNGAP1/status/1643602756375298048 Rare News Updates - ONCE UPON A GENE - EPISODE 181 - Helping Undiagnosed Patients Who Experience Symptoms of Rare Disease Lukas Lange is the CEO and Founder of Probably Genetic. https://twitter.com/OnceUponAGene/status/1644079452211798016 - Angelman Training for ASOs - https://twitter.com/cureSYNGAP1/status/1643768256468238336 #Sprint4Syngap - 21 days, April 29, 2023 - https://www.syngapresearchfund.org/families/sprint4syngap-syngap-research-fund - Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 #MDBRSRF - 63 days - June 10, 2023 syngap.fund/mdbr23 #SyngapConf - 236 days - book now, November 30, 2023 - Conf pre-registration link: Syngap.Fund/2023conf - We have signed with a hotel/venue, please stay tuned for room link - Large Latin Contingent too, just another this morning. List of biorepository collection opportunities, watch this webinar for more information https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1 - MED13L Foundation on April 30th, 2023 (Philadelphia, PA) - DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD) - KDVS Foundation, July 19th-21st 2023 (Orlando, FL) - STXBP1 Foundation, July 21st-23rd 2023 (Westminster, CO) - Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL) - (Potential) DUP15/Angelman, July 27th-29th 2023 (Nashville, TN) - (Potential) KAND, August 3rd-6th 2023 (Queens, NY) - (Potential) Global Genes, Sept 19th-20th 2023 (San Diego, CA) - IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH) - USP7/Prader Willi, Oct 5th-7th 2023 (Denver, CO) - TBRS Foundation, Oct 12th-14th 2023 (San Antonio, TX) - COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC) - ADNP Kids Research Foundation, Oct 30th-Nov 1st (Los Angeles, CA) - (Potential) Angelman Foundation, November 2023 (Orlando, FL) - SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL) - SLC6A1 Connect, Dec 1st-3rd 2023 (Orlando, FL) There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 100 of #Syngap10 - April 8, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

April 9, 2023

🌞🐒🐸SYNGAP1 is HOT: Gene Therapies, Monkey, COMBINEDBrain, Biorepository, Frazier, Frogs, 1,251 patients & studies #S10e99

Watch the COMBINEDBrain / TJB Webinar! https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1 Frogs are cool https://www.spectrumnews.org/news/profiles/how-helen-willsey-broke-new-ground-frogs-in-hand/ See Figure 2D https://pubmed.ncbi.nlm.nih.gov/33497602/ #SYNGAPcensus is at 1,251 https://www.syngapresearchfund.org/post/142-syngapcensus-2023-update-51-in-q1-2023 SYNGAP is HOT https://www.youtube.com/watch?v=X4iDyHc4xUA #Sprint4Syngap - 28 days, April 29, 2023 - https://www.syngapresearchfund.org/families/sprint4syngap-syngap-research-fund - Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 #MDBRSRF - 70 days - June 10, 2023 syngap.fund/mdbr23 #SyngapConf - 243 days - book now, November 30, 2023 - Conf pre-registration link: Syngap.Fund/2023conf - We have signed with a hotel/venue, please stay tuned for room link - Large Latin Contingent too, just another this morning. There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 99 of #Syngap10 - April 1, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat.

April 1, 2023

🌞🐒🐸SYNGAP1 is HOT: Gene Therapies, Monkey, Combined Brain, Biorepository, Frazier, Frogs, 1,251 patients & studies #S10e99

Watch the COMMBINEDbrain / TJB Webinar! https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1 Frogs are cool https://www.spectrumnews.org/news/profiles/how-helen-willsey-broke-new-ground-frogs-in-hand/ See Figure 2D https://pubmed.ncbi.nlm.nih.gov/33497602/ #SYNGAPcensus is at 1,251 https://www.syngapresearchfund.org/post/142-syngapcensus-2023-update-51-in-q1-2023 SYNGAP is HOT https://www.youtube.com/watch?v=X4iDyHc4xUA #Sprint4Syngap - 28 days, April 29, 2023 - https://www.syngapresearchfund.org/families/sprint4syngap-syngap-research-fund - Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 #MDBRSRF - 70 days - June 10, 2023 syngap.fund/mdbr23 #SyngapConf - 243 days - book now, November 30, 2023 - Conf pre-registration link: Syngap.Fund/2023conf - We have signed with a hotel/venue, please stay tuned for room link - Large Latin Contingent too, just another this morning. There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 99 of #Syngap10 - April 1, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

April 1, 2023

Building the SYNGAP1 SRF House – using the Milken Fastercures Research Partnership Maturity Model – #S10e98

Milken Fastercures RPMM - So much strong work and thinking here! https://milkeninstitute.org/centers/fastercures/train/toolkits/RPMM - Three floors: Start by doing what's necessary; then do what's possible; and suddenly you are doing the impossible. - St. Francis of Assisi - Cool Tweet: https://twitter.com/LindsayOkamoto/status/1639017493007335425?s=20 Why we need a house? www.fpwr.org - www.jdrf.org - www.runx1-fpd.org Press is key! Congrats to Peggy https://www.newsandtribune.com/news/clark_county/floyd-family-seeks-to-lessen-funding-gap-for-rare-genetic-disorder/article_d16460f4-c8f8-11ed-a60c-170e5bfff4d6.html Amazing Webinars - Jillian McKee - April 27th - https://syngap.fund/mckee Ciitizen SYNGAP1 count is at 211! Sign up or Update your Ciitizen Records - Sign-UP https://ciitizen.com/syngap1 - Sign-IN https://app.ciitizen.com/ #Sprint4Syngap - 36 days, April 29, 2023 - https://syngap.fund/sprint - Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 #MDBRSRF - 79 days - June 10, 2023 syngap.fund/mdbr23 #SyngapConf - 252 days - book now, November 30, 2023 - Conf pre-registration link: Syngap.Fund/2023conf - We have signed with a hotel/venue, please stay tuned for room link - Large Latin Contingent too, just another this morning. There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 98 of #Syngap10 - March 23, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

March 24, 2023

Building the SYNGAP1 SRF House – using the Milken Fastercures Research Partnership Maturity Model – #S10e98

Milken Fastercures RPMM - So much strong work and thinking here! https://milkeninstitute.org/centers/fastercures/train/toolkits/RPMM - Three floors: Start by doing what's necessary; then do what's possible; and suddenly you are doing the impossible. - St. Francis of Assisi - Cool Tweet: https://twitter.com/LindsayOkamoto/status/1639017493007335425?s=20 Why we need a house? www.fpwr.org - www.jdrf.org - www.runx1-fpd.org Press is key! Congrats to Peggy https://www.newsandtribune.com/news/clark_county/floyd-family-seeks-to-lessen-funding-gap-for-rare-genetic-disorder/article_d16460f4-c8f8-11ed-a60c-170e5bfff4d6.html Amazing Webinars - Jillian McKee - April 27th - https://syngap.fund/mckee Ciitizen SYNGAP1 count is at 211! Sign up or Update your Ciitizen Records - Sign-UP https://ciitizen.com/syngap1 - Sign-IN https://app.ciitizen.com/ #Sprint4Syngap - 36 days, April 29, 2023 - https://syngap.fund/sprint - Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 #MDBRSRF - 79 days - June 10, 2023 syngap.fund/mdbr23 #SyngapConf - 252 days - book now, November 30, 2023 - Conf pre-registration link: Syngap.Fund/2023conf - We have signed with a hotel/venue, please stay tuned for room link - Large Latin Contingent too, just another this morning. There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 98 of #Syngap10 - March 23, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

March 24, 2023

Talking to families with 2 year olds, 3 Webinars not to miss, and Sprint4Syngap, Stoke & Praxis Updates, GG Next 2023 Report – #S10e97

Community with families - Amazing time with the Hardings, thank you. https://www.facebook.com/monica.cruzharding/posts/pfbid02WPzjhp3jSMtetB2vHCvMDtyUzqFD2SdP6Ebi68XF8TZdqhvJoqMywVWASp4x8mVUl - Hattie and Tony at the pool with the Fosters - Foster movie link on website: https://www.syngapresearchfund.org/patient-stories/hattie/ - Foster press - 3/13/23 - KMBC News: https://www.kmbc.com/article/we-re-so-hopeful-local-girl-fighting-rare-disease/43279999/ - 2/28/23 - Fox4KC https://fox4kc.com/news/kansas-city-area-family-helping-spread-awareness-after-daughters-rare-disease/ - Throw them in occasionally. Talking to 2 year olds - LA, NorCal, DC, NY - https://www.syngapresearchfund.org/post/140-my-reema-syngap1 - You are fortunate to know. - Your future will be different and we have written that story, see McKee and Brimble - https://twitter.com/JillianLMcKee/status/1600202742269501442 - https://twitter.com/cureSYNGAP1/status/1636177159059574784 - We chose between Love and Fear, Hope and Despair https://www.demellospirituality.com/love-or-fear/ - Choose hope, love you kiddo by joining SRF and working with us for a better future. Amazing Webinars - From the EU this Thursday: https://www.syngapresearchfund.org/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development - Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1 - Jillian McKee - April 27th - https://syngap.fund/mckee Ciitizen SYNGAP1 count is at 211! Sign up or Update your Ciitizen Records - Sign-UP https://ciitizen.com/syngap1 - Sign-IN https://app.ciitizen.com/ Stoke and Praxis Updates - Stoke got permission to up the dose in the US, good news for patients and a sign that the FDA comes around. https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-fda-will-allow-administration - Praxis had good news on ET and will go to Phase 3, which is good, if you remember what happened with their last drug. https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-announces-topline-results-essential1 - See Next 2023 from Global Genes, industry updates start on page 50 https://20173539.fs1.hubspotusercontent-na1.net/hubfs/20173539/2023%20NEXT%20Report.pdf #Sprint4Syngap - https://syngap.fund/sprint - Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 96 of #Syngap10 - March 6, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

March 16, 2023

Talking to families with 2 year olds, 3 Webinars not to miss, and Sprint4Syngap, Stoke & Praxis Updates, GG Next 2023 Report – #S10e97

Community with families - Amazing time with the Hardings, thank you. https://www.facebook.com/monica.cruzharding/posts/pfbid02WPzjhp3jSMtetB2vHCvMDtyUzqFD2SdP6Ebi68XF8TZdqhvJoqMywVWASp4x8mVUl - Hattie and Tony at the pool with the Fosters - Foster movie link on website: https://www.syngapresearchfund.org/patient-stories/hattie/ - Foster press - 3/13/23 - KMBC News: https://www.kmbc.com/article/we-re-so-hopeful-local-girl-fighting-rare-disease/43279999/ - 2/28/23 - Fox4KC https://fox4kc.com/news/kansas-city-area-family-helping-spread-awareness-after-daughters-rare-disease/ - Throw them in occasionally. Talking to 2 year olds - LA, NorCal, DC, NY - https://www.syngapresearchfund.org/post/140-my-reema-syngap1 - You are fortunate to know. - Your future will be different and we have written that story, see McKee and Brimble - https://twitter.com/JillianLMcKee/status/1600202742269501442 - https://twitter.com/cureSYNGAP1/status/1636177159059574784 - We chose between Love and Fear, Hope and Despair https://www.demellospirituality.com/love-or-fear/ - Choose hope, love you kiddo by joining SRF and working with us for a better future. Amazing Webinars - From the EU this Thursday: https://www.syngapresearchfund.org/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development - Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1 - Jillian McKee - April 27th - https://syngap.fund/mckee Ciitizen SYNGAP1 count is at 211! Sign up or Update your Ciitizen Records - Sign-UP https://ciitizen.com/syngap1 - Sign-IN https://app.ciitizen.com/ Stoke and Praxis Updates - Stoke got permission to up the dose in the US, good news for patients and a sign that the FDA comes around. https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-fda-will-allow-administration - Praxis had good news on ET and will go to Phase 3, which is good, if you remember what happened with their last drug. https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-announces-topline-results-essential1 - See Next 2023 from Global Genes, industry updates start on page 50 https://20173539.fs1.hubspotusercontent-na1.net/hubfs/20173539/2023%20NEXT%20Report.pdf #Sprint4Syngap - https://syngap.fund/sprint - Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 96 of #Syngap10 - March 6, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

March 16, 2023

Rare Disease Day 2023 was epic and you should have been there. Sprint and Webinar update. #S10e96

RD Advocacy with Everylife Foundation was Epic. - https://everylifefoundation.org/rare-advocates/rare-disease-week/ - Join us next year! Be in cool pictures like this - https://twitter.com/rareadvocates/status/1631421473842667520 - https://twitter.com/RareAdvocates/status/1631038634936741890 - Here were our asks: - https://everylifefoundation.org/wp-content/uploads/2023/02/ELF-FY24-Appropriations_One-Pager.pdf - https://everylifefoundation.org/wp-content/uploads/2023/02/BENEFIT-Act_One-Pager_Feb-2023.pdf - https://everylifefoundation.org/wp-content/uploads/2023/02/Rare-Disease-Caucus-One-Pager_2_22_23.pdf - https://everylifefoundation.org/wp-content/uploads/2023/03/Ask4.pdf #Sprint4Syngap - https://syngap.fund/sprint - Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 - 18 Teams! Fourteen are already raising funds: Team Tavilla, Phoebe, Rocco, Emma Mae, Teddy, Reef, Gracyn, Andrew, Naya, Hope4Hadley, Kai, Saydee, Lizzy, Allison, Patrick. - Remember, there is an adaptive bike in play! - New family has an event to go to… COMMUNITY Amazing Webinars - From the EU this Thursday: https://www.syngapresearchfund.org/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development - Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1 - Jillian McKee - April 27th - https://syngap.fund/mckee Ciitizen SYNGAP1 count is at 209! Sign up or Update your Ciitizen Records - Sign-UP https://ciitizen.com/syngap1 - Sign-IN https://app.ciitizen.com/ Listen to #S10e95 There is so much work to do, volunteer [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 96 of #Syngap10 - March 6, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

March 6, 2023

Rare Disease Day 2023 was epic and you should have been there. Sprint and Webinar update. #S10e96

RD Advocacy with Everylife Foundation was Epic. - https://everylifefoundation.org/rare-advocates/rare-disease-week/ - Join us next year! Be in cool pictures like this - https://twitter.com/rareadvocates/status/1631421473842667520 - https://twitter.com/RareAdvocates/status/1631038634936741890 - Here were our asks: - https://everylifefoundation.org/wp-content/uploads/2023/02/ELF-FY24-Appropriations_One-Pager.pdf - https://everylifefoundation.org/wp-content/uploads/2023/02/BENEFIT-Act_One-Pager_Feb-2023.pdf - https://everylifefoundation.org/wp-content/uploads/2023/02/Rare-Disease-Caucus-One-Pager_2_22_23.pdf - https://everylifefoundation.org/wp-content/uploads/2023/03/Ask4.pdf #Sprint4Syngap - https://syngap.fund/sprint - Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 - 18 Teams! Fourteen are already raising funds: Team Tavilla, Phoebe, Rocco, Emma Mae, Teddy, Reef, Gracyn, Andrew, Naya, Hope4Hadley, Kai, Saydee, Lizzy, Allison, Patrick. - Remember, there is an adaptive bike in play! - New family has an event to go to… COMMUNITY Amazing Webinars - From the EU this Thursday: https://www.syngapresearchfund.org/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development - Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1 - Jillian McKee - April 27th - https://syngap.fund/mckee Ciitizen SYNGAP1 count is at 209! Sign up or Update your Ciitizen Records - Sign-UP https://ciitizen.com/syngap1 - Sign-IN https://app.ciitizen.com/ Listen to #S10e95 There is so much work to do, volunteer [email protected] [ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 96 of #Syngap10 - March 6, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

March 6, 2023

Rare Disease Day 2023 – Hattie Video, Coller & McKee Webinars, Missense SYNGAP1 iPSC, $20k, Apply for a Grant, Sprint4Syngap, Join us. #S10e95

Rare Disease Day 2023 - Hattie Video, Coller & McKee Webinars, Missense SYNGAP1 iPSC, $20k, Apply for a Grant, Sprint4Syngap, Join us. #S10e95 It’s RARE DISEASE DAY! Hattie has a new video! https://www.syngapresearchfund.org/families/movies I’m off to DC for NIH Day and RD Advocacy with Everylife Foundation - https://ncats.nih.gov/news/events/rdd - https://everylifefoundation.org/rare-advocates/rare-disease-week/ We have a $20k match! - https://syngap.fund/rdd23 - https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023 Deadline for Grants is 3/1 - https://www.syngapresearchfund.org/post/134-apply-for-syngap1-research-grants-by-march-1st-or-september-1st #Sprint4Syngap - https://syngap.fund/sprint23 - Main page https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 - 15 Teams! Eight already raising funds: Team Tavilla, Emma Mae, Reef, Kai, Naya, Hope4Hadley, Teddy & Lizzy. Seven more ready to go. - Remember, there is an adaptive bike in play! - New family has an event to go to… COMMUNITY Amazing Webinars - Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1 - Jillian McKee - April 27th - https://syngap.fund/mckee Ciitizen SYNGAP1 count is at 209! Sign up or Update your Ciitizen Records - Sign-UP https://ciitizen.com/syngap1 - Sign-IN https://app.ciitizen.com/ iPSCs & Missense Mutations/Variants - https://syngap.fund/ipsc - https://www.syngapresearchfund.org/ips-cell-models - 30 lines, 3 missense on the list, 1 more in Europe I know about - I urge you to raise for cell lines if you are a missense. $4k for a line, $7k for an isogenic control, $11k to make sure a mutation has a chance to be studied. 30% risk on the first line. There is so much work to do, volunteer - [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 95 of #Syngap10 - February 28, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

February 28, 2023

Rare Disease Day 2023 – Hattie Video, Coller & McKee Webinars, Missense SYNGAP1 iPSC, $20k, Apply for a Grant, Sprint4Syngap, Join us. #S10e95

It’s RARE DISEASE DAY! Hattie has a new video! https://www.syngapresearchfund.org/families/movies I’m off to DC for NIH Day and RD Advocacy with Everylife Foundation - https://ncats.nih.gov/news/events/rdd - https://everylifefoundation.org/rare-advocates/rare-disease-week/ We have a $20k match! - https://syngap.fund/rdd23 - https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023 Deadline for Grants is 3/1 - https://www.syngapresearchfund.org/post/134-apply-for-syngap1-research-grants-by-march-1st-or-september-1st #Sprint4Syngap - https://syngap.fund/sprint23 - Main page https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 - 15 Teams! Eight already raising funds: Team Tavilla, Emma Mae, Reef, Kai, Naya, Hope4Hadley, Teddy & Lizzy. Seven more ready to go. - Remember, there is an adaptive bike in play! - New family has an event to go to… COMMUNITY Amazing Webinars - Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1 - Jillian McKee - April 27th - https://syngap.fund/mckee Ciitizen SYNGAP1 count is at 209! Sign up or Update your Ciitizen Records - Sign-UP https://ciitizen.com/syngap1 - Sign-IN https://app.ciitizen.com/ iPSCs & Missense Mutations/Variants - https://syngap.fund/ipsc - https://www.syngapresearchfund.org/ips-cell-models - 30 lines, 3 missense on the list, 1 more in Europe I know about - I urge you to raise for cell lines if you are a missense. $4k for a line, $7k for an isogenic control, $11k to make sure a mutation has a chance to be studied. 30% risk on the first line. There is so much work to do, volunteer - [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 95 of #Syngap10 - February 28, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

February 28, 2023

Time to fundraise for SYNGAP1 Research! Great info on Webinars, Blog, PRAX-222 & SynGAP Stories… #S10e94

We have a $20k match! - https://syngap.fund/rdd23 - https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023 #Sprint4Syngap - https://syngap.fund/sprint23 - Main page https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 - 13 Teams! Four already raising funds: Team Tavilla, Team Naya, Hope4Hadley, Team Lizzy. Nine more ready to go. - Bonfire Shirts: https://www.bonfire.com/sprint-for-syngap-2023/ Amazing Webinars - Brain Surgery - Done https://www.syngapresearchfund.org/webinars/69-syngap1-and-epilepsy-surgery-is-it-time-to-consider-a-different-toolbox - Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1 - Jillian McKee - Date TDB - https://syngap.fund/mckee Killer Blogs on Free Genetic Testing - Simons https://www.syngapresearchfund.org/post/136-support-simons-searchlight-2023-campaign-sign-up - How to get testing https://www.syngapresearchfund.org/post/137-how-to-get-free-genetic-testing-for-people-with-autism-special-needs-epilepsy - Why it matters https://www.syngapresearchfund.org/post/138-why-getting-a-genetic-diagnosis-matters-especially-for-syngap1 - List of things to do this year! https://www.syngapresearchfund.org/post/139-srf-attended-advanced-therapies-week-in-miami-when-will-you-go-to-a-conference-for-syngap1 PRAX-222 Day! - https://twitter.com/cureSYNGAP1/status/1628189201232699393 - https://clinicaltrials.gov/ct2/show/NCT05737784?term=seizures&cond=Epilepsy&sfpd_s=02%2F08%2F2023&sfpd_d=14&sel_rss=new14 Syngap Stories is on! https://www.syngapresearchfund.org/syngap-stories Ciitizen is over 200! Update your Ciitizen Records - Sign-IN https://app.ciitizen.com/ - Sign-UP https://ciitizen.com/syngap1 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 94 of #Syngap10 - February 23, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

February 23, 2023

Time to fundraise for SYNGAP1 Research! Great info on Webinars, Blog, PRAX-222 & SynGAP Stories… #S10e94

We have a $20k match! - https://syngap.fund/rdd23 - https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023 #Sprint4Syngap - https://syngap.fund/sprint23 - Main page https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 - 13 Teams! Four already raising funds: Team Tavilla, Team Naya, Hope4Hadley, Team Lizzy. Nine more ready to go. - Bonfire Shirts: https://www.bonfire.com/sprint-for-syngap-2023/ Amazing Webinars - Brain Surgery - Done https://www.syngapresearchfund.org/webinars/69-syngap1-and-epilepsy-surgery-is-it-time-to-consider-a-different-toolbox - Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1 - Jillian McKee - Date TDB - https://syngap.fund/mckee Killer Blogs on Free Genetic Testing - Simons https://www.syngapresearchfund.org/post/136-support-simons-searchlight-2023-campaign-sign-up - How to get testing https://www.syngapresearchfund.org/post/137-how-to-get-free-genetic-testing-for-people-with-autism-special-needs-epilepsy - Why it matters https://www.syngapresearchfund.org/post/138-why-getting-a-genetic-diagnosis-matters-especially-for-syngap1 - List of things to do this year! https://www.syngapresearchfund.org/post/139-srf-attended-advanced-therapies-week-in-miami-when-will-you-go-to-a-conference-for-syngap1 PRAX-222 Day! - https://twitter.com/cureSYNGAP1/status/1628189201232699393 - https://clinicaltrials.gov/ct2/show/NCT05737784?term=seizures&cond=Epilepsy&sfpd_s=02%2F08%2F2023&sfpd_d=14&sel_rss=new14 Syngap Stories is on! https://www.syngapresearchfund.org/syngap-stories Ciitizen is over 200! Update your Ciitizen Records- Sign-IN https://app.ciitizen.com/ - Sign-UP https://ciitizen.com/syngap1 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 94 of #Syngap10 - February 23, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

February 23, 2023

More on ENDD gift at Penn, but first, Finding SYNGAP1 Patients, Hotels & Grief in Florida – #S10e93

-Beacon - EEGs are critical for us. https://beacon.bio/ -Diagnosis: Heather - Survey: https://syngap.fund/maybe - Learn about this here: https://www.syngapresearchfund.org/post/probably-genetic-three-month-program-update - #CouldItBeSYNGAP1 - https://sparkforautism.org/ - #s10e91 - https://www.youtube.com/watch?v=JBQNGKiYQEE - OUAG - Testing Poem - Roses are red, Violets are blueYou gave a diagnosis of #ASD, But that's not really true. https://twitter.com/onceuponagene/status/1623714824332128261 -Rare Disease Swarm - So many genes, moving so fast. - Tweet: https://twitter.com/JMGraglia/status/1625007454244462595?s=20&t=DptFQ_8zFEZSc-FmeG2R7w - Updated graphic: https://twitter.com/JMGraglia/status/1625013756714717184?s=20&t=DptFQ_8zFEZSc-FmeG2R7w - Hotels are cool, start planning for a great weekend in December in Florida now… - Short Link: https://syngap.fund/2023conf - Long link https://docs.google.com/forms/d/e/1FAIpQLSfetAr8YH41nbJrJy1uXqJeS37nQD6khjDn-LiFxIWo5oUBjA/viewform -Grief: https://twitter.com/curesyngap1/status/1623934799009419265 - ENDD Webinar hosted by STXBP1 - Tweet: https://twitter.com/cureSYNGAP1/status/1624860304466415616 - Youtube: https://www.youtube.com/watch?v=uOcMAO4oVSE - More links in Episode 92 #S10e92 https://www.youtube.com/watch?v=AYMx0SbQ1H8 Ciitizen is over 200! Update your Ciitizen Records- Sign-IN https://app.ciitizen.com/ - Sign-UP https://ciitizen.com/syngap1 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 93 of #Syngap10 - February 12, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

February 14, 2023

More on ENDD gift at Penn, but first, Finding SYNGAP1 Patients, Hotels & Grief in Florida – #S10e93

-Beacon - EEGs are critical for us. https://beacon.bio/ -Diagnosis: Heather - Survey: https://syngap.fund/maybe - Learn about this here: https://www.syngapresearchfund.org/post/probably-genetic-three-month-program-update - #CouldItBeSYNGAP1 - https://sparkforautism.org/ - #s10e91 - https://www.youtube.com/watch?v=JBQNGKiYQEE - OUAG - Testing Poem - Roses are red, Violets are blue You gave a diagnosis of #ASD, But that's not really true. https://twitter.com/onceuponagene/status/1623714824332128261 -Rare Disease Swarm - So many genes, moving so fast. - Tweet: https://twitter.com/JMGraglia/status/1625007454244462595?s=20&t=DptFQ_8zFEZSc-FmeG2R7w - Updated graphic: https://twitter.com/JMGraglia/status/1625013756714717184?s=20&t=DptFQ_8zFEZSc-FmeG2R7w - Hotels are cool, start planning for a great weekend in December in Florida now… - Short Link: https://syngap.fund/2023conf - Long link https://docs.google.com/forms/d/e/1FAIpQLSfetAr8YH41nbJrJy1uXqJeS37nQD6khjDn-LiFxIWo5oUBjA/viewform -Grief: https://twitter.com/curesyngap1/status/1623934799009419265 - ENDD Webinar hosted by STXBP1 - Tweet: https://twitter.com/cureSYNGAP1/status/1624860304466415616 - Youtube: https://www.youtube.com/watch?v=uOcMAO4oVSE - More links in Episode 92 #S10e92 https://www.youtube.com/watch?v=AYMx0SbQ1H8 Ciitizen is over 200! Update your Ciitizen Records - Sign-IN https://app.ciitizen.com/ - Sign-UP https://ciitizen.com/syngap1 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 93 of #Syngap10 - February 12, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

February 14, 2023

10 Reasons SYNGAP-land is hopeful & exciting today #S10e92

Last week RegEl announced that their CNS Pipeline: Dravet, SCN2A & SYNGAP1 News https://twitter.com/cureSYNGAP1/status/1621293977579442177 Follow her https://twitter.com/navneetkmatharu And him https://www.linkedin.com/in/jordane-dimidschstein-a1114852 Yesterday, Penn announced a $25m grant to the ENDD Program which is a dream team.Announcement: https://twitter.com/curesyngap1/status/1623000399300153344?s=46&t=GQBKtxA44lny0qsvNyEkAw Prosser Webinar: https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides Heller Webinar: https://www.syngapresearchfund.org/webinars/dr-elizabeth-heller-phd-upenn-understanding-syngap1 Ingo updated his famous gene timeline chart and included SYNGAP1 - we are on the map https://twitter.com/ingohelbig/status/1615693871769321472?s=46&t=XfQ6xkKY7cQaFZnRTbaSNw Praxis had an earnings call, and it looks like they will have a big year and enough cash to get to next year. https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-7 We have a new podcast! Yes, SRF was one of the first to create its own podcast and now we have two. https://www.syngapresearchfund.org/syngap-stories Grants are due on March 1 and we already have a few! https://www.syngapresearchfund.org/post/134-apply-for-syngap1-research-grants-by-march-1st-or-september-1st Rare Disease Day is end of month https://www.syngapresearchfund.org/post/133-what-is-rare-disease-day-why-is-it-the-last-day-in-february-syngap1 Three ways to raise money!We have a match for all donations this month up to $20k, donate! https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023 Sprint for Syngap: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 MDBR: https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-million-dollar-bike-ride-mdbr-2023-for-syngap1 We have a clinical trials page. Check it out. https://www.syngapresearchfund.org/families/resources/clinical-trials Many other signs of progressRSRT Gene Therapy Announcement. https://twitter.com/cnsdrughunter/status/1617522729900707840?s=46&t=XW7hz9hgm6v3IAOPAmS_Kg Rare Revolution Magazine on Siblings. https://rarerevolutionmagazine.com/rare-reports/ Poison Exon Dance from the Carvill Lab. https://www.youtube.com/watch?v=jV3Ne0nmmNU Ciitizen is over 200! Update your Ciitizen Records- Sign-IN https://app.ciitizen.com/ - Sign-UP https://ciitizen.com/syngap1 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 92 of #Syngap10 - February 8, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

February 8, 2023

10 Reasons SYNGAP-land is hopeful & exciting today #S10e92

1. Last week RegEl announced that their CNS Pipeline: Dravet, SCN2A & SYNGAP1 - News https://twitter.com/cureSYNGAP1/status/1621293977579442177 - Follow her https://twitter.com/navneetkmatharu - And him https://www.linkedin.com/in/jordane-dimidschstein-a1114852 2. Yesterday, Penn announced a $25m grant to the ENDD Program which is a dream team. - Announcement: https://twitter.com/curesyngap1/status/1623000399300153344?s=46&t=GQBKtxA44lny0qsvNyEkAw - Prosser Webinar: https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides - Heller Webinar: https://www.syngapresearchfund.org/webinars/dr-elizabeth-heller-phd-upenn-understanding-syngap1 3. Ingo updated his famous gene timeline chart and included SYNGAP1 - we are on the map https://twitter.com/ingohelbig/status/1615693871769321472?s=46&t=XfQ6xkKY7cQaFZnRTbaSNw 4. Praxis had an earnings call, and it looks like they will have a big year and enough cash to get to next year. https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-7 5. We have a new podcast! Yes, SRF was one of the first to create its own podcast and now we have two. https://www.syngapresearchfund.org/syngap-stories 6. Grants are due on March 1 and we already have a few! https://www.syngapresearchfund.org/post/134-apply-for-syngap1-research-grants-by-march-1st-or-september-1st 7. Rare Disease Day is end of month https://www.syngapresearchfund.org/post/133-what-is-rare-disease-day-why-is-it-the-last-day-in-february-syngap1 8. Three ways to raise money! - We have a match for all donations this month up to $20k, donate! https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023 - Sprint for Syngap: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 - MDBR: https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-million-dollar-bike-ride-mdbr-2023-for-syngap1 9. We have a clinical trials page. Check it out. https://www.syngapresearchfund.org/families/resources/clinical-trials 10. Many other signs of progress - RSRT Gene Therapy Announcement. https://twitter.com/cnsdrughunter/status/1617522729900707840?s=46&t=XW7hz9hgm6v3IAOPAmS_Kg - Rare Revolution Magazine on Siblings. https://rarerevolutionmagazine.com/rare-reports/ - Poison Exon Dance from the Carvill Lab. https://www.youtube.com/watch?v=jV3Ne0nmmNU This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 92 of #Syngap10 - February 8, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

February 8, 2023

Why we need to keep talking about SYNGAP1 #S10e91

Why we need to keep talking about SYNGAP1 #S10e91 Press is good! - Short link: https://syngap.fund/nw - Long link: https://www.newsweek.com/my-son-syngap1-rare-genetic-condition-1776362 Jo Ashline in Invitae: https://blog.invitae.com/finding-andrews-truth-a-family-s-unexpected-rare-disease-diagnosis-e21e97da6baf Episode 90 was good, remember to listen, #S10e90 https://www.youtube.com/watch?v=Mp4jHg-GXjE Ciitizen is over 200! Update your Ciitizen Records - Sign-IN https://app.ciitizen.com/ - Sign-UP https://ciitizen.com/syngap1 Conference Videos are up from Science Day! https://www.syngapresearchfund.org/post/2022-syngap1-conference-roundtable Grant applications due March 1, 2023 https://www.syngapresearchfund.org/professionals/grants/how-to-apply Priority Areas: - Biomarkers & Endpoints - VUS Resolution - Characterizing SYNGAP1 patients in the literature - SYNGAP1 Translational Science Help Research with this brief survey. Tell a friend and share these links - 200 & counting, $50 each. - Short link: https://syngap.fund/UCSF_survey - Long link: fd91u8h6784.typeform.com/to/cvMzzG9z?utm_source=advocacy_org&utm_medium=email&utm_campaign=predictive_tool_survey&utm_term=syngap_research_fund This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 91 of #Syngap10 - January 31, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

January 31, 2023

Why we need to keep talking about SYNGAP1 #S10e91

Press is good! - Short link: https://syngap.fund/nw - Long link: https://www.newsweek.com/my-son-syngap1-rare-genetic-condition-1776362 Jo Ashline in Invitae: https://blog.invitae.com/finding-andrews-truth-a-family-s-unexpected-rare-disease-diagnosis-e21e97da6baf Episode 90 was good, remember to listen, #S10e90 https://www.youtube.com/watch?v=Mp4jHg-GXjE Ciitizen is over 200! Update your Ciitizen Records- Sign-IN https://app.ciitizen.com/ - Sign-UP https://ciitizen.com/syngap1 Conference Videos are up from Science Day! https://www.syngapresearchfund.org/post/2022-syngap1-conference-roundtable Grant applications due March 1, 2023 https://www.syngapresearchfund.org/professionals/grants/how-to-apply Priority Areas: - Biomarkers & Endpoints - VUS Resolution - Characterizing SYNGAP1 patients in the literature - SYNGAP1 Translational ScienceHelp Research with this brief survey. Tell a friend and share these links - 200 & counting, $50 each. - Short link: https://syngap.fund/UCSF_survey - Long link: fd91u8h6784.typeform.com/to/cvMzzG9z?utm_source=advocacy_org&utm_medium=email&utm_campaign=predictive_tool_survey&utm_term=syngap_research_fund This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 91 of #Syngap10 - January 31, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

January 31, 2023

Seven Ways to advance SYNGAP1 Research this week. Post video, take survey, tell us your opinion on Rare-X/Simons, Update Ciitizen, #SRFWW, JR’s book, Plan. #S10e90

Seven Ways to help: - Post a video with a seizure - Take a 10 minute survey - Tell us how you feel about Simons and Rare-X - Signup for or Update Ciitizen - Signup for or share a Wednesday Warrior - Buy JR’s book and give it to someone - Plan your fundraiser this year Videos of kids with seizures. #SYNGAPseizure #biomarker Help Research with this brief survey. Tell a friend and share these links - 150 & counting, $50 each. - Short link: https://syngap.fund/UCSF_survey - Long link: fd91u8h6784.typeform.com/to/cvMzzG9z?utm_source=advocacy_org&utm_medium=email&utm_campaign=predictive_tool_survey&utm_term=syngap_research_fund Simons and Rare-X - What do you think? - https://syngap1.rare-x.org/ - https://www.simonssearchlight.org/research/what-we-study/syngap1/ Update your Ciitizen Records- Sign-IN https://app.ciitizen.com/ - Sign-UP https://ciitizen.com/syngap1 Another special Wednesday Warrior, please read - 17 year old - https://www.syngapresearchfund.org/syngap-warrior/eli-2 - https://www.syngapresearchfund.org/get-involved/advocacy/share-your-story JR WEBINAR - MORE OF EVERYTHING - BOOK - Recording Available - https://syngap.fund/jr- Buy the book: https://www.amazon.com/More-Everything-extreme-special-emotional-ebook/dp/B0BQ2C7HNL Congrats to the Stromgaard Lab on a big award. - https://twitter.com/cureSYNGAP1/status/1614948835067068416?s=20&t=KxO5w7Fk9MuOvc6wHyUWUw Thank you to Ingo for updating your graphic on genes - https://twitter.com/ingohelbig/status/1615693871769321472?s=46&t=XfQ6xkKY7cQaFZnRTbaSNw This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 90 of #Syngap10 - January 21, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

January 21, 2023

Seven Ways to advance SYNGAP1 Research this week. Post video, take survey, tell us your opinion on Rare-X/Simons, Update Ciitizen, #SRFWW, JR’s book, Plan. #S10e90

Seven Ways to help: - Post a video with a seizure - Take a 10 minute survey - Tell us how you feel about Simons and Rare-X - Signup for or Update Ciitizen - Signup for or share a Wednesday Warrior - Buy JR’s book and give it to someone - Plan your fundraiser this year Videos of kids with seizures. #SYNGAPseizure #biomarker Help Research with this brief survey. Tell a friend and share these links - 150 & counting, $50 each. - Short link: https://syngap.fund/UCSF_survey - Long link: fd91u8h6784.typeform.com/to/cvMzzG9z?utm_source=advocacy_org&utm_medium=email&utm_campaign=predictive_tool_survey&utm_term=syngap_research_fund Simons and Rare-X - What do you think? - https://syngap1.rare-x.org/ - https://www.simonssearchlight.org/research/what-we-study/syngap1/ Update your Ciitizen Records - Sign-IN https://app.ciitizen.com/ - Sign-UP https://ciitizen.com/syngap1 Another special Wednesday Warrior, please read - 17 year old - https://www.syngapresearchfund.org/syngap-warrior/eli-2 - https://www.syngapresearchfund.org/get-involved/advocacy/share-your-story JR WEBINAR - MORE OF EVERYTHING - BOOK - Recording Available - https://syngap.fund/jr - Buy the book: https://www.amazon.com/More-Everything-extreme-special-emotional-ebook/dp/B0BQ2C7HNL Congrats to the Stromgaard Lab on a big award. - https://twitter.com/cureSYNGAP1/status/1614948835067068416?s=20&t=KxO5w7Fk9MuOvc6wHyUWUw Thank you to Ingo for updating your graphic on genes - https://twitter.com/ingohelbig/status/1615693871769321472?s=46&t=XfQ6xkKY7cQaFZnRTbaSNw This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 90 of #Syngap10 - January 21, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

January 21, 2023

JR’s book, ORCA & RareX, Data talks, Update Ciitizen, Syndrome Management, ASOs for the Brain, Libby & Espy #S10e89

JR WEBINAR - MORE OF EVERYTHING - BOOK - Thursday January 17, 2023 - https://syngap.fund/jr - Direct link: https://us02web.zoom.us/webinar/register/WN_EMzPKDWiRluBMmslT0wpdA ORCA Progress and Rare-X - Sign up now and if signed up, take the ORCA. - Login/Signup for Rare-X https://syngap1.rare-x.org/ - Take the ORCA Ingo’s CNS talk shows us what is possible with Ciitizen Data, other data. And how distinct SYNGAP1 is… Thread https://twitter.com/JMGraglia/status/1612978647107002368 Distinct https://twitter.com/JMGraglia/status/1612978675053658113 SYBGAP1 Poster https://twitter.com/JillianLMcKee/status/1600202742269501442 Update your Ciitizen Records - Sign-IN https://app.ciitizen.com/ - Sign-UP https://ciitizen.com/syngap1 All about Syndrome Management, let’s get beyond seizures. https://twitter.com/CNSdrughunter/status/1612863006148366356 PRAX-222 is number 3. So exciting. To see ASOs go into the Brain. 1. Stoke with #SCN1A 2. Ultragenyx with Angelman Syndrome 3. Praxis with #SCN2A via #PRAX222 4. Who will 4 be? Will it be #CDKL5? #STXBP1? SYNGAP1? Very special Wednesday Warrior, please read - 19 year olds https://twitter.com/cureSYNGAP1/status/1613263197930422272 Ellen’s Dx Journey - 40 year old https://www.syngapresearchfund.org/post/131-is-it-genetic-my-40-year-journey-of-misdiagnoses-for-my-son This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 89 of #Syngap10 - January 14, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

January 16, 2023

JR’s book, ORCA & RareX, Data talks, Update Ciitizen, Syndrome Management, ASOs for the Brain, Libby & Espy #S10e89

JR’s book, ORCA & RareX, Data talks, Update Ciitizen, Syndrome Management, ASOs for the Brain, Libby & Espy #S10e89 JR WEBINAR - MORE OF EVERYTHING - BOOK - Thursday January 17, 2023 - https://syngap.fund/jr - Direct link: https://us02web.zoom.us/webinar/register/WN_EMzPKDWiRluBMmslT0wpdA ORCA Progress and Rare-X - Sign up now and if signed up, take the ORCA. - Login/Signup for Rare-X https://syngap1.rare-x.org/ - Take the ORCA Ingo’s CNS talk shows us what is possible with Ciitizen Data, other data. And how distinct SYNGAP1 is… Thread https://twitter.com/JMGraglia/status/1612978647107002368 Distinct https://twitter.com/JMGraglia/status/1612978675053658113 SYBGAP1 Poster https://twitter.com/JillianLMcKee/status/1600202742269501442 Update your Ciitizen Records - Sign-IN https://app.ciitizen.com/ - Sign-UP https://ciitizen.com/syngap1 All about Syndrome Management, let’s get beyond seizures. https://twitter.com/CNSdrughunter/status/1612863006148366356 PRAX-222 is number 3. So exciting. To see ASOs go into the Brain. Stoke with #SCN1A Ultragenyx with Angelman Syndrome Praxis with #SCN2A via #PRAX222 Who will 4 be? Will it be #CDKL5? #STXBP1? SYNGAP1? Very special Wednesday Warrior, please read - 19 year olds https://twitter.com/cureSYNGAP1/status/1613263197930422272 Ellen’s Dx Journey - 40 year old https://www.syngapresearchfund.org/post/131-is-it-genetic-my-40-year-journey-of-misdiagnoses-for-my-son This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 89 of #Syngap10 - January 14, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

January 16, 2023

New Grant, Rare Affair, SYNGAP1 research and events #S10e88

NEW GRANT - Cobb & Kind #AAV Grant by SRF US & UK LinkedIn https://www.linkedin.com/feed/update/urn:li:activity:7016828620451053568 Twitter https://twitter.com/cureSYNGAP1/status/1611059709301362688 Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02McP84y7CP3FuGVS9huTGmP7A5NBGr6AQn26pYih1y3WptpVuDkRD118V65NpMQrWl Announcement https://www.syngapresearchfund.org/post/pr-14-syngap-research-fund-u-s-and-syngap-research-fund-uk-award-grant-to-the-university-of-edinburgh-medical-schools-patrick-wild-centre-centre-for-discovery-brain-sciences #RAREAFFAIR #JPM23 WAS AWESOME - KAKIS FOCUSED ON BIOMARKERS https://www.linkedin.com/in/allyson-berent-36621523/ Saving Ryan - #BIOMARKER - BIOLOGICAL AND DIGITAL ARE NEEDED https://www.linkedin.com/posts/graglia_jpm2023-precisionmedicine-biotech-activity-7018331014909353984-NLLL GLOBAL #RAREBEARS FOR A KIDDO NEAR YEAR YOU https://www.rarescience.org/rare-science-partner/syngap1-research-fund/ #SYNGAP1 in BEYOND THE ION CHANNEL https://twitter.com/cureSYNGAP1/status/1611459555250311171 http://epilepsygenetics.net/2023/01/06/syngap1-three-things-to-know-in-2023/ #HELLERLAB FUNDED BY #MDBR FOR ANOTHER YEAR https://twitter.com/eahellerphd/status/1611414154946183169 #S10e14 https://www.youtube.com/watch?v=VpNJqjL0I-w #NOSPHARMA HAS #SYNGAP ON THE PIPELINE https://www.linkedin.com/posts/anmolsnagpal_nospharma-innovating-treatments-for-rare-activity-7017271522109083648-Oeip/ See #S10e75 https://www.youtube.com/watch?v=lWFLyqLLVQQ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 88 of #Syngap10 - January 10, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

January 10, 2023

New Grant, Rare Affair, SYNGAP1 research and events #S10e88

NEW GRANT - Cobb & Kind #AAV Grant by SRF US & UK LinkedIn https://www.linkedin.com/feed/update/urn:li:activity:7016828620451053568 Twitter https://twitter.com/cureSYNGAP1/status/1611059709301362688 Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02McP84y7CP3FuGVS9huTGmP7A5NBGr6AQn26pYih1y3WptpVuDkRD118V65NpMQrWl Announcement https://www.syngapresearchfund.org/post/pr-14-syngap-research-fund-u-s-and-syngap-research-fund-uk-award-grant-to-the-university-of-edinburgh-medical-schools-patrick-wild-centre-centre-for-discovery-brain-sciences #RAREAFFAIR #JPM23 WAS AWESOME - KAKIS FOCUSED ON BIOMARKERS https://www.linkedin.com/in/allyson-berent-36621523/ Saving Ryan - #BIOMARKER - BIOLOGICAL AND DIGITAL ARE NEEDED https://www.linkedin.com/posts/graglia_jpm2023-precisionmedicine-biotech-activity-7018331014909353984-NLLL GLOBAL #RAREBEARS FOR A KIDDO NEAR YEAR YOU https://www.rarescience.org/rare-science-partner/syngap1-research-fund/ #SYNGAP1 in BEYOND THE ION CHANNEL https://twitter.com/cureSYNGAP1/status/1611459555250311171 http://epilepsygenetics.net/2023/01/06/syngap1-three-things-to-know-in-2023/ #HELLERLAB FUNDED BY #MDBR FOR ANOTHER YEAR https://twitter.com/eahellerphd/status/1611414154946183169 #S10e14 https://www.youtube.com/watch?v=VpNJqjL0I-w #NOSPHARMA HAS #SYNGAP ON THE PIPELINE https://www.linkedin.com/posts/anmolsnagpal_nospharma-innovating-treatments-for-rare-activity-7017271522109083648-Oeip/ See #S10e75 https://www.youtube.com/watch?v=lWFLyqLLVQQ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 88 of #Syngap10 - January 10, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

January 10, 2023

SRF 2022 Numbers, Great Press, a wonderful wedding. #S10e87

SRF BY THE NUMBERS IN 2022 Twitter https://twitter.com/JMGraglia/status/1610633778015383552 Source https://www.syngapresearchfund.org/post/srf-2022-the-year-in-review-by-the-numbers GREAT PRESS Diagnosis of a 40 year old #SYNGAPian Twitter https://twitter.com/cureSYNGAP1/status/1610656947447169025 Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02mur5g8SLEwjNNWafdQCzEJdUxRshVL4zwE1qRdZdHyTUHUrnFXU5D11JNJBew3Nkl LinkedIn https://www.linkedin.com/feed/update/urn:li:activity:7016425793358626816 Inside Precision Medicine Profile Twitter https://twitter.com/cureSYNGAP1/status/1610793389544570882 Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02xVVu69w4bAMA8kPe7kcAVg6HkvVrMcsEmBmMM56wxWCu7VbUHpAunr5YgNMPVwgrl Linkedin https://www.linkedin.com/posts/curesyngap1_rare-parents-tackling-rare-diseases-activity-7016560489325375488-prUZ DNAtoday Podcast LinkedIn https://www.linkedin.com/feed/update/urn:li:activity:7014595296269586432 Twitter https://twitter.com/cureSYNGAP1/status/1608911995625164800 Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02V5WJnsGZaVj1MR9fotCY2NGEAuWZoNPKrmFf5YaWuQjhSRL3WM6BiHtf63KGFfAcl Source https://dnapodcast.com/episodes/2022/12/30/217-syngap1-with-mike-graglia-and-elli-brimble DEANNA IS AMAZING Wednesday Warrior https://www.syngapresearchfund.org/families/support/syngap-warriors Sign up to be a warrior https://www.syngapresearchfund.org/get-involved/advocacy/share-your-story Photos https://twitter.com/JMGraglia/status/1610790226607366144 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 87 of #Syngap10 - January 4, 2023 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

January 5, 2023

SRF 2022 Numbers, Great Press, a wonderful wedding. #S10e87

SRF BY THE NUMBERS IN 2022 Twitter https://twitter.com/JMGraglia/status/1610633778015383552 Source https://www.syngapresearchfund.org/post/srf-2022-the-year-in-review-by-the-numbers GREAT PRESS Diagnosis of a 40 year old #SYNGAPian Twitter https://twitter.com/cureSYNGAP1/status/1610656947447169025 Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02mur5g8SLEwjNNWafdQCzEJdUxRshVL4zwE1qRdZdHyTUHUrnFXU5D11JNJBew3Nkl LinkedIn https://www.linkedin.com/feed/update/urn:li:activity:7016425793358626816 Inside Precision Medicine Profile Twitter https://twitter.com/cureSYNGAP1/status/1610793389544570882 Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02xVVu69w4bAMA8kPe7kcAVg6HkvVrMcsEmBmMM56wxWCu7VbUHpAunr5YgNMPVwgrl Linkedin https://www.linkedin.com/posts/curesyngap1_rare-parents-tackling-rare-diseases-activity-7016560489325375488-prUZ DNAtoday Podcast LinkedIn https://www.linkedin.com/feed/update/urn:li:activity:7014595296269586432 Twitter https://twitter.com/cureSYNGAP1/status/1608911995625164800 Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02V5WJnsGZaVj1MR9fotCY2NGEAuWZoNPKrmFf5YaWuQjhSRL3WM6BiHtf63KGFfAcl Source https://dnapodcast.com/episodes/2022/12/30/217-syngap1-with-mike-graglia-and-elli-brimble DEANNA IS AMAZING Wednesday Warrior https://www.syngapresearchfund.org/families/support/syngap-warriors Sign up to be a warrior https://www.syngapresearchfund.org/get-involved/advocacy/share-your-story Photos https://twitter.com/JMGraglia/status/1610790226607366144 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 87 of #Syngap10 - January 4, 2023 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

January 5, 2023

#SYNGAPconf22 was a hit, join us in 2023… #S10e86

PRE-REGISTER FOR NEXT YEAR https://twitter.com/cureSYNGAP1/status/1608462863819067397 https://docs.google.com/forms/d/e/1FAIpQLSfetAr8YH41nbJrJy1uXqJeS37nQD6khjDn-LiFxIWo5oUBjA/viewform Buy this book on Amazon or on JR’s website - #MoreOfEverthing by JR https://janiereade.com/ https://www.amazon.com/More-Everything-extreme-special-emotional-ebook/dp/B0BQ2C7HNL JACKIE KANCIR STORY https://www.facebook.com/cureSYNGAP1/posts/pfbid0gTTnF77VdbTirweTyKqKxHzDkNz66jUxxnvwMzjUxzwzFU1Q1U4HYrDywFMoBeAkl https://twitter.com/cureSYNGAP1/status/1608216895240671232?s=20&t=INvuB36y5oJM-bL_RKtscg https://www.linkedin.com/feed/update/urn:li:activity:7013986280099250177 CIITIZEN DATA BY CHOP https://twitter.com/JillianLMcKee/status/1600202742269501442 SIGN UP FOR CIITIZEN ciitizen.com/syngap1 SCIENCE DAY AGENDAhttps://twitter.com/sandysmith317/status/1598322472037801984 FAMILY DAY AGENDA 8:30 AM SYNGAP1 CAREGIVERS: REALITY, RESILIENCE AND RESOURCES - Becky 10:45 AM REGISTRIES - Invitae, Simons, Rare-X w/Q&A 12:15 PM GETTING CLINICAL TRIAL READY - Kathie Bishop, Acadia 1:15 PM PRAXIS 1:40 PM TAKING ON BEHAVIORS - Jackie Kancir, SYNGAP1 Mom & Advocate 2:30 PM MORE OF EVERYTHING BOOK LAUNCH - Janie Reade, SYNGAP1 Mom & Author 3:20 PM SRF LATIN AMERICA - FONDO DE INVESTIGATION SYNGAP - Vicky 3:45 PM SRF YEAR IN REVIEW - Rebecca, Peter, Pavel 4:30 PM LOOKING TO THE FUTURE - Mike 6:30 PM COMMUNITY DINNER This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 86 of #Syngap10 - December 29, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

December 29, 2022

#SYNGAPconf22 was a hit, join us in 2023… #S10e86

PREREGISTER FOR NEXT YEAR https://twitter.com/cureSYNGAP1/status/1608462863819067397 https://docs.google.com/forms/d/e/1FAIpQLSfetAr8YH41nbJrJy1uXqJeS37nQD6khjDn-LiFxIWo5oUBjA/viewform Buy this book on Amazon or on JR’s website - #MoreOfEverthing by JR https://janiereade.com/ https://www.amazon.com/More-Everything-extreme-special-emotional-ebook/dp/B0BQ2C7HNL JACKIE KANCIR STORY https://www.facebook.com/cureSYNGAP1/posts/pfbid0gTTnF77VdbTirweTyKqKxHzDkNz66jUxxnvwMzjUxzwzFU1Q1U4HYrDywFMoBeAkl https://twitter.com/cureSYNGAP1/status/1608216895240671232?s=20&t=INvuB36y5oJM-bL_RKtscg https://www.linkedin.com/feed/update/urn:li:activity:7013986280099250177 CIITIZEN DATA BY CHOP https://twitter.com/JillianLMcKee/status/1600202742269501442 SIGN UP FOR CIITIZEN ciitizen.com/syngap1 SCIENCE DAY AGENDA https://twitter.com/sandysmith317/status/1598322472037801984 FAMILY DAY AGENDA 8:30 AM SYNGAP1 CAREGIVERS: REALITY, RESILIENCE AND RESOURCES - Becky 10:45 AM REGISTRIES - Invitae, Simons, Rare-X w/Q&A 12:15 PM GETTING CLINICAL TRIAL READY - Kathie Bishop, Acadia 1:15 PM PRAXIS 1:40 PM TAKING ON BEHAVIORS - Jackie Kancir, SYNGAP1 Mom & Advocate 2:30 PM MORE OF EVERYTHING BOOK LAUNCH - Janie Reade, SYNGAP1 Mom & Author 3:20 PM SRF LATIN AMERICA - FONDO DE INVESTIGATION SYNGAP - Vicky 3:45 PM SRF YEAR IN REVIEW - Rebecca, Peter, Pavel 4:30 PM LOOKING TO THE FUTURE - Mike 6:30 PM COMMUNITY DINNER This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 86 of #Syngap10 - December 29, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

December 29, 2022

#AES2022 clearly showed us that SRF & SYNGAP1 have arrived… #S10e85

#AES2022 clearly showed us that SRF & SYNGAP1 have arrived… #S10e85 Dr. Grinspan on AES https://www.neurologylive.com/view/partnering-clinicians-parents-motivator-pediatric-epilepsy-research-zachary-grinspan Ana Mingorance on SYNGAP1 and #EscapeVelocity https://www.draccon.com/dracaena-report/aes2022 Dr. Dennis Lal on AES & Geneticshttps://twitter.com/LalDennis/status/1600617199110070286 Mike’s Talk at AEShttps://twitter.com/LouisTDang/status/1598753675714887684 https://twitter.com/IDreamofGenes/status/1598753872172191745 https://twitter.com/john_oldenhof/status/1598756993073717249 CAMP4 Poster by Ali Al Abdullatif, MsChttps://twitter.com/camp4tx/status/1601222388317917186 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 85 of #Syngap10 - December 29, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

December 29, 2022

#AES2022 clearly showed us that SRF & SYNGAP1 have arrived… #S10e85

Dr. Grinspan on AES https://www.neurologylive.com/view/partnering-clinicians-parents-motivator-pediatric-epilepsy-research-zachary-grinspan Ana Mingorance on SYNGAP1 and #EscapeVelocity https://www.draccon.com/dracaena-report/aes2022 Dr. Dennis Lal on AES & Genetics https://twitter.com/LalDennis/status/1600617199110070286 Mike’s Talk at AES https://twitter.com/LouisTDang/status/1598753675714887684 https://twitter.com/IDreamofGenes/status/1598753872172191745 https://twitter.com/john_oldenhof/status/1598756993073717249 CAMP4 Poster by Ali Al Abdullatif, MsC https://twitter.com/camp4tx/status/1601222388317917186 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 85 of #Syngap10 - December 29, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

December 29, 2022

#ImpatientOptimism is the appropriate feeling for this moment… #S10e84

#InpatientOptimism is the appropriate feeling for this moment… #S10e84 Targeting Epilepsy Meeting at St. Jude: https://www.stjude.org/research/initiatives/pediatric-translational-neuroscience-initiative/targeting-epilepsy-translating-advances-in-research-to-genetic-epilepsy-therapy.html Praxis and PRAX-562 for #SCN2A and #SCN8A https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-advance-prax-562-phase-2-study Go Team Canada and Overcome for Bowie Small Molecule Grant! https://www.eurekalert.org/news-releases/960181 https://twitter.com/cureSYNGAP1/status/1597268138793762817?s=20&t=g1cxR6D2qqzIp-6-q6sY3g John Oldenhof, an #STXBP1 dad talks about two key points. https://www.biopharmaservices.com/blog/research-roundtable-for-epilepsy-a-reflection-by-dr-john-oldenhof/ #S10e83 on Stoke and TimeOnDrug https://www.youtube.com/watch?v=7uK2dCs53Ew #GivingTuesday - Support SRF! https://secure.givelively.org/donate/syngap-research-fund-incorporated/givingtuesday-2022 Genomenon: https://www.streetinsider.com/Press+Releases/Genomenon+Partners+with+Three+Rare+Disease+Foundations+to+Advance+Precision+Drug+Development/20904631.html Combined Brain: https://combinedbrain.org/ Thank you Heather and Spark! https://sparkforautism.org/discover_article/autism-answers-research/ https://twitter.com/cureSYNGAP1/status/1597348804021583872?s=20&t=g1cxR6D2qqzIp-6-q6sY3g This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 84 of #Syngap10 - November 29, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

November 30, 2022

#ImpatientOptimism is the appropriate feeling for this moment… #S10e84

#ImpatientOptimism is the appropriate feeling for this moment… #S10e84 Targeting Epilepsy Meeting at St. Jude: https://www.stjude.org/research/initiatives/pediatric-translational-neuroscience-initiative/targeting-epilepsy-translating-advances-in-research-to-genetic-epilepsy-therapy.html Praxis and PRAX-562 for #SCN2A and #SCN8A https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-advance-prax-562-phase-2-study Go Team Canada and Overcome for Bowie Small Molecule Grant!https://www.eurekalert.org/news-releases/960181 https://twitter.com/cureSYNGAP1/status/1597268138793762817?s=20&t=g1cxR6D2qqzIp-6-q6sY3g John Oldenhof, an #STXBP1 dad talks about two key points.https://www.biopharmaservices.com/blog/research-roundtable-for-epilepsy-a-reflection-by-dr-john-oldenhof/ #S10e83 on Stoke and TimeOnDrughttps://www.youtube.com/watch?v=7uK2dCs53Ew #GivingTuesday - Support SRF! https://secure.givelively.org/donate/syngap-research-fund-incorporated/givingtuesday-2022 Genomenon:https://www.streetinsider.com/Press+Releases/Genomenon+Partners+with+Three+Rare+Disease+Foundations+to+Advance+Precision+Drug+Development/20904631.html Combined Brain:https://combinedbrain.org/ Thank you Heather and Spark!https://sparkforautism.org/discover_article/autism-answers-research/ https://twitter.com/cureSYNGAP1/status/1597348804021583872?s=20&t=g1cxR6D2qqzIp-6-q6sY3g This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 84 of #Syngap10 - November 29, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

November 30, 2022

#StokeTx just showed us the future & will open the SYNGAP1 meeting #S10e83

#ASO in episode #S10e80: https://youtu.be/xeo94GViXiw?t=240 I am #StokedAboutStoke BW Press Release with Link to their presentation: https://www.businesswire.com/news/home/20221114005268/en/Stoke-Therapeutics-Reports-Third-Quarter-Financial-Results-and-Provides-Business-Updates Stoke announced partnership with Acadia in Episode 43 of Syngap10… https://www.youtube.com/watch?v=jElXobgYfCQ Register for our meeting on December 1 in Nashville: https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path Further reading: - STOK Stock https://www.google.com/finance/quote/STOK:NASDAQ?window=1M - Recent paper on ASOs: https://www.karger.com/Article/Pdf/517686 - Dr. Kimberly Parkerson of Stoke Therapeutics offers an update on their BUTTERFLY observational study as well as their MONARCH and SWALLOWTAIL studies https://www.youtube.com/watch?v=xHCYFDSwf-o This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 83 of #Syngap10 - November 22, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

November 22, 2022

#StokeTx just showed us the future & will open the SYNGAP1 meeting #S10e83

I am #StokedAboutStoke BW Press Release with Link to their presentation: https://www.businesswire.com/news/home/20221114005268/en/Stoke-Therapeutics-Reports-Third-Quarter-Financial-Results-and-Provides-Business-Updates Stoke announced partnership with Acadia in Episode 43 of Syngap10… https://www.youtube.com/watch?v=jElXobgYfCQ Register for our meeting on December 1 in Nashville: https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path Further reading: STOK Stock https://www.google.com/finance/quote/STOK:NASDAQ?window=1M Recent paper on ASOs: https://www.karger.com/Article/Pdf/517686 Dr. Kimberly Parkerson of Stoke Therapeutics offers an update on their BUTTERFLY observational study as well as their MONARCH and SWALLOWTAIL studies https://www.youtube.com/watch?v=xHCYFDSwf-o This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 83 of #Syngap10 - November 22, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

November 22, 2022

Soiree: incredible, Boston: Fabulous & two todos before SYNGP-A-PALOOZA ‘22, NASHVILLE #S10e82

ATLANTA was an incredible event and a success for more reasons than you think - Check out this video: https://www.youtube.com/watch?v=NEEob7CzlfY - Family connection is everything - Raised funds from Atlanta community, it’s us folks. Real but not True: https://www.psychologytoday.com/us/blog/finding-true-refuge/201702/real-not-true BOSTON dinner, last night, was magical too. Check out this video: https://www.facebook.com/634352803/videos/512400737470459/ You have a WEEK to do RARE-X! Data to be shared at our meeting. https://syngap1.rare-x.org/ They will pull the data on Nov. 25th. Send Summer a photo: [email protected] Today! Stoke Update on STK-001 Phase 1/2a studies https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-host-webinar-and-conference-call-present PMC 11/14-15 https://www.personalizedmedicinecoalition.org/events/Events/Personalized_Medicine_and_the_Patient 188+ Medical Records Matter: Sign up for CIITIZEN: https://www.ciitizen.com/syngap1/ SYNGAP1 ANNUAL MEETING aka “SYNGAP-A-PALOOZA” NASHVILLE 12/1 & 2 https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path 8-8:30 WELCOME AND BREAKFAST - Lauren 8:30-10:45 SYNGAP1 CAREGIVERS: REALITY, RESILIENCE AND RESOURCES - Becky Sansbury & Nancy Kessler 11:00-12:00 REGISTRIES - Invitae, Simons, Rare-X w/Q&A 12:00-12:30 LUNCH 12:30-1:15 GETTING CLINICAL TRIAL READY - Kathie Bishop, Acadia 1:30-1:55 PRAXIS - Title TBD 1:55-2:40 TAKING ON BEHAVIORS - Jackie Kancir 2:40-3:10 MORE OF EVERYTHING BOOK LAUNCH - JR 3:25-3:50 SRF LATIN AMERICA - FONDO DE INVESTIGATION SYNGAP - Vicky Arteaga 3:50-4:35 SRF YEAR IN REVIEW - Rebecca Kohlhepp, Peter Hallburton, Pavel Gerovich 4:35-5:00 LOOKING TO THE FUTURE - Mike Graglia 6:30-8:30 Community Dinner @ Deacon's New South JOIN US - 12/1 RECEPTION: https://www.eventbrite.com/e/rare-advocate-reception-tickets-446184007377 JOIN US - 12/2 DINNER: https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-caregiver-dinner This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 80 of Syngap10 - November 10, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

November 14, 2022

Soiree: Incredible, Boston: Fabulous; & two to-dos before SYNGP-A-PALOOZA ‘22, NASHVILLE #S10e82

Soiree: incredible, Boston: Fabulous & two todos before SYNGP-A-PALOOZA ‘22, NASHVILLE #S10e82 ATLANTA was an incredible event and a success for more reasons than you think - Check out this video: https://www.youtube.com/watch?v=NEEob7CzlfY - Family connection is everything - Raised funds from Atlanta community, it’s us folks. Real but not True: https://www.psychologytoday.com/us/blog/finding-true-refuge/201702/real-not-true BOSTON dinner, last night, was magical too. Check out this video: https://www.facebook.com/634352803/videos/512400737470459/ You have a WEEK to do RARE-X! Data to be shared at our meeting. https://syngap1.rare-x.org/ They will pull the data on Nov. 25th.Send Summer a photo: [email protected] Today! Stoke Update on STK-001 Phase 1/2a studies https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-host-webinar-and-conference-call-present PMC 11/14-15 https://www.personalizedmedicinecoalition.org/events/Events/Personalized_Medicine_and_the_Patient 188+ Medical Records Matter: Sign up for CIITIZEN: https://www.ciitizen.com/syngap1/ SYNGAP1 ANNUAL MEETING aka “SYNGAP-A-PALOOZA” NASHVILLE 12/1 & 2 https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path 8-8:30 WELCOME AND BREAKFAST - Lauren 8:30-10:45 SYNGAP1 CAREGIVERS: REALITY, RESILIENCE AND RESOURCES - Becky Sansbury & Nancy Kessler11:00-12:00 REGISTRIES - Invitae, Simons, Rare-X w/Q&A12:00-12:30 LUNCH12:30-1:15 GETTING CLINICAL TRIAL READY - Kathie Bishop, Acadia 1:30-1:55 PRAXIS - Title TBD1:55-2:40 TAKING ON BEHAVIORS - Jackie Kancir2:40-3:10 MORE OF EVERYTHING BOOK LAUNCH - JR3:25-3:50 SRF LATIN AMERICA - FONDO DE INVESTIGATION SYNGAP - Vicky Arteaga3:50-4:35 SRF YEAR IN REVIEW - Rebecca Kohlhepp, Peter Hallburton, Pavel Gerovich4:35-5:00 LOOKING TO THE FUTURE - Mike Graglia6:30-8:30 Community Dinner @ Deacon's New South JOIN US - 12/1 RECEPTION: https://www.eventbrite.com/e/rare-advocate-reception-tickets-446184007377 JOIN US - 12/2 DINNER:https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-caregiver-dinner This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 80 of Syngap10 - November 10, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

November 14, 2022

SYNGAP-A-PALOOZA ‘22, NASHVILLE & a bit more on ASOs #S10e81

ATLANTA: 11/12 https://cbo.io/bidapp/index.php?slug=syngap Stoke Update on STK-001 Phase 1/2a studies https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-host-webinar-and-conference-call-present PMC 11/14-15 https://www.personalizedmedicinecoalition.org/events/Events/Personalized_Medicine_and_the_Patient 188+ Medical Records Matter: Sign up for CIITIZEN: https://www.ciitizen.com/syngap1/ SYNGAP1 ANNUAL MEETING aka “SYNGAP-A-PALOOZA” NASHVILLE 12/1 & 2 https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path 8-8:30 WELCOME AND BREAKFAST - Lauren 8:30-10:45 SYNGAP1 CAREGIVERS: REALITY, RESILIENCE AND RESOURCES - Becky Sansbury & Nancy Kessler11:00-12:00 REGISTRIES - Invitae, Simons, Rare-X w/Q&A12:00-12:30 LUNCH12:30-1:15 GETTING CLINICAL TRIAL READY - Kathie Bishop, Acadia 1:30-1:55 PRAXIS - Title TBD1:55-2:40 TAKING ON BEHAVIORS - Jackie Kancir2:40-3:10 MORE OF EVERYTHING BOOK LAUNCH - JR3:25-3:50 SRF LATIN AMERICA - FONDO DE INVESTIGATION SYNGAP - Vicky Arteaga3:50-4:35 SRF YEAR IN REVIEW - Rebecca Kohlhepp, Peter Hallburton, Pavel Gerovich4:35-5:00 LOOKING TO THE FUTURE - Mike Graglia6:30-8:30 Community Dinner @ Deacon's New South JOIN US - 12/1 RECEPTION: https://www.eventbrite.com/e/rare-advocate-reception-tickets-446184007377 JOIN US - 12/2 DINNER:https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-caregiver-dinner GENETIC THERAPY UPDATES #S10e80 https://youtu.be/xeo94GViXiw :-) https://www.nytimes.com/2022/11/09/health/pompe-disease-treatment.html :-/ http://www.cureffi.org/2022/11/01/asos-hydrocephalus/“we are working to develop an ASO against PRNP as a therapy for prion disease… Overall, it’s hard to know whether there exists an association between nusinersen and hydrocephalus; if there is, the effect size is not huge and the frequency appears low. No patients appear to have died from it. I don’t believe that the tragic results reported for valeriasen should hold us back from bringing a prion disease ASO into trials. But, this is one more reminder that clinical trials are experiments, and the first-in-human dose of a drug is really the starting line and not the finish line.” SMA: THREE DRUGS! BIG Pipeline. https://www.curesma.org/sma-drug-pipeline/ Angelman Trials: 3 recruiting. https://clinicaltrials.gov/ct2/results?cond=Angelman+Syndrome&term=&cntry=&state=&city=&dist= Dravet Trails, 7 recruiting, 1 is ASO with Stoke. https://clinicaltrials.gov/ct2/results?cond=Dravet+Syndrome&Search=Apply&recrs=a&age_v=&gndr=&type=&rslt= CANNONBALL 2.0 - $156,802 Listen to the Radio interview! https://www.syngapresearchfund.org/cannonball This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 80 of Syngap10 - November 10, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

November 10, 2022

SYNGAP-A-PALOOZA ‘22, NASHVILLE & a bit more on ASOs #S10e81

ATLANTA: 11/12 https://cbo.io/bidapp/index.php?slug=syngap Stoke Update on STK-001 Phase 1/2a studies https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-host-webinar-and-conference-call-present PMC 11/14-15 https://www.personalizedmedicinecoalition.org/events/Events/Personalized_Medicine_and_the_Patient 188+ Medical Records Matter: Sign up for CIITIZEN: https://www.ciitizen.com/syngap1/ SYNGAP1 ANNUAL MEETING aka “SYNGAP-A-PALOOZA” NASHVILLE 12/1 & 2 https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path 8-8:30 WELCOME AND BREAKFAST - Lauren 8:30-10:45 SYNGAP1 CAREGIVERS: REALITY, RESILIENCE AND RESOURCES - Becky Sansbury & Nancy Kessler 11:00-12:00 REGISTRIES - Invitae, Simons, Rare-X w/Q&A 12:00-12:30 LUNCH 12:30-1:15 GETTING CLINICAL TRIAL READY - Kathie Bishop, Acadia 1:30-1:55 PRAXIS - Title TBD 1:55-2:40 TAKING ON BEHAVIORS - Jackie Kancir 2:40-3:10 MORE OF EVERYTHING BOOK LAUNCH - JR 3:25-3:50 SRF LATIN AMERICA - FONDO DE INVESTIGATION SYNGAP - Vicky Arteaga 3:50-4:35 SRF YEAR IN REVIEW - Rebecca Kohlhepp, Peter Hallburton, Pavel Gerovich 4:35-5:00 LOOKING TO THE FUTURE - Mike Graglia 6:30-8:30 Community Dinner @ Deacon's New South JOIN US - 12/1 RECEPTION: https://www.eventbrite.com/e/rare-advocate-reception-tickets-446184007377 JOIN US - 12/2 DINNER: https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-caregiver-dinner GENETIC THERAPY UPDATES #S10e80 https://youtu.be/xeo94GViXiw :-) https://www.nytimes.com/2022/11/09/health/pompe-disease-treatment.html :-/ http://www.cureffi.org/2022/11/01/asos-hydrocephalus/ “we are working to develop an ASO against PRNP as a therapy for prion disease… Overall, it’s hard to know whether there exists an association between nusinersen and hydrocephalus; if there is, the effect size is not huge and the frequency appears low. No patients appear to have died from it. I don’t believe that the tragic results reported for valeriasen should hold us back from bringing a prion disease ASO into trials. But, this is one more reminder that clinical trials are experiments, and the first-in-human dose of a drug is really the starting line and not the finish line.” SMA: THREE DRUGS! BIG Pipeline. https://www.curesma.org/sma-drug-pipeline/ Angelman Trials: 3 recruiting. https://clinicaltrials.gov/ct2/results?cond=Angelman+Syndrome&term=&cntry=&state=&city=&dist= Dravet Trails, 7 recruiting, 1 is ASO with Stoke. https://clinicaltrials.gov/ct2/results?cond=Dravet+Syndrome&Search=Apply&recrs=a&age_v=&gndr=&type=&rslt= CANNONBALL 2.0 - $156,802 Listen to the Radio interview! https://www.syngapresearchfund.org/cannonball This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 80 of Syngap10 - November 10, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

November 10, 2022

ASOs in the news, let’s discuss in Nashville! #S10e80

Medical Records Matter: Sign up for CIITIZEN: https://www.ciitizen.com/syngap1/ Thx Alok: https://twitter.com/aloktayi/status/1587093289156517888 CANNONBALL 2.0 - $156,802 Press: https://www.cnbc.com/2022/10/29/dads-road-trip-for-syngap1-raised-150000-for-rare-genetic-disease-.html Total: https://www.justgiving.com/fundraising/ufd-cftc-2022 Tweet: https://twitter.com/UFDTech/status/1585640994652889089 Interview with Prosser: www.youtube.com/watch?v=gFLEj_Uq1k8 Interview with Rarebase: https://www.youtube.com/watch?v=HuUjJ7XyXhU #S10e79 https://www.youtube.com/watch?v=VDTwnaq9qIU FOUR EVENTS LA: 11/1: https://epilepsyawarenessday.org/event-info/information/ ATLANTA: 11/12 https://cbo.io/bidapp/index.php?slug=syngap BOSTON: 11/13 Call Sandy. NASHVILLE 12/1 https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path RECEPTION: https://www.eventbrite.com/e/rare-advocate-reception-tickets-446184007377 Another incidence paper! Thanks Maddie Gillentine, PhD: https://twitter.com/maddieag/status/1586421844566908928 4/100 number: https://twitter.com/maddieag/status/1586422427076022273 ASOs ASO 101 - 12 minute mark: https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides Sad news KCNT1 News: https://twitter.com/cureSYNGAP1/status/1585613781467484160Response: https://twitter.com/KCNT1_Epilepsy/status/1585616246132936705 Trials are afoot: Dravet with Stoke: https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-presents-data-phase-12a-monarch-study-stk-001 Angelman: https://www.tandfonline.com/doi/full/10.1080/13543784.2021.1939674 Minor Miracle - Milasen - https://www.wired.co.uk/article/milasen-aso-gene-therapy This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 80 of Syngap10 - October 31, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

October 31, 2022

ASOs in the news, let’s discuss in Nashville! #S10e80

Medical Records Matter: Sign up for CIITIZEN: https://www.ciitizen.com/syngap1/ Thx Alok: https://twitter.com/aloktayi/status/1587093289156517888 CANNONBALL 2.0 - $156,802 Press: https://www.cnbc.com/2022/10/29/dads-road-trip-for-syngap1-raised-150000-for-rare-genetic-disease-.html Total: https://www.justgiving.com/fundraising/ufd-cftc-2022 Tweet: https://twitter.com/UFDTech/status/1585640994652889089 Interview with Prosser: www.youtube.com/watch?v=gFLEj_Uq1k8 Interview with Rarebase: https://www.youtube.com/watch?v=HuUjJ7XyXhU #S10e79 https://www.youtube.com/watch?v=VDTwnaq9qIU FOUR EVENTS LA: 11/1: https://epilepsyawarenessday.org/event-info/information/ ATLANTA: 11/12 https://cbo.io/bidapp/index.php?slug=syngap BOSTON: 11/13 Call Sandy. NASHVILLE 12/1 https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path RECEPTION: https://www.eventbrite.com/e/rare-advocate-reception-tickets-446184007377 Another incidence paper! Thanks Maddie Gillentine, PhD: https://twitter.com/maddieag/status/1586421844566908928 4/100 number: https://twitter.com/maddieag/status/1586422427076022273 ASOs ASO 101 - 12 minute mark: https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides Sad news KCNT1 News: https://twitter.com/cureSYNGAP1/status/1585613781467484160 Response: https://twitter.com/KCNT1_Epilepsy/status/1585616246132936705 Trials are afoot: Dravet with Stoke: https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-presents-data-phase-12a-monarch-study-stk-001 Angelman: https://www.tandfonline.com/doi/full/10.1080/13543784.2021.1939674 Minor Miracle - Milasen - https://www.wired.co.uk/article/milasen-aso-gene-therapy This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 80 of Syngap10 - October 31, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

October 31, 2022

#UFDcure CANNONBALL2 is a wrap/half done. #S10e79

#UFDcure CANNONBALL2 is a wrap/half done. #S10e79 CANNONBALL! Donate now, it’s matched: https://www.justgiving.com/fundraising/ufd-cftc-2022 Brett talking about CB2 https://www.youtube.com/watch?v=2Wb0RO74UIo UPenn interview https://www.youtube.com/watch?v=gFLEj_Uq1k8 Twitch: https://www.twitch.tv/ufdisciple Brett: https://twitter.com/UFDTech Peter: https://twitter.com/phalliburton Kevin: https://fryereeves.com/kevin-w-frye/ VISITS Pavel: https://twitter.com/SydneyStel/status/1584233335554854915/photo/2 Sydney: https://twitter.com/SydneyStel/status/1583079166014263296?s=20&t=YGu_OlFePZ5_jEhZvMj97g Rebecca: https://twitter.com/SydneyStel/status/1584233335554854915/photo/3 Virginie: https://twitter.com/McNamarVirginie/status/1583871153231183872?s=20&t=YGu_OlFePZ5_jEhZvMj97g Lauren: https://twitter.com/UFDTech/status/1584003603463045120?s=20&t=YGu_OlFePZ5_jEhZvMj97g RAREBASE https://www.rarebase.org/ AMAZING PRESS TV - CBS - NY https://www.cbsnews.com/newyork/news/dads-take-dares-for-donations-on-cross-country-road-trip-raising-money-for-syngap1-research/ FORBES https://www.forbes.com/sites/billroberson/2022/10/21/electric-cannonball-run-dads-drive-a-tesla-model-y-cross-country-to-fight-a-disease-affecting-their-sons/ FOX https://www.foxnews.com/us/dads-drive-across-country-expand-awareness-kids-rare-disease TONY https://threadreaderapp.com/thread/1582766217810493441.html UPCOMING EVENTS NOVEMBER IS GIVING SEASON! 3 Weeks: - November 12 in GA - Sparks of Hope Gala https://cbo.io/bidapp/index.php?slug=syngap - November 14-15 in MA - PMC summit titled Personalized Medicine and the Patient 6 Weeks: December 1&2 in TN - SYNGAP1 CONFERENCE 2022: Charting our rare disease treatment path https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 79 of Syngap10 - October 23, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

October 25, 2022

#UFDcure CANNONBALL2 is a wrap/half done. #S10e79

CANNONBALL! Donate now, it’s matched: https://www.justgiving.com/fundraising/ufd-cftc-2022 Brett talking about CB2 https://www.youtube.com/watch?v=2Wb0RO74UIoUPenn interview https://www.youtube.com/watch?v=gFLEj_Uq1k8 Twitch: https://www.twitch.tv/ufdisciple Brett: https://twitter.com/UFDTechPeter: https://twitter.com/phalliburton Kevin: https://fryereeves.com/kevin-w-frye/ VISITS Pavel: https://twitter.com/SydneyStel/status/1584233335554854915/photo/2 Sydney: https://twitter.com/SydneyStel/status/1583079166014263296?s=20&t=YGu_OlFePZ5_jEhZvMj97g Rebecca: https://twitter.com/SydneyStel/status/1584233335554854915/photo/3 Virginie: https://twitter.com/McNamarVirginie/status/1583871153231183872?s=20&t=YGu_OlFePZ5_jEhZvMj97g Lauren: https://twitter.com/UFDTech/status/1584003603463045120?s=20&t=YGu_OlFePZ5_jEhZvMj97g RAREBASE https://www.rarebase.org/ AMAZING PRESS TV - CBS - NYhttps://www.cbsnews.com/newyork/news/dads-take-dares-for-donations-on-cross-country-road-trip-raising-money-for-syngap1-research/ FORBES https://www.forbes.com/sites/billroberson/2022/10/21/electric-cannonball-run-dads-drive-a-tesla-model-y-cross-country-to-fight-a-disease-affecting-their-sons/ FOXhttps://www.foxnews.com/us/dads-drive-across-country-expand-awareness-kids-rare-disease TONYhttps://threadreaderapp.com/thread/1582766217810493441.html UPCOMING EVENTS NOVEMBER IS GIVING SEASON! 3 Weeks: - November 12 in GA - Sparks of Hope Gala https://cbo.io/bidapp/index.php?slug=syngap - November 14-15 in MA - PMC summit titled Personalized Medicine and the Patient 6 Weeks: December 1&2 in TN - SYNGAP1 CONFERENCE 2022: Charting our rare disease treatment path https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 79 of Syngap10 - October 23, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

October 24, 2022

Event recaps with special guest hosts #S10e78

EVENT RECAPS October 8th -New Jersey - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - South Carolina - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap UPCOMING EVENTS 8 Days: - October 21 #UFDcure Cannonball 2.0 https://www.syngapresearchfund.org/cannonball #CannonballForTheCure #RareBase NOVEMBER IS GIVING SEASON! 4 Weeks: - November 12 in GA - Sparks of Hope Gala https://cbo.io/bidapp/index.php?slug=syngap - November 14-15 in MA - PMC summit titled Personalized Medicine and the Patient 7 Weeks: December 1&2 in TN - SYNGAP1 CONFERENCE 2022: Charting our rare disease treatment path https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 78 of Syngap10 - October 13, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

October 13, 2022

Event recaps with special guest hosts #S10e78

EVENT RECAPS October 8th-New Jersey - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - South Carolina - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap UPCOMING EVENTS 8 Days: - October 21 #UFDcure Cannonball 2.0 https://www.syngapresearchfund.org/cannonball #CannonballForTheCure #RareBase NOVEMBER IS GIVING SEASON! 4 Weeks: - November 12 in GA - Sparks of Hope Gala https://cbo.io/bidapp/index.php?slug=syngap - November 14-15 in MA - PMC summit titled Personalized Medicine and the Patient 7 Weeks: December 1&2 in TN - SYNGAP1 CONFERENCE 2022: Charting our rare disease treatment path https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 78 of Syngap10 - October 13, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

October 13, 2022

SYNGAP1 News: Boston Trip Report, Precision Neuroscience Summit and Relentless Progress. #S10e77

INCREDIBLE MEETING, THANK YOU GC FOR THE HOSPITALITY!https://www.linkedin.com/feed/update/urn:li:activity:6982842796319657984https://www.forbes.com/sites/greglicholai/2022/10/03/renaissance-in-precision-neuroscience-expected/?sh=61d48fa0c8a3 GRANT ALERTColler mRNA Work at Hopkins https://www.eurekalert.org/news-releases/966873 COMPANY UPDATEStoke Tx https://www.stoketherapeutics.com/ Praxis Medicine https://praxismedicines.com/ Rarebase https://www.rarebase.org/ Beacon Biosignals https://beacon.bio/Jaxon Labs - 2 Mice in Progress. https://secure.givelively.org/donate/syngap-research-fund-incorporated/patient-derived-mice-models-at-jax Ionis - See Prosser Webinar! (Webinar 63) https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides https://www.syngapresearchfund.org/post/unite-to-bike-syngap-research-fund-rides-in-person-at-the-million-dollar-bike-ride Tevard https://tevard.com/ EVERY PATIENT MATTERSCensus is now at 1,135 Patients. https://www.syngapresearchfund.org/post/123-syngapcensus-2022-update-37-in-q3-2022 https://twitter.com/cureSYNGAP1/status/1576246751974944768 GLOBAL FILESRF Site is now in all Languages!Colombia/LatAmerica 🇨🇴- Vicky is amazing hosting a dinner at https://simposio.acmgen.org/ see - https://twitter.com/JMGraglia/status/1577319370081980416 - https://www.linkedin.com/posts/graglia_syngap1-activity-6983238494441672704-4ihv EVENTS ARE COMINGNEXT WEEK on October 8th!New Jersey - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala South Carolina - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngapNews Report: https://www.youtube.com/watch?v=a7sBTkL5KLo 2 Weeks: October 12-15 in OH - Child Neurology Society 3 Weeks: October 21 #UFDcure Cannonball 2.0 https://www.syngapresearchfund.org/cannonball #CannonballForTheCure #RareBase NOVEMBER IS GIVING SEASON! 6 Weeks: November 12 in GA - Sparks of Hope Gala https://cbo.io/bidapp/index.php?slug=syngap November 14-15 in MA - PMC summit titled Personalized Medicine and the Patient 8 Weeks: December 1 in TN - Syngap Science Meeting - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path etc. This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 77 of Syngap10 - October 4, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

October 5, 2022

SYNGAP1 News: Boston Trip Report, Precision Neuroscience Summit and Relentless Progress. #S10e77

INCREDIBLE MEETING, THANK YOU GC FOR THE HOSPITALITY! https://www.linkedin.com/feed/update/urn:li:activity:6982842796319657984 https://www.forbes.com/sites/greglicholai/2022/10/03/renaissance-in-precision-neuroscience-expected/?sh=61d48fa0c8a3 GRANT ALERT Coller mRNA Work at Hopkins https://www.eurekalert.org/news-releases/966873 COMPANY UPDATE Stoke Tx https://www.stoketherapeutics.com/ Praxis Medicine https://praxismedicines.com/ Rarebase https://www.rarebase.org/ Beacon Biosignals https://beacon.bio/ Jaxon Labs - 2 Mice in Progress. https://secure.givelively.org/donate/syngap-research-fund-incorporated/patient-derived-mice-models-at-jax Ionis - See Prosser Webinar! (Webinar 63) https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides https://www.syngapresearchfund.org/post/unite-to-bike-syngap-research-fund-rides-in-person-at-the-million-dollar-bike-ride Tevard https://tevard.com/ EVERY PATIENT MATTERS Census is now at 1,135 Patients. https://www.syngapresearchfund.org/post/123-syngapcensus-2022-update-37-in-q3-2022 https://twitter.com/cureSYNGAP1/status/1576246751974944768 GLOBAL FILE SRF Site is now in all Languages! Colombia/LatAmerica 🇨🇴- Vicky is amazing hosting a dinner at https://simposio.acmgen.org/ see - https://twitter.com/JMGraglia/status/1577319370081980416 - https://www.linkedin.com/posts/graglia_syngap1-activity-6983238494441672704-4ihv EVENTS ARE COMING NEXT WEEK on October 8th! New Jersey - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala South Carolina - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap News Report: https://www.youtube.com/watch?v=a7sBTkL5KLo 2 Weeks: October 12-15 in OH - Child Neurology Society 3 Weeks: October 21 #UFDcure Cannonball 2.0 https://www.syngapresearchfund.org/cannonball #CannonballForTheCure #RareBase NOVEMBER IS GIVING SEASON! 6 Weeks: November 12 in GA - Sparks of Hope Gala https://cbo.io/bidapp/index.php?slug=syngap November 14-15 in MA - PMC summit titled Personalized Medicine and the Patient 8 Weeks: December 1 in TN - Syngap Science Meeting - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path etc. This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 77 of Syngap10 - October 4, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

October 5, 2022

Every Patient Matters. Global Edition: SRF touching Ukraine/Poland 🇺🇦🇵🇱, Greece 🇬🇷, Colombia/LatAmerica 🇨🇴, Netherlands 🇳🇱 & UK 🇬🇧… #S10e76

EVERY PATIENT MATTERS Lots of work with doctors these days. e.g. Tony: DOI: 10.1159/000492706 https://www.karger.com/Article/FullText/492706 e.g. Jaxon: https://www.syngapresearchfund.org/post/syngap1-frequent-de-novo-missense-variant-alert-study-opportunity-for-p-gly344 WE ARE GLOBAL SRF Site is now in all Languages! Ukraine/Poland 🇺🇦🇵🇱- https://www.syngapresearchfund.org/post/122-a-letter-of-thanks-from-a-ukrainian-syngap-family #S10e72 Greece 🇬🇷- Greek framily from #S10e72 now working with expert in Spain. Thank you Dr. Aledo! Colombia/LatAmerica 🇨🇴- Vicky is amazing. https://simposio.acmgen.org/ Netherlands 🇳🇱- We have a Rare-X Platform and everyone should engage. Sign up at https://www.syngapresearchfund.org/webinars/intro-to-rare-xs-syngap1-data-collection-program Watch #S10e71 starting at 5:30 https://youtu.be/iPoOjKBwPfY?t=333 Sign up: https://syngap1.rare-x.org/ UK 🇬🇧- News coming. EVENTS ARE COMING 2 Weeks on October 8th! New Jersey - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala South Carolina - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap 3 Weeks: October 12-15 in OH - Child Neurology Society 4 Weeks: October 21 #UFDcure Cannonball 2.0 https://www.syngapresearchfund.org/cannonball #CannonballForTheCure #RareBase NOVEMBER IS GIVING SEASON! 7 Weeks: November 12 in GA - Sparks of Hope Gala https://cbo.io/bidapp/index.php?slug=syngap November 14-15 in MA - PMC summit titled Personalized Medicine and the Patient 10 Weeks: December 1 in TN - Syngap Science Meeting - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 76 of Syngap10 - September 25, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

September 26, 2022

Every Patient Matters. Global Edition: SRF touching Ukraine/Poland 🇺🇦🇵🇱, Greece 🇬🇷, Colombia/LatAmerica 🇨🇴, Netherlands 🇳🇱 & UK 🇬🇧… #S10e76

EVERY PATIENT MATTERS Lots of work with doctors these days.e.g. Tony: DOI: 10.1159/000492706 https://www.karger.com/Article/FullText/492706 e.g. Jaxon: https://www.syngapresearchfund.org/post/syngap1-frequent-de-novo-missense-variant-alert-study-opportunity-for-p-gly344 WE ARE GLOBAL SRF Site is now in all Languages! Ukraine/Poland 🇺🇦🇵🇱- https://www.syngapresearchfund.org/post/122-a-letter-of-thanks-from-a-ukrainian-syngap-family #S10e72Greece 🇬🇷- Greek framily from #S10e72 now working with expert in Spain. Thank you Dr. Aledo!Colombia/LatAmerica 🇨🇴- Vicky is amazing. https://simposio.acmgen.org/ Netherlands 🇳🇱- We have a Rare-X Platform and everyone should engage. Sign up at https://www.syngapresearchfund.org/webinars/intro-to-rare-xs-syngap1-data-collection-program Watch #S10e71 starting at 5:30 https://youtu.be/iPoOjKBwPfY?t=333 Sign up: https://syngap1.rare-x.org/ UK 🇬🇧- News coming. EVENTS ARE COMING 2 Weeks on October 8th!New Jersey - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala South Carolina - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap 3 Weeks: October 12-15 in OH - Child Neurology Society 4 Weeks: October 21 #UFDcure Cannonball 2.0 https://www.syngapresearchfund.org/cannonball #CannonballForTheCure #RareBase NOVEMBER IS GIVING SEASON! 7 Weeks: November 12 in GA - Sparks of Hope Gala https://cbo.io/bidapp/index.php?slug=syngap November 14-15 in MA - PMC summit titled Personalized Medicine and the Patient 10 Weeks: December 1 in TN - Syngap Science Meeting - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 76 of Syngap10 - September 25, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

September 26, 2022

We 💜Events, Drugs 💊 Rarebase & NOSpharma, Data 👩🏾‍💻 Simons & Invitae #S10e75

GLOBAL GENES WAS GREAT Panel was impressive, will be sharing when recording is live, one point was small molecules… #GlobalGenes #CareAboutRare EVENTS ARE COMING 3 weeks! October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap 8 weeks! November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree 11 weeks! December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat RAREBASE Talked about this in #s10e27 https://youtu.be/r3bS9YepQ4s We are investing in small molecule repurposing as fast as we can. Four lines… Cannonball 2.0 is on! Checkout UFDtech on 21 October 2022! LINK#UFDtech #CannonballForTheCure #RareBase NOSPHARMA Talked about Bowie in #s10e69 https://www.youtube.com/watch?v=xl_r4hoDlf8 Nospharma leverages unique biological causes of brain disorders within the context of what is already known, to deliver effective treatments. By placing biology-first, we've created new drugs and repurposed on-the-market drugs to improve treatment success. We aim to deliver the most effective therapeutics for some of the most severe brain disorders, as quickly as possible. …from https://www.linkedin.com/company/nospharma/ #NOSpharma SIMONS/INVITAE PARTNERSHIP Two of the most important players in the Rare Epilepsy Ecosystem are partnering and it’s great news for SYNGAP1 and SRF. https://www.prnewswire.com/news-releases/invitae-and-simons-searchlight-partner-to-accelerate-research-through-data-sharing-301621469.html Tweet: https://twitter.com/cureSYNGAP1/status/1569326298790789122 #SimonsFoundation #Autism #Invitae #ciitizen Satterstrom paper associates SYNGAP1 with Autism strongly https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250485/ See figure 2B https://pubmed.ncbi.nlm.nih.gov/31981491/#&gid=article-figures&pid=figure-2-uid-1 AUTISM BRAIN NETWORK Webinar: https://www.syngapresearchfund.org/webinars/an-introduction-to-autism-brainnet Site: https://www.autismbrainnet.org/ etc. This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 75 of Syngap10 - September 18, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

September 18, 2022

We 💜Events, Drugs 💊 Rarebase & NOSpharma, Data 👩🏾‍💻 Simons & Invitae #S10e75

GLOBAL GENES WAS GREAT Panel was impressive, will be sharing when recording is live, one point was small molecules…#GlobalGenes #CareAboutRareEVENTS ARE COMING 3 weeks! October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap 8 weeks!November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree 11 weeks!December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat RAREBASE Talked about this in #s10e27 https://youtu.be/r3bS9YepQ4s We are investing in small molecule repurposing as fast as we can. Four lines… Cannonball 2.0 is on! Checkout UFDtech on 21 October 2022! LINK#UFDtech #CannonballForTheCure #RareBase NOSPHARMA Talked about Bowie in #s10e69 https://www.youtube.com/watch?v=xl_r4hoDlf8 Nospharma leverages unique biological causes of brain disorders within the context of what is already known, to deliver effective treatments. By placing biology-first, we've created new drugs and repurposed on-the-market drugs to improve treatment success. We aim to deliver the most effective therapeutics for some of the most severe brain disorders, as quickly as possible. …from https://www.linkedin.com/company/nospharma/#NOSpharma SIMONS/INVITAE PARTNERSHIP Two of the most important players in the Rare Epilepsy Ecosystem are partnering and it’s great news for SYNGAP1 and SRF.https://www.prnewswire.com/news-releases/invitae-and-simons-searchlight-partner-to-accelerate-research-through-data-sharing-301621469.html Tweet: https://twitter.com/cureSYNGAP1/status/1569326298790789122 #SimonsFoundation #Autism #Invitae #ciitizen Satterstrom paper associates SYNGAP1 with Autism stronglyhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250485/ See figure 2B https://pubmed.ncbi.nlm.nih.gov/31981491/#&gid=article-figures&pid=figure-2-uid-1 AUTISM BRAIN NETWORK Webinar: https://www.syngapresearchfund.org/webinars/an-introduction-to-autism-brainnet Site: https://www.autismbrainnet.org/ etc. This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 75 of Syngap10 - September 18, 2022 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

September 18, 2022

Praxis + Ciitizen = PROGRESS #S10e74

Praxis + Ciitizen = PROGRESS #S10e74 PRAXIS & CIITIZEN Webinar On-Demand Registration - https://pages.questexinfo.com/invitaereg09082022/ Twitter - https://twitter.com/cureSYNGAP1/status/1568223901628637184?s=20&t=_UdtyirDq-dfLJD9Eo3GPw/ Facebook - https://www.facebook.com/cureSYNGAP1/posts/pfbid02usJYQPSQEr5yrUkhkfmcwhfit6WLgUFK56VXCaEVypCuVvxNb74pnkTiXqgZsdFtl/ LinkedIn - https://www.linkedin.com/feed/update/urn:li:activity:6973995629647720448/ LEON Light a candle for Leon here https://www.bestattung-huettner.at/sterbefall/52048/?action=gedenkkerzen GRANTS So much good news coming. We need to raise more money! Please see list below! GLOBAL GENES IS NEXT WEEK! If you can’t come in person, register virtually! https://globalgenes.org/event/rare-patient-advocacy-summit/ STUFF I DIDN’T TALK ABOUT BUT WILL SOON - Rarebase - EXN ;-) This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 74 of #Syngap10 - September 9, 2022 #GlobalGenes #PRAX090 #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

September 10, 2022

Praxis + Ciitizen = PROGRESS #S10e74

PRAXIS & CIITIZEN Webinar On-Demand Registration - https://pages.questexinfo.com/invitaereg09082022/ Twitter - https://twitter.com/cureSYNGAP1/status/1568223901628637184?s=20&t=_UdtyirDq-dfLJD9Eo3GPw/ Facebook - https://www.facebook.com/cureSYNGAP1/posts/pfbid02usJYQPSQEr5yrUkhkfmcwhfit6WLgUFK56VXCaEVypCuVvxNb74pnkTiXqgZsdFtl/ LinkedIn - https://www.linkedin.com/feed/update/urn:li:activity:6973995629647720448/ LEON Light a candle for Leon here https://www.bestattung-huettner.at/sterbefall/52048/?action=gedenkkerzen GRANTS So much good news coming. We need to raise more money! Please see list below! GLOBAL GENES IS NEXT WEEK! If you can’t come in person, register virtually! https://globalgenes.org/event/rare-patient-advocacy-summit/ STUFF I DIDN’T TALK ABOUT BUT WILL SOON Rarebase EXN ;-) This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 74 of #Syngap10 - September 9, 2022 #GlobalGenes #PRAX090 #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

September 10, 2022

Leon #S10e73

SRF Page on Leon - https://www.syngapresearchfund.org/leon SRF Grant with Leon & Friends - https://www.eurekalert.org/news-releases/957967 Light a candle for Leon - https://www.bestattung-huettner.at/sterbefall/52048/ SRF on Social for Leon - https://www.facebook.com/cureSYNGAP1/posts/pfbid0RqALzmaTh8zGeT1KMUbfiXgv9o7PPR2JJPcZNPpR91ce7tYz5foWmb47652r8c2Ml - https://twitter.com/cureSYNGAP1/status/1564626096640901121 - https://www.linkedin.com/feed/update/urn:li:activity:6970394298483630080 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 73 of #Syngap10 - September 2, 2022 #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

September 2, 2022

Leon #S10e73

SRF Page on Leon - https://www.syngapresearchfund.org/leon SRF Grant with Leon & Friends - https://www.eurekalert.org/news-releases/957967 Light a candle for Leon - https://www.bestattung-huettner.at/sterbefall/52048/ SRF on Social for Leon-https://www.facebook.com/cureSYNGAP1/posts/pfbid0RqALzmaTh8zGeT1KMUbfiXgv9o7PPR2JJPcZNPpR91ce7tYz5foWmb47652r8c2Ml - https://twitter.com/cureSYNGAP1/status/1564626096640901121 - https://www.linkedin.com/feed/update/urn:li:activity:6970394298483630080 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 73 of #Syngap10 - September 2, 2022 #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

September 2, 2022

A day in the life of SRF: Greece, Ukraine, Rarebase, Zempleni #S10e72

0. SUPPORT OUR PATIENT IN UKRAINE Fundraiser: https://secure.givelively.org/donate/syngap-research-fund-incorporated/help-syngap-family-escape-ukraine/ Tweet: https://twitter.com/JMGraglia/status/1563362473327005698 1. LONGBOARD PHARMA & RAREBASE Watch #S10e71 https://www.youtube.com/watch?v=iPoOjKBwPfY 2. SEIZURE TRACKER Watch #S10e70 https://youtu.be/g6R9ejJnYbwMore detail in Webinar64 https://www.syngapresearchfund.org/webinars/64-syngap-study-seizure-tracker 3. WEBINARS PRAXIS & INVITAE - SEPT 8th at 10 PT https://pages.questexinfo.com/invitaereg09082022/?pk=Invitae BEN PROSSER - SEPT 29th at 9 PT https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides 4. COME TO THE CONFERENCE Register: https://Syngap.Fund/Treat Book a room: Link on the registration page. 5. LOTS OF EVENTS TOO! 2 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/ 5 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala 5 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap 10 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree 13 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 72 of #Syngap10 - August 27, 2022 #SalvaUkrani #helpneeded #Stoke #Acadia #CIITIZEN #INVITAE #SEIZURETRACKER #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

August 27, 2022

A day in the life of SRF: Greece, Ukraine, Rarebase, Zempleni #S10e72

0. SUPPORT OUR PATIENT IN UKRAINE Fundraiser: https://secure.givelively.org/donate/syngap-research-fund-incorporated/help-syngap-family-escape-ukraine/ Tweet: https://twitter.com/JMGraglia/status/1563362473327005698 1. LONGBOARD PHARMA & RAREBASE Watch #S10e71 https://www.youtube.com/watch?v=iPoOjKBwPfY 2. SEIZURE TRACKER Watch #S10e70 https://youtu.be/g6R9ejJnYbw More detail in Webinar64 https://www.syngapresearchfund.org/webinars/64-syngap-study-seizure-tracker 3. WEBINARS PRAXIS & INVITAE - SEPT 8th at 10 PT https://pages.questexinfo.com/invitaereg09082022/?pk=Invitae BEN PROSSER - SEPT 29th at 9 PT https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides 4. COME TO THE CONFERENCE Register: https://Syngap.Fund/Treat Book a room: Link on the registration page. 5. LOTS OF EVENTS TOO! 2 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/ 5 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala 5 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap 10 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree 13 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 72 of #Syngap10 - August 27, 2022 #SalvaUkrani #helpneeded #Stoke #Acadia #CIITIZEN #INVITAE #SEIZURETRACKER #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

August 27, 2022

THE NEXT FOUR MONTHS WILL COME FAST – GET READY! #S10e71

THE NEXT FOUR MONTHS WILL COME FAST - GET READY! #S10e71 0. RAREBASE https://www.rarebase.org/ We announced a partnership at year ago, check out #S10e27 https://www.youtube.com/watch?v=r3bS9YepQ4s Now we are doing phase 2… stay tuned. 1. LONGBOARD PHARMA https://www.longboardpharma.com/ STUDY- https://pacific.researchstudytrial.com/ (Shared in #S10e65 - https://www.youtube.com/watch?v=hSK21-y8fQI) TALK - https://www.youtube.com/watch?v=s7l7wnrEX5E (Link shared in #S10e67 - https://www.youtube.com/watch?v=dVpl1UEBVXA) 2. SEIZURE TRACKER Watch #S10e70 https://youtu.be/g6R9ejJnYbw More detail in Webinar64 https://www.syngapresearchfund.org/webinars/64-syngap-study-seizure-tracker 3. WEBINARS PRAXIS INVITAE - SEPT 8th at 10 PT https://pages.questexinfo.com/invitaereg09082022/?pk=Invitae BEN PROSSER - SEPT 29th at 9 PT https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides 4. REGISTRIES: CIITIZEN, SIMONS, RARE-X CIITIZEN FIRST in US (MEDIAL RECORDS) Sign up at https://Ciitizen.com/SYNGAP1 Refresh by logging into https://app.ciitizen.com Profile update: https://intercom.help/ciitizen-corp/en/articles/6421786-ciitizen-profile-update SIMONS GLOBALLY (GC INTERVIEWS) Simons Searchlight participants can be from any country, as long as they speak English, Spanish, French or Dutch. Click Join Us on https://www.simonssearchlight.org/research/what-we-study/syngap1/ RARE-X (QUESTIONS) Sign up: https://syngap1.rare-x.org/ Webinar: https://www.syngapresearchfund.org/webinars/intro-to-rare-xs-syngap1-data-collection-program 5. COME TO THE CONFERENCE Register: https://Syngap.Fund/Treat Book a room: Link on the registration page. 6. COVID DEE SURVEY https://www.surveymonkey.com/r/DEEsCOVID19 7. LOTS OF OTHER EVENTS TOO! 3 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/ 6 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala 6 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap 11 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree 14 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 71 of #Syngap10 - August 23, 2022 #PRAXIS #CIITIZEN #INVITAE #SEIZURETRACKER #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

August 23, 2022

THE NEXT FOUR MONTHS WILL COME FAST – GET READY! #S10e71

0. RAREBASE https://www.rarebase.org/ We announced a partnership at year ago, check out #S10e27 https://www.youtube.com/watch?v=r3bS9YepQ4s Now we are doing phase 2… stay tuned. 1. LONGBOARD PHARMA https://www.longboardpharma.com/ STUDY- https://pacific.researchstudytrial.com/ (Shared in #S10e65 - https://www.youtube.com/watch?v=hSK21-y8fQI) TALK - https://www.youtube.com/watch?v=s7l7wnrEX5E (Link shared in #S10e67 - https://www.youtube.com/watch?v=dVpl1UEBVXA) 2. SEIZURE TRACKER Watch #S10e70 https://youtu.be/g6R9ejJnYbwMore detail in Webinar64 https://www.syngapresearchfund.org/webinars/64-syngap-study-seizure-tracker 3. WEBINARS PRAXIS INVITAE - SEPT 8th at 10 PT https://pages.questexinfo.com/invitaereg09082022/?pk=Invitae BEN PROSSER - SEPT 29th at 9 PT https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides 4. REGISTRIES: CIITIZEN, SIMONS, RARE-X CIITIZEN FIRST in US (MEDIAL RECORDS) Sign up at https://Ciitizen.com/SYNGAP1 Refresh by logging into https://app.ciitizen.com Profile update: https://intercom.help/ciitizen-corp/en/articles/6421786-ciitizen-profile-update SIMONS GLOBALLY (GC INTERVIEWS) Simons Searchlight participants can be from any country, as long as they speak English, Spanish, French or Dutch. Click Join Us on https://www.simonssearchlight.org/research/what-we-study/syngap1/ RARE-X (QUESTIONS) Sign up: https://syngap1.rare-x.org/ Webinar: https://www.syngapresearchfund.org/webinars/intro-to-rare-xs-syngap1-data-collection-program 5. COME TO THE CONFERENCE Register: https://Syngap.Fund/Treat Book a room: Link on the registration page. 6.COVID DEE SURVEY https://www.surveymonkey.com/r/DEEsCOVID19 7. LOTS OF OTHER EVENTS TOO! 3 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/ 6 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala 6 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap 11 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree 14 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 71 of #Syngap10 - August 23, 2022 #PRAXIS #CIITIZEN #INVITAE #SEIZURETRACKER #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

August 23, 2022

YOU CAN HELP PRAXIS TO PREPARE FOR CLINICAL TRIAL READINESS FOR SYNGAP1 IN PARTNERSHIP WITH CIITIZEN & SRF

REFRESH RECORDS COLLECTION Go to your providers and see what records were collected and when, if you have been back since then, ask them to recollect. SIGN UP FOR TRACKER SURVEY If you are signed up for ciitizen, you have an email from “Invitae Research Studies - [email protected]” The subject is “Invitation to participate in Invitae's Ciitizen rare neurological disorders research study” DO IT EVERY DAY FOR 30 DAYS WATCH THE WEBINAR (Number: 64) FB: https://www.facebook.com/cureSYNGAP1/videos/5755953431123242/ YT: https://www.syngapresearchfund.org/webinars/64-syngap-study-seizure-tracker/ IF YOU HAVEN’T ALREADY, SIGN UP FOR CIITIZEN www.ciitizen.com/syngap1 LEARN ABOUT PRAXIS: https://www.youtube.com/watch?v=Kh7O1bxXsSE KEY REMINDERS FUNDRAISERS BOWIE/ID in US syngap.fund/bowie BOWIE/ID in CANADA syngap.fund/overcome MICE: Help us Make 2! https://syngap.fund/2mice BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS 4 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/ 8 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala 8 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap 9 Weeks: October 12-15 in OH - Child Neurology Society https://www.childneurologysociety.org/colleagues/network/cns-annual-meeting/ 13 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree 13 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient 16 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 70 of #Syngap10 - August 12, 2022 #PRAXIS #CIITIZEN #INVITAE #SEIZURETRACKER #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

August 12, 2022

YOU CAN HELP PRAXIS TO PREPARE FOR CLINICAL TRIAL READINESS FOR SYNGAP1 IN PARTNERSHIP WITH CIITIZEN & SRF

REFRESH RECORDS COLLECTION Go to your providers and see what records were collected and when, if you have been back since then, ask them to recollect. SIGN UP FOR TRACKER SURVEY If you are signed up for ciitizen, you have an email from “Invitae Research Studies - [email protected]” The subject is “Invitation to participate in Invitae's Ciitizen rare neurological disorders research study” DO IT EVERY DAY FOR 30 DAYS WATCH THE WEBINAR (Number: 64) FB: https://www.facebook.com/cureSYNGAP1/videos/5755953431123242/ YT: https://www.syngapresearchfund.org/webinars/64-syngap-study-seizure-tracker/ IF YOU HAVEN’T ALREADY, SIGN UP FOR CIITIZEN www.ciitizen.com/syngap1 LEARN ABOUT PRAXIS: https://www.youtube.com/watch?v=Kh7O1bxXsSE KEY REMINDERS FUNDRAISERS BOWIE/ID in US syngap.fund/bowie BOWIE/ID in CANADA syngap.fund/overcome MICE: Help us Make 2! https://syngap.fund/2mice BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS 4 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/ 8 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala 8 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap 9 Weeks: October 12-15 in OH - Child Neurology Society https://www.childneurologysociety.org/colleagues/network/cns-annual-meeting/ 13 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree 13 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient 16 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 70 of #Syngap10 - August 12, 2022 #PRAXIS #CIITIZEN #INVITAE #SEIZURETRACKER #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

August 12, 2022

Why the Bowie grant is so exciting! Our second collaborative grant! #s10e69

First grant: You can learn more about the Courtney grant in episode 66? #s10e66 https://www.youtube.com/watch?v=_eVw6Oc_V_Y (Like these and subscribe to our YouTube channel). Second grant: Here is the press release and social media on the Bowie grant. - Facebook: https://www.facebook.com/cureSYNGAP1/posts/356581543313514 - Twitter: https://twitter.com/curesyngap1/status/1552642957546700800 - LinkedIn: https://www.linkedin.com/feed/update/urn:li:activity:6958432905563955200 - Press Release: https://www.eurekalert.org/news-releases/960181 1. We have LOTS of requests for support, many are good. So you should join us in supporting this one. 2. This is exciting - Quality and Focused - We said yes. The Bowie Grant story. Excellent and committed to SYNGAP1. Can’t help but like the guy. Key words from press release:Prof. Bowie believes that by correcting targets downstream of these synapses, a specific combination therapy can result in a common improvement of the ID phenotype. This grant will support his lab in investigating the efficacy of this therapy via SYNGAP1 mouse models…to test our idea of using a small molecule approach to target the molecular pathways giving rise to intellectual disability. I am excited to see what new insights this research will uncover. 3. Global Collaboration - Overcome and Campdraft/SRF-Australia Tax deductible Donations in TWO Countries for this grant: - US syngap.fund/bowie - CANADA syngap.fund/overcome 4. Reminder: Infrastructure is huge and it’s here for you. Don’t take for granted the work that is required to give you opportunities to fund. Diligence, Grants to leading researchers, Webpages, Tax receipts, funds flowing directly to well governed organizations. It’s here for you, fund the work! FUNDRAISERS - BOWIE/ID in US syngap.fund/bowie- BOWIE/ID in CANADA syngap.fund/overcome- MICE: Help us Make 2! https://syngap.fund/2mice- BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS- 6 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/ - 10 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/- fundraising/caren-leib-gala- 10 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap- 11 Weeks: October 12-15 in OH - Child Neurology Society https://www.childneurologysociety.org/colleagues/network/cns-annual-meeting/ - 15 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree- 15 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient- 18 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 69 of #Syngap10 - July 29, 2022 #Bowie #McGill #IntellectualDisability #overcomesyngap1 #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

July 29, 2022

Why the Bowie grant is so exciting! Our second collaborative grant! #s10e69

First grant: You can learn more about the Courtney grant in episode 66? #s10e66 https://www.youtube.com/watch?v=_eVw6Oc_V_Y (Like these and subscribe to our YouTube channel). Second grant: Here is the press release and social media on the Bowie grant. - Facebook: https://www.facebook.com/cureSYNGAP1/posts/356581543313514 - Twitter: https://twitter.com/curesyngap1/status/1552642957546700800 - LinkedIn: https://www.linkedin.com/feed/update/urn:li:activity:6958432905563955200 - Press Release: https://www.eurekalert.org/news-releases/960181 1. We have LOTS of requests for support, many are good. So you should join us in supporting this one. 2. This is exciting - Quality and Focused - We said yes. The Bowie Grant story. Excellent and committed to SYNGAP1. Can’t help but like the guy. Key words from press release: Prof. Bowie believes that by correcting targets downstream of these synapses, a specific combination therapy can result in a common improvement of the ID phenotype. This grant will support his lab in investigating the efficacy of this therapy via SYNGAP1 mouse models…to test our idea of using a small molecule approach to target the molecular pathways giving rise to intellectual disability. I am excited to see what new insights this research will uncover. 3. Global Collaboration - Overcome and Campdraft/SRF-Australia Tax deductible Donations in TWO Countries for this grant: - US syngap.fund/bowie - CANADA syngap.fund/overcome 4. Reminder: Infrastructure is huge and it’s here for you. Don’t take for granted the work that is required to give you opportunities to fund. Diligence, Grants to leading researchers, Webpages, Tax receipts, funds flowing directly to well governed organizations. It’s here for you, fund the work! FUNDRAISERS - BOWIE/ID in US syngap.fund/bowie - BOWIE/ID in CANADA syngap.fund/overcome - MICE: Help us Make 2! https://syngap.fund/2mice - BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS - 6 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/ - 10 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/- fundraising/caren-leib-gala - 10 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - 11 Weeks: October 12-15 in OH - Child Neurology Society https://www.childneurologysociety.org/colleagues/network/cns-annual-meeting/ - 15 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree - 15 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient - 18 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 69 of #Syngap10 - July 29, 2022 #Bowie #McGill #IntellectualDisability #overcomesyngap1 #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

July 29, 2022

This week was ripe with a promising future! #s10e68

Remember Episode 67? https://www.youtube.com/watch?v=dVpl1UEBVXA (Like these and subscribe to our YouTube channel). Monday - Invitae Announcement https://ir.invitae.com/news-and-events/press-releases/press-release-details/2022/Invitae-Announces-Strategic-Business-Realignment-to-Accelerate-Its-Path-to-Positive-Cash-Flow-and-Realize-Full-Potential-of-Industry-Leading-Genetics-Testing-Platform/default.aspx - Sign up for Ciitizen: https://syngap.fund/ciitizen - CMO email: “While the announcement focused primarily on our operations and product portfolio, I wanted to take this opportunity to reinforce that Invitae remains unwavering in its commitment to patients. Cultivating strong relationships with Patient Advocacy Groups remains central to our business and our patient-centric philosophy. We will continue to collaborate closely with our Patient Advocacy partners and communities to educate patients and their families on the value of genetic testing in diagnosing and potentially preventing disease. Together with you, we remain steadfast in empowering and supporting patients and highlighting the many opportunities where genetic testing may be beneficial. “ Pharmacogenetics in case you are curious: https://ir.invitae.com/news-and-events/press-releases/press-release-details/2022/Invitae-Launches-Expanded-Pharmacogenomics-Panel-and-Specialized-Mental-Health-Panel/default.aspx Tuesday - Prosser Pre-Print - Mapping PTBP splicing in human brain identifies targets for therapeutic splice switching including SYNGAP1 - “We find that PTBP2 binding to SYNGAP1 mRNA promotes alternative splicing and non-sense mediated decay. Antisense oligonucleotides that disrupt PTBP binding sites on SYNGAP1 redirect splicing and increase gene and protein expression.” - https://twitter.com/cureSYNGAP1/status/1549408144987652104?s=20&t=u5iAtpoucdyaiT06Vt77pg Wednesday - Sample collection at Stanford. - Planning for end of year, see below. Thursday - CHOP Update - https://www.helbiglab.io/ - https://www.youtube.com/watch?v=JVTnkQCtQNo Friday - Disease concept interview, Rarebase & Colombia - WCMC is looking to add to the pile of disease concept studies, which we VERY MUCH need. For the pile see Vlaskamp 2019, Jimenez-Gomez 2019, Smith-Hicks 2021, Wright 2022, Lyons-Warren 2022. - https://www.rarebase.org/ - Vicky is also building community in LatAm, there is a reunion this weekend! https://twitter.com/VickyAArteaga/status/1544994120351059969?s=20&t=6f5x8BqfRFR5UyRvFMOc_w FUNDRAISERS - MICE: Help us Make 2! https://syngap.fund/2mice - BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS - 7 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/ - 10 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - 10 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - 11 Weeks: October 12-15 in OH - Child Neurology Society - 15 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree - 16 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient - 18 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 68 of #Syngap10 - July 25, 2022 #Ciitizen #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

July 25, 2022

This week was ripe with a promising future! #s10e68

This week was ripe with a promising future! #s10e68 Remember Episode 67? https://www.youtube.com/watch?v=dVpl1UEBVXA (Like these and subscribe to our YouTube channel). Monday - Invitae Announcement https://ir.invitae.com/news-and-events/press-releases/press-release-details/2022/Invitae-Announces-Strategic-Business-Realignment-to-Accelerate-Its-Path-to-Positive-Cash-Flow-and-Realize-Full-Potential-of-Industry-Leading-Genetics-Testing-Platform/default.aspx - Sign up for Ciitizen: https://syngap.fund/ciitizen - CMO email: “While the announcement focused primarily on our operations and product portfolio, I wanted to take this opportunity to reinforce that Invitae remains unwavering in its commitment to patients. Cultivating strong relationships with Patient Advocacy Groups remains central to our business and our patient-centric philosophy. We will continue to collaborate closely with our Patient Advocacy partners and communities to educate patients and their families on the value of genetic testing in diagnosing and potentially preventing disease. Together with you, we remain steadfast in empowering and supporting patients and highlighting the many opportunities where genetic testing may be beneficial. “ Pharmacogenetics in case you are curious: https://ir.invitae.com/news-and-events/press-releases/press-release-details/2022/Invitae-Launches-Expanded-Pharmacogenomics-Panel-and-Specialized-Mental-Health-Panel/default.aspx Tuesday - Prosser Pre-Print - Mapping PTBP splicing in human brain identifies targets for therapeutic splice switching including SYNGAP1 - “We find that PTBP2 binding to SYNGAP1 mRNA promotes alternative splicing and non-sense mediated decay. Antisense oligonucleotides that disrupt PTBP binding sites on SYNGAP1 redirect splicing and increase gene and protein expression.” - https://twitter.com/cureSYNGAP1/status/1549408144987652104?s=20&t=u5iAtpoucdyaiT06Vt77pg Wednesday - Sample collection at Stanford. - Planning for end of year, see below. Thursday - CHOP Update - https://www.helbiglab.io/ - https://www.youtube.com/watch?v=JVTnkQCtQNo Friday - Disease concept interview, Rarebase & Colombia - WCMC is looking to add to the pile of disease concept studies, which we VERY MUCH need. For the pile see Vlaskamp 2019, Jimenez-Gomez 2019, Smith-Hicks 2021, Wright 2022, Lyons-Warren 2022. - https://www.rarebase.org/ - Vicky is also building community in LatAm, there is a reunion this weekend! https://twitter.com/VickyAArteaga/status/1544994120351059969?s=20&t=6f5x8BqfRFR5UyRvFMOc_w FUNDRAISERS - MICE: Help us Make 2! https://syngap.fund/2mice - BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS - 7 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/ - 10 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - 10 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - 11 Weeks: October 12-15 in OH - Child Neurology Society - 15 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree - 16 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient - 18 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 68 of #Syngap10 - July 25, 2022 #Ciitizen #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

July 25, 2022

Take time to grieve & then come back to this community to grow. #s10e67

COMMUNITY Two blogs you must read: - Charlie https://syngap.fund/charlie - MDBR https://syngap.fund/unite Vicky is also building community in LatAm, there is a reunion this weekend! https://twitter.com/VickyAArteaga/status/1544994120351059969?s=20&t=6f5x8BqfRFR5UyRvFMOc_w LEARNING Community is big, think Genetic Epilepsies, Remember the Dravet meeting? Well now you can go too: https://dravetfoundation.org/events/dsf-conference/ - Stoke: https://www.youtube.com/watch?v=xHCYFDSwf-o - Longboard: https://www.youtube.com/watch?v=s7l7wnrEX5E - Epigenyx: https://www.youtube.com/watch?v=a-fBOr1W3Dw - Ingo: https://www.youtube.com/watch?v=JVTnkQCtQNo Check out this trial: https://pacific.researchstudytrial.com/?utm_source=other&utm_medium=Longboard&utm_campaign=patient_recruitment&r=16 FUNDRAISERS - MICE: Help us Make 2! https://syngap.fund/2mice - BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS - 8 Weeks: September 12-14 in San Diego - https://globalgenes.org/event/rare-patient-advocacy-summit/ - 11 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - 11 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - 16 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree - 19 Weeks: December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 67 of #Syngap10 - July 18, 2022 #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

July 19, 2022

Take time to grieve & then come back to this community to grow. #s10e67

COMMUNITY Two blogs you must read: - Charlie https://syngap.fund/charlie - MDBR https://syngap.fund/unite Vicky is also building community in LatAm, there is a reunion this weekend! https://twitter.com/VickyAArteaga/status/1544994120351059969?s=20&t=6f5x8BqfRFR5UyRvFMOc_w LEARNING Community is big, think Genetic Epilepsies, Remember the Dravet meeting? Well now you can go too: https://dravetfoundation.org/events/dsf-conference/ - Stoke: https://www.youtube.com/watch?v=xHCYFDSwf-o- Longboard: https://www.youtube.com/watch?v=s7l7wnrEX5E- Epigenyx: https://www.youtube.com/watch?v=a-fBOr1W3Dw- Ingo: https://www.youtube.com/watch?v=JVTnkQCtQNo Check out this trial: https://pacific.researchstudytrial.com/?utm_source=other&utm_medium=Longboard&utm_campaign=patient_recruitment&r=16 FUNDRAISERS - MICE: Help us Make 2! https://syngap.fund/2mice- BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS - 8 Weeks: September 12-14 in San Diego - https://globalgenes.org/event/rare-patient-advocacy-summit/ - 11 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala- 11 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - 16 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree- 19 Weeks: December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 67 of #Syngap10 - July 18, 2022 #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

July 19, 2022

Missense Variants are Finally Getting Attention. Reclassification. Grants. #S10e66

Missense Variants are Finally Getting Attention. Reclassification. Grants. #S10e66 #SyngapCensus for 2q22 is 1098! https://www.syngapresearchfund.org/post/syngapcensus-2022-update-43-in-q2-2022 Incidence and Prevalence Article https://www.syngapresearchfund.org/post/why-are-we-so-sure-that-syngap1-related-intellectual-disability-is-under-diagnosed GRANT TO COURTNEY LAB - Spread the word Twitter: https://twitter.com/JMGraglia/status/1544634675808722946 LinkedIn: https://www.linkedin.com/posts/curesyngap1_missense-collaboration-syngap1-activity-6950413553703030784-6VHG/ Facebook: https://www.facebook.com/cureSYNGAP1/posts/pfbid02JshtwTaK1eSPJ4kUy9Ga1ZrQGAyvk7DyrK1tPWk5UauYDx8mTY8ENeYCUfCnPwXEl Press Release: https://www.eurekalert.org/news-releases/957967 GENETICS Missense: https://www.genome.gov/genetics-glossary/Missense-Mutation Protein Truncating: Nonsense: https://www.genome.gov/genetics-glossary/Nonsense-Mutation Frameshift: https://www.genome.gov/genetics-glossary/Frameshift-Mutation FUNDRAISERS - MICE: Help us Make 2! https://syngap.fund/2mice EVENTS September 12-14 in San Diego - https://globalgenes.org/event/rare-patient-advocacy-summit/ October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 66 of #Syngap10 - July 6, 2022 #CareAboutRare #Ciitizen #Ambry #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

July 6, 2022

Missense Variants are Finally Getting Attention. Reclassification. Grants. #S10e66

#SyngapCensus for 2q22 is 1098! https://www.syngapresearchfund.org/post/syngapcensus-2022-update-43-in-q2-2022 Incidence and Prevalence Article https://www.syngapresearchfund.org/post/why-are-we-so-sure-that-syngap1-related-intellectual-disability-is-under-diagnosed GRANT TO COURTNEY LAB - Spread the word -Twitter: https://twitter.com/JMGraglia/status/1544634675808722946 -LinkedIn: https://www.linkedin.com/posts/curesyngap1_missense-collaboration-syngap1-activity-6950413553703030784-6VHG/ -Facebook: https://www.facebook.com/cureSYNGAP1/posts/pfbid02JshtwTaK1eSPJ4kUy9Ga1ZrQGAyvk7DyrK1tPWk5UauYDx8mTY8ENeYCUfCnPwXEl -Press Release: https://www.eurekalert.org/news-releases/957967 GENETICS Missense: https://www.genome.gov/genetics-glossary/Missense-Mutation Protein Truncating: - Nonsense: https://www.genome.gov/genetics-glossary/Nonsense-Mutation - Frameshift: https://www.genome.gov/genetics-glossary/Frameshift-Mutation FUNDRAISERS - MICE: Help us Make 2! https://syngap.fund/2mice EVENTS -September 12-14 in San Diego - https://globalgenes.org/event/rare-patient-advocacy-summit/ -October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala -October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap -November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree -December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 66 of #Syngap10 - July 6, 2022 #CareAboutRare #Ciitizen #Ambry #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

July 6, 2022

We are learning from the best – A read out from #DSFinDFW Conference. #S10e65

WEBINARS - Susan on Fundraising: https://syngap.fund/susan - Go to the CIITIZEN Webinar tomorrow (June 29th @ 11:30 ET) https://syngap.fund/virginie - Sign up! https://www.ciitizen.com/syngap1/ FUNDRAISERS - SHARE & SUPPORT by Thursday, all funds matched in June! https://www.facebook.com/donate/435907651714018/336149052023430/ - MICE: Help us Make 2! https://syngap.fund/2mice DRAVET WAS AMAZING - Mike’s Tweet-threads about the event - Day 1 https://twitter.com/JMGraglia/status/1540061343813885952 - Day 2 https://twitter.com/JMGraglia/status/1540339186187788289 - Day 3 https://twitter.com/JMGraglia/status/1540709603406540803 - DSF https://dravetfoundation.org/ - Conference https://dravetfoundation.org/events/dsf-conference/ - Dr. Andrade / AGE - https://www.uhnresearch.ca/researcher/danielle-andrade - Dr. Perry & Dr. Papadelis at Cook Children’s - Article about Perry/Cook https://www.checkupnewsroom.com/rare-disease-day-carter--many-patients-treated-cook-childrens-syngap-rare-disease-seizures/ - Dr. Perry on the Twitter: https://twitter.com/TheNotoriousEEG - Link with the Dr. Papadelis study: https://www.cookchildrens.org/services/neurosciences-research/funding/ - Longboard - https://www.longboardpharma.com/ - https://pacific.researchstudytrial.com/ - Epigenyx - https://www.epygenix.com/ - Baraban Lab https://barabanlab.ucsf.edu/ - Clemizole Tweet https://twitter.com/JMGraglia/status/1540712480975884288 EVENTS September 12-14 in San Diego - https://globalgenes.org/event/rare-patient-advocacy-summit/ October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 65 of #Syngap10 - June 28, 2022 #CareAboutRare #CureDravet #DSFinDFW #Ciitizen #LongboardPharma #Epigenyx #CookChildrens #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

June 28, 2022

We are learning from the best – A read out from #DSFinDFW Conference. #S10e65

WEBINARS - Susan on Fundraising: https://syngap.fund/susan - Go to the CIITIZEN Webinar tomorrow (June 29th @ 11:30 ET) https://syngap.fund/virginie - Sign up! https://www.ciitizen.com/syngap1/ FUNDRAISERS - SHARE & SUPPORT by Thursday, all funds matched in June! https://www.facebook.com/donate/435907651714018/336149052023430/ - MICE: Help us Make 2! https://syngap.fund/2mice DRAVET WAS AMAZING - Mike’s Tweet-threads about the event - Day 1 https://twitter.com/JMGraglia/status/1540061343813885952 - Day 2 https://twitter.com/JMGraglia/status/1540339186187788289 - Day 3 https://twitter.com/JMGraglia/status/1540709603406540803 - DSF https://dravetfoundation.org/ - Conference https://dravetfoundation.org/events/dsf-conference/ - Dr. Andrade / AGE - https://www.uhnresearch.ca/researcher/danielle-andrade - Dr. Perry & Dr. Papadelis at Cook Children’s - Article about Perry/Cook https://www.checkupnewsroom.com/rare-disease-day-carter--many-patients-treated-cook-childrens-syngap-rare-disease-seizures/ - Dr. Perry on the Twitter: https://twitter.com/TheNotoriousEEG - Link with the Dr. Papadelis study: https://www.cookchildrens.org/services/neurosciences-research/funding/ - Longboard - https://www.longboardpharma.com/ - https://pacific.researchstudytrial.com/ - Epigenyx - https://www.epygenix.com/ - Baraban Lab https://barabanlab.ucsf.edu/ - Clemizole Tweet https://twitter.com/JMGraglia/status/1540712480975884288 EVENTS September 12-14 in San Diego - https://globalgenes.org/event/rare-patient-advocacy-summit/ October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 65 of #Syngap10 - June 28, 2022 #CareAboutRare #CureDravet #DSFinDFW #Ciitizen #LongboardPharma #Epigenyx #CookChildrens #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

June 28, 2022

Throw the doors open, build your team, tell everyone. #S10e64

TELL EVERYONE - New mom chat - Kali’s article and twitter - https://www.insider.com/my-child-diagnosed-rare-genetic-condition-syngap1-2022-6 - https://twitter.com/WorthKali - Tavillas: https://syngap.fund/susan (6/22/15) CHECK OUT THIS CONFERENCE: https://syngap.fund/treat DRUG CO NEWS - Anglemans and Ionis! https://www.prnewswire.com/news-releases/ionis-treatment-for-angelman-syndrome-receives-orphan-drug-and-rare-pediatric-disease-designations-from-us-fda-301566169.html - Praxis update: At the end, scroll down. CIITIZEN - Webinar was awesome https://syngap.fund/virginie - Sign up! https://www.ciitizen.com/syngap1/ PROBABLY GENETIC IS WORKING! - Assessment: syngap.fund/maybe - https://symptom-checker.probablygenetic.com/syngap/ - Webinar: https://syngap.fund/PG - Sponsored testing with Mahzi! https://mahzi.com/ REMEMBER NOT TO MISS - June 2022 https://mailchi.mp/syngapresearchfund.org/june22 - Sign up for the EF Panel: https://bit.ly/efmen FUNDRAISERS - MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22 - MICE: Help us Make 2! https://syngap.fund/2mice EVENTS - June 25 in DFW - Join us for a family meeting and hear from Dr. Perry. Link soon. - September 12-14 in San Diego - #GlobalGenes Meeting. Link soon. - October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree - December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 64 of #Syngap10 - June 14, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration #EpilepsyFoundation #Praxis #ProbablyGenetic #Mahzi Copy from letter from Praxis: Monday morning, June 6th, we published an 8K filing announcing news involving multiple programs at Praxis Precision Medicines. One of these announcements pertained to the FDA’s clinical hold on our recent IND filing for PRAX-222 in SCN2A, so we wanted to share further context for it. On May 25, 2022, the Company received a communication from the U.S. Food and Drug Administration (the “FDA”) providing additional information on the clinical hold placed on the Company’s Investigational New Drug application (the “IND”) for the study of PRAX-222, an antisense oligonucleotide, for the treatment of patients with SCN2A gain-of-function mutations. The communication indicated that our IND could be cleared once we submit additional documentation related to the preclinical non-human primate toxicology study that supports the proposed starting dose in the clinical study. We’re requesting a Type A meeting with the FDA to confirm the study design and further clarify the requirements for dose escalation beyond the starting dose. This surely will leave our SCN2A community with questions about the timing of our path forward. While the protocol and the discussions being held with the FDA remain confidential, we will do our best to maintain transparency and responsiveness throughout the process. We continue to be fully committed to advancing PRAX-222 to clinical study. We also want to restate that this news is specific to PRAX-222, without impact on our PRAX-562 program for SCN2A, SCN8A and TSC. In Monday’s press release, we reiterated our focus on driving toward proof of concept for PRAX-562. We’ll provide further updates on PRAX-562 as we approach major milestones on this path. In additio

June 14, 2022

Throw the doors open, build your team, tell everyone. #S10e64

Throw the doors open, build your team, tell everyone. #S10e64 TELL EVERYONE - New mom chat - Kali’s article and twitter - https://www.insider.com/my-child-diagnosed-rare-genetic-condition-syngap1-2022-6 - https://twitter.com/WorthKali - Tavillas: https://syngap.fund/susan (6/22/15) CHECK OUT THIS CONFERENCE: https://syngap.fund/treat DRUG CO NEWS - Anglemans and Ionis! https://www.prnewswire.com/news-releases/ionis-treatment-for-angelman-syndrome-receives-orphan-drug-and-rare-pediatric-disease-designations-from-us-fda-301566169.html - Praxis update: At the end, scroll down. CIITIZEN - Webinar was awesome https://syngap.fund/virginie - Sign up! https://www.ciitizen.com/syngap1/ PROBABLY GENETIC IS WORKING! - Assessment: syngap.fund/maybe - https://symptom-checker.probablygenetic.com/syngap/ - Webinar: https://syngap.fund/PG - Sponsored testing with Mahzi! https://mahzi.com/ REMEMBER NOT TO MISS - June 2022 https://mailchi.mp/syngapresearchfund.org/june22 - Sign up for the EF Panel: https://bit.ly/efmen FUNDRAISERS - MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22 - MICE: Help us Make 2! https://syngap.fund/2mice EVENTS - June 25 in DFW - Join us for a family meeting and hear from Dr. Perry. Link soon. - September 12-14 in San Diego - #GlobalGenes Meeting. Link soon. - October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree - December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 64 of #Syngap10 - June 14, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration #EpilepsyFoundation #Praxis #ProbablyGenetic #Mahzi Copy from letter from Praxis: Monday morning, June 6th, we published an 8K filing announcing news involving multiple programs at Praxis Precision Medicines. One of these announcements pertained to the FDA’s clinical hold on our recent IND filing for PRAX-222 in SCN2A, so we wanted to share further context for it. On May 25, 2022, the Company received a communication from the U.S. Food and Drug Administration (the “FDA”) providing additional information on the clinical hold placed on the Company’s Investigational New Drug application (the “IND”) for the study of PRAX-222, an antisense oligonucleotide, for the treatment of patients with SCN2A gain-of-function mutations. The communication indicated that our IND could be cleared once we submit additional documentation related to the preclinical non-human primate toxicology study that supports the proposed starting dose in the clinical study. We’re requesting a Type A meeting with the FDA to confirm the study design and further clarify the requirements for dose escalation beyond the starting dose. This surely will leave our SCN2A community with questions about the timing of our path forward. While the protocol and the discussions being held with the FDA remain confidential, we will do our best to maintain transparency and responsiveness throughout the process. We continue to be fully committed to advancing PRAX-222 to clinical study. We also want to restate that this news is specific to PRAX-222, without impact on our PRAX-562 program for SCN2A, SCN8A and TSC. In Monday’s press release, we reiterated our focus on driving toward proof of concept for PRAX-562. We’ll provide further updates on PRAX-562 as we approach m --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

June 14, 2022

Are you coming to our conference in December? Some goodies to share with your favorite #RareDad – #S10e63

CHECK OUT THIS CONFERENCE: https://syngap.fund/treat PROBABLY GENETIC IS WORKING! - Assessment: syngap.fund/maybe - https://symptom-checker.probablygenetic.com/syngap/ - Testing: syngap.fund/ambit - https://www.ambitcare.com/registration-syngap-research-fund - Webinar: https://syngap.fund/PG - Thursday, June 9th at 9am PT/Noon ET/5pmBST DON’T MISS OUR NEWSLETTER - June 2022 https://mailchi.mp/syngapresearchfund.org/june22 - Sign up https://www.syngapresearchfund.org/families/newsletters - Please make sure we are not going to Spam #FATHERHOOD & RARE - Sign up for the EF Panel: https://bit.ly/efmen - https://us06web.zoom.us/webinar/register/WN_Iv8d06ffT_uDbRDXAAWKOg - SFN Dad To Dad Podcast: https://www.spreaker.com/user/specialfathers/dad-to-dad-204-mike-graglia LINKS FORM EF #PIPELINECONFERENCE 2022 - Agenda: https://www.epilepsy.com/research-funding/pipeline-conference - Kayak study for #SCN8A: https://kayakstudy.com/ - #Prax562: https://www.globenewswire.com/news-release/2022/01/18/2368578/0/en/Praxis-Precision-Medicines-Announces-Publication-of-Preclinical-Data-Highlighting-Differentiated-and-Potent-Antiepileptic-Activity-of-PRAX-562.html - $PRAX https://seekingalpha.com/news/3845864-prax-stock-on-watch-as-lead-asset-fails-in-depression-trial - Engrail: https://www.businesswire.com/news/home/20220607005544/en/Engrail-Therapeutics-Announces-Positive-Results-of-ENX-101-Phase-1b-Clinical-Study-and-Prepares-for-Initiation-of-ENACT-Phase-2-Trial-in-Focal-Epilepsy FUNDRAISERS - MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22 - MICE: Help us Make 2! https://syngap.fund/2mice EVENTS June 11 in Philly - Support our team https://syngap.fund/srfmdbr22 June 25 in DFW - Join us for a family meeting and hear from Dr. Perry. Link soon. September 12-14 in San Diego - #GlobalGenes Meeting. Link soon. October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 63 of #Syngap10 - June 7, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration #EpilepsyFoundation #Engrail #Praxis #Neurocrine #ProbablyGenetic #AmbitHealthcare

June 7, 2022

Are you coming to our conference in December? Some goodies to share with your favorite #RareDad – #S10e63

CHECK OUT THIS CONFERENCE: https://syngap.fund/treat PROBABLY GENETIC IS WORKING! - Assessment: syngap.fund/maybe - https://symptom-checker.probablygenetic.com/syngap/ - Testing: syngap.fund/ambit - https://www.ambitcare.com/registration-syngap-research-fund - Webinar: https://syngap.fund/PG - Thursday, June 9th at 9am PT/Noon ET/5pmBST DON’T MISS OUR NEWSLETTER - June 2022 https://mailchi.mp/syngapresearchfund.org/june22 - Sign up https://www.syngapresearchfund.org/families/newsletters - Please make sure we are not going to Spam #FATHERHOOD & RARE - Sign up for the EF Panel: https://bit.ly/efmen - https://us06web.zoom.us/webinar/register/WN_Iv8d06ffT_uDbRDXAAWKOg - SFN Dad To Dad Podcast: https://www.spreaker.com/user/specialfathers/dad-to-dad-204-mike-graglia LINKS FORM EF #PIPELINECONFERENCE 2022 - Agenda: https://www.epilepsy.com/research-funding/pipeline-conference - Kayak study for #SCN8A: https://kayakstudy.com/ - #Prax562: https://www.globenewswire.com/news-release/2022/01/18/2368578/0/en/Praxis-Precision-Medicines-Announces-Publication-of-Preclinical-Data-Highlighting-Differentiated-and-Potent-Antiepileptic-Activity-of-PRAX-562.html - $PRAX https://seekingalpha.com/news/3845864-prax-stock-on-watch-as-lead-asset-fails-in-depression-trial - Engrail: https://www.businesswire.com/news/home/20220607005544/en/Engrail-Therapeutics-Announces-Positive-Results-of-ENX-101-Phase-1b-Clinical-Study-and-Prepares-for-Initiation-of-ENACT-Phase-2-Trial-in-Focal-Epilepsy FUNDRAISERS - MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22 - MICE: Help us Make 2! https://syngap.fund/2mice EVENTS June 11 in Philly - Support our team https://syngap.fund/srfmdbr22 June 25 in DFW - Join us for a family meeting and hear from Dr. Perry. Link soon. September 12-14 in San Diego - #GlobalGenes Meeting. Link soon. October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 63 of #Syngap10 - June 7, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration #EpilepsyFoundation #Engrail #Praxis #Neurocrine #ProbablyGenetic #AmbitHealthcare --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

June 7, 2022

BONKERS week. #S10e62

OUR LEADERS ROCK - Thank you to the US Board https://www.syngapresearchfund.org/home/our-team/meet-the-team-board-of-directors - Thank you to the UK Trustees https://www.syngapresearchfund.org/home/our-team/team-srf-united-kingdom - Thank you to the EU Board https://www.syngapresearchfund.org/home/our-team/team-srf-eu - Thank you to Fondo Syngap https://www.syngapresearchfund.org/home/our-team/fondo-de-investigacion-syngap PROBABLY GENETIC IS WORKING! - https://syngap.fund/maybe - https://symptom-checker.probablygenetic.com/syngap WEBINARS - Dr. Rumbaugh “SYNGAP1 Splice Forms: Implications for understanding the disorder and development of therapies” https://syngap.fund/Splice - Thursday, June 2nd - 10am PT/1pm ET/ 6pm BST - Lukas “Finding patients with Probably Genetic” https://syngap.fund/PG - Thursday, June 9th @ 9am PT/ Noon ET/5pm BST - Dr. Harris “Discussing #SYNGAP1 Related Developmental Disorders” https://syngap.fund/Holly was great, watch the recording! FUNDRAISERS - MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22 - MICE: Help us Make 2! https://syngap.fund/2mice - MIKE: I’m matching all donations in May! https://www.facebook.com/donate/1933159523538117/1611962155842267 - YOU: Remember to use your birthday on Facebook to do an SRF fundraiser! You get a gift card to the SRF shop as a thank you! https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS - June 11 in Philly - Support our team https://syngap.fund/srfmdbr22 - June 25 in DFW - Join us for a family meeting and hear from Dr. Perry. Link soon. - September 12-14 in San Diego - #GlobalGenes Meeting. Link soon. - October 8 in NJ - Caren Leib Gala - https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - October 8 in SC - Scramble for SYNGAP - https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree - December 1 in TN - Syngap Science Meeting - Stay tuned EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 62 of #Syngap10 - May 28, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration

May 29, 2022

BONKERS week. #S10e61

OUR LEADERS ROCK - Thank you to the US Board https://www.syngapresearchfund.org/home/our-team/meet-the-team-board-of-directors - Thank you to the UK Trustees https://www.syngapresearchfund.org/home/our-team/team-srf-united-kingdom - Thank you to the EU Board https://www.syngapresearchfund.org/home/our-team/team-srf-eu - Thank you to Fondo Syngap https://www.syngapresearchfund.org/home/our-team/fondo-de-investigacion-syngap PROBABLY GENETIC IS WORKING! - https://syngap.fund/maybe - https://symptom-checker.probablygenetic.com/syngap WEBINARS - Dr. Rumbaugh “SYNGAP1 Splice Forms: Implications for understanding the disorder and development of therapies” https://syngap.fund/Splice - Thursday, June 2nd - 10am PT/1pm ET/ 6pm BST - Lukas “Finding patients with Probably Genetic” https://syngap.fund/PG - Thursday, June 9th @ 9am PT/ Noon ET/5pm BST - Dr. Harris “Discussing #SYNGAP1 Related Developmental Disorders” https://syngap.fund/Holly was great, watch the recording! FUNDRAISERS - MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22 - MICE: Help us Make 2! https://syngap.fund/2mice - MIKE: I’m matching all donations in May! https://www.facebook.com/donate/1933159523538117/1611962155842267 - YOU: Remember to use your birthday on Facebook to do an SRF fundraiser! You get a gift card to the SRF shop as a thank you! https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS - June 11 in Philly - Support our team https://syngap.fund/srfmdbr22 - June 25 in DFW - Join us for a family meeting and hear from Dr. Perry. Link soon. - September 12-14 in San Diego - #GlobalGenes Meeting. Link soon. - October 8 in NJ - Caren Leib Gala - https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - October 8 in SC - Scramble for SYNGAP - https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree - December 1 in TN - Syngap Science Meeting - Stay tuned EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 62 of #Syngap10 - May 28, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

May 29, 2022

Thank Goodness we have a dynamic team! Some personal news. #S10e61

LET’S FIND MORE PATIENTS (of color) - https://www.syngapresearchfund.org/syngap-warrior/ethan - https://syngap.fund/maybe -> https://symptom-checker.probablygenetic.com/syngap/ WEBINARS - Dr. Harris “Discussing #SYNGAP1 Related Developmental Disorders” - https://syngap.fund/Holly- Thursday, May 26th 9am PT/12pm ET/5pm BST - Dr. Rumbaugh “SYNGAP1 Splice Forms: Implications for understanding the disorder and development of therapies” - https://syngap.fund/Splice - Thursday, June 2nd/10am PT/1pm ET/6pm BST - Lukas “Finding patients with Probably Genetic” https://syngap.fund/PG - Thursday, June 9th - 9amPT/Noon ET/5pm BST FUTURE IS COMING - Went to PMC last week and it was epic https://twitter.com/JMGraglia/status/1527311983069908992?s=20&t=lV5BL43vS5h8LrYlPWjbTQ #permedconf GETA was GREAT https://www.geneticepilepsyteam.com.au/conference-2022/livestream/ STOKE NEWS Tango with Ed. https://globalgenes.org/rare-cast/episode-387/ NEW GRANT in FINLAND! https://twitter.com/SyngapNetwork/status/1527660584011022336 FUNDRAISERS - MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22 - MICE: Help us Make 2! https://syngap.fund/2mice - MIKE: I’m matching all donations in May! https://www.facebook.com/donate/1933159523538117/1611962155842267/ - YOU: Remember to use your birthday on Facebook to do an SRF fundraiser! You get a gift card to the SRF shop as a thank you! https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS: - June 11 in Philly - Support our team https://syngap.fund/srfmdbr22 - June 25 in DFW - Join us for a family meeting and hear from Dr. Perry - October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - November 12 in GA - Sparks of Hope Gala https://www.syngapresearchfund.org/get-involved/fundraising/syngap-soiree - December 1 in TN - Syngap Science Meeting - Stay tuned EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 61 of #Syngap10 - May 23, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #HunterSyndrome #Praxis --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

May 24, 2022

Thank Goodness we have a dynamic team! Some personal news. #S10e61

LET’S FIND MORE PATIENTS (of color)- https://www.syngapresearchfund.org/syngap-warrior/ethan - https://syngap.fund/maybe -> https://symptom-checker.probablygenetic.com/syngap/ WEBINARS - Dr. Harris “Discussing #SYNGAP1 Related Developmental Disorders” - https://syngap.fund/Holly- Thursday, May 26th 9am PT/12pm ET/5pm BST- Dr. Rumbaugh “SYNGAP1 Splice Forms: Implications for understanding the disorder and development of therapies” - https://syngap.fund/Splice - Thursday, June 2nd/10am PT/1pm ET/6pm BST- Lukas “Finding patients with Probably Genetic” https://syngap.fund/PG - Thursday, June 9th - 9amPT/Noon ET/5pm BST FUTURE IS COMING- Went to PMC last week and it was epic https://twitter.com/JMGraglia/status/1527311983069908992?s=20&t=lV5BL43vS5h8LrYlPWjbTQ #permedconf GETA was GREAThttps://www.geneticepilepsyteam.com.au/conference-2022/livestream/ STOKE NEWSTango with Ed. https://globalgenes.org/rare-cast/episode-387/ NEW GRANT in FINLAND!https://twitter.com/SyngapNetwork/status/1527660584011022336 FUNDRAISERS- MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22 - MICE: Help us Make 2! https://syngap.fund/2mice- MIKE: I’m matching all donations in May! https://www.facebook.com/donate/1933159523538117/1611962155842267/ - YOU: Remember to use your birthday on Facebook to do an SRF fundraiser! You get a gift card to the SRF shop as a thank you! https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS: - June 11 in Philly - Support our team https://syngap.fund/srfmdbr22 - June 25 in DFW - Join us for a family meeting and hear from Dr. Perry - October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - November 12 in GA - Sparks of Hope Gala https://www.syngapresearchfund.org/get-involved/fundraising/syngap-soiree - December 1 in TN - Syngap Science Meeting - Stay tuned EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 61 of #Syngap10 - May 23, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #HunterSyndrome #Praxis

May 24, 2022

Major Preprint from Quadrato & Coba, Rumbaugh working with Praxis, Keep Fundraising! #S10e60

PREPRINT - SRF Tweet https://twitter.com/cureSYNGAP1/status/1524110425494745088 - Actual paper: https://www.biorxiv.org/content/10.1101/2022.05.10.491244v2 WEBINARS - #Syngap Grandparent and USC Law Professor, Richard Peterson did an amazing job, check out his slides and watch the presentation at https://syngap.fund/IDEA- Dr. Harris “Discussing #SYNGAP1 Related Developmental Disorders” https://syngap.fund/Holly/ - Thursday, May 26th 9am PT/12pm ET/5pm BST- Dr. Rumbaugh “SYNGAP1 Splice Forms: Implications for understanding the disorder and development of therapies” https://syngap.fund/Splice - Thursday, June 2nd 10am PT/1pm ET/6pm BST FUNDRAISERS- MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22 - MICE: Help us Make 2! https://syngap.fund/2mice- MIKE: I’m matching all donations in May! - YOU: Remember to use your birthday on Facebook to do an SRF fundraiser! You get a gift card to the SRF shop as a thank you! https://www.facebook.com/cureSYNGAP1/fundraisers STORYTELLINGWatch these incredible sessions from our friends at DSF. And practice telling your story. #PRAXIS NEWSHere is the thread on Praxis with the updates! https://twitter.com/cureSYNGAP1/status/1521852433713950721 #HUNTERSYNDROME- Kim’s comments: https://www.facebook.com/571178176/posts/10158874132988177/ - Press release: https://www.biospace.com/article/takeda-drops-hunter-syndrome-therapeutic-changes-tactics- GETA: Conference, sign up to hear Ingrid & Steve: https://www.eventbrite.com.au/e/geta-2022-sydney-tickets-302049868287 EVENTS: - June 11 in Philly - Support our team https://syngap.fund/srfmdbr22 - June 25 in DFW - Join us for a family meeting and hear from Dr. Perry - October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - November 12 in GA - Sparks of Hope Gala https://www.syngapresearchfund.org/get-involved/fundraising/syngap-soiree - December 1 in TN - Syngap Science Meeting - Stay tuned EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 60 of #Syngap10 - May 13, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #HunterSyndrome #Praxis

May 14, 2022

Major Preprint from Quadrato & Coba, Rumbaugh working with Praxis, Keep Fundraising! #S10e60

Major Preprint from Quadrato & Coba, Rumbaugh working with Praxis, Keep Fundraising! #S10e60 PREPRINT - SRF Tweet https://twitter.com/cureSYNGAP1/status/1524110425494745088 - Actual paper: https://www.biorxiv.org/content/10.1101/2022.05.10.491244v2 WEBINARS - #Syngap Grandparent and USC Law Professor, Richard Peterson did an amazing job, check out his slides and watch the presentation at https://syngap.fund/IDEA - Dr. Harris “Discussing #SYNGAP1 Related Developmental Disorders” https://syngap.fund/Holly/ - Thursday, May 26th 9am PT/12pm ET/5pm BST - Dr. Rumbaugh “SYNGAP1 Splice Forms: Implications for understanding the disorder and development of therapies” https://syngap.fund/Splice - Thursday, June 2nd 10am PT/1pm ET/6pm BST FUNDRAISERS - MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22 - MICE: Help us Make 2! https://syngap.fund/2mice - MIKE: I’m matching all donations in May! - YOU: Remember to use your birthday on Facebook to do an SRF fundraiser! You get a gift card to the SRF shop as a thank you! https://www.facebook.com/cureSYNGAP1/fundraisers STORYTELLING Watch these incredible sessions from our friends at DSF. And practice telling your story. #PRAXIS NEWS Here is the thread on Praxis with the updates! https://twitter.com/cureSYNGAP1/status/1521852433713950721 #HUNTERSYNDROME - Kim’s comments: https://www.facebook.com/571178176/posts/10158874132988177/ - Press release: https://www.biospace.com/article/takeda-drops-hunter-syndrome-therapeutic-changes-tactics- GETA: Conference, sign up to hear Ingrid & Steve: https://www.eventbrite.com.au/e/geta-2022-sydney-tickets-302049868287 EVENTS: - June 11 in Philly - Support our team https://syngap.fund/srfmdbr22 - June 25 in DFW - Join us for a family meeting and hear from Dr. Perry - October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - November 12 in GA - Sparks of Hope Gala https://www.syngapresearchfund.org/get-involved/fundraising/syngap-soiree - December 1 in TN - Syngap Science Meeting - Stay tuned EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 60 of #Syngap10 - May 13, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #HunterSyndrome #Praxis --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

May 14, 2022

We raise funds, make mice & they make preprints! It’s working! #S10e59

Congrats to everyone who did #Sprint4Syngap. Thanks to Stoke for joining! https://twitter.com/StokeTx/status/1523651977594703872 WEBINAR: This Thursday May 12, 2022 join us for the Webinar with #Syngap Grandparent and USC Law Professor, Richard Peterson. Register at https://syngap.fund/IDEA STUDY: Have you signed up for the Eye Tracking study yet? https://syngap.fund/eyetrack TWITTER: Here is the thread on Praxis: https://twitter.com/cureSYNGAP1/status/1521852433713950721 GETA: Conference, sign up to hear Ingrid & Steve: https://www.eventbrite.com.au/e/geta-2022-sydney-tickets-302049868287 MICE: Help us Make 2! https://syngap.fund/2mice RESEARCH: Ben talking about his SYNGAP1 work: https://www.youtube.com/watch?v=U6Z4UDYgGi4 EVENTS: - June 11 in Philly - Support our team https://syngap.fund/srfmdbr22 - June 25 in DFW - Join us for a family meeting and hear from Dr. Perry - October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - November 12 in GA - Sparks of Hope Gala https://www.syngapresearchfund.org/get-involved/fundraising/syngap-soiree - December 1 in TN - Syngap Science Meeting - Stay tuned EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 59 of #Syngap10 - May 9, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

May 9, 2022

We raise funds, make mice & they make preprints! It’s working! #S10e59

Congrats to everyone who did #Sprint4Syngap. Thanks to Stoke for joining! https://twitter.com/StokeTx/status/1523651977594703872 WEBINAR: This Thursday May 12, 2022 join us for the Webinar with #Syngap Grandparent and USC Law Professor, Richard Peterson. Register at https://syngap.fund/IDEA STUDY: Have you signed up for the Eye Tracking study yet? https://syngap.fund/eyetrack TWITTER: Here is the thread on Praxis: https://twitter.com/cureSYNGAP1/status/1521852433713950721 GETA: Conference, sign up to hear Ingrid & Steve: https://www.eventbrite.com.au/e/geta-2022-sydney-tickets-302049868287 MICE: Help us Make 2! https://syngap.fund/2mice RESEARCH: Ben talking about his SYNGAP1 work: https://www.youtube.com/watch?v=U6Z4UDYgGi4 EVENTS: - June 11 in Philly - Support our team https://syngap.fund/srfmdbr22 - June 25 in DFW - Join us for a family meeting and hear from Dr. Perry - October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - November 12 in GA - Sparks of Hope Gala https://www.syngapresearchfund.org/get-involved/fundraising/syngap-soiree - December 1 in TN - Syngap Science Meeting - Stay tuned EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 59 of #Syngap10 - May 9, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

May 9, 2022

Praxis Announces SynGAP Program & #Sprint4Syngap is a global success!. #S10e58

Praxis included SYNGAP1 in their Epilepsy Day Press Release and indicated they expect a candidate for SYNGAP1 in 2023! https://www.globenewswire.com/news-release/2022/04/27/2430231/0/en/Praxis-Precision-Medicines-Showcases-Largest-Targeted-Epilepsy-Portfolio-in-Industry-at-2022-Epilepsy-Day.html Links mentioned -SRFRT1: https://www.syngapresearchfund.org/post/standing-room-only-at-srf-1st-annual-syngap-roundtable-srfrt -Praxis: https://praxismedicines.com/ -Steve fully dedicates his time to Praxis: https://www.globenewswire.com/news-release/2021/12/02/2344901/0/en/Praxis-Precision-Medicines-Announces-Management-Team-Appointments.html -RogCon: https://www.rogcon.com/company/#partners EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/ 2nd Annual Sprint4Syngap was a global success! Still time to donate: https://syngap.fund/sprint2022 and check out this thread on Twitter to see all the events: https://twitter.com/cureSYNGAP1/status/1520606983241437187 WEBINAR: Next week on Thursday May 12, 2022 join us for the Webinar with #Syngap Grandparent and USC Law Professor, Richard Peterson. Register at https://syngap.fund/IDEA This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 58 of #Syngap10 - May 2, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

May 2, 2022

Praxis Announces SynGAP Program & #Sprint4Syngap is a global success!. #S10e58

Praxis included SYNGAP1 in their Epilepsy Day Press Release and indicated they expect a candidate for SYNGAP1 in 2023! https://www.globenewswire.com/news-release/2022/04/27/2430231/0/en/Praxis-Precision-Medicines-Showcases-Largest-Targeted-Epilepsy-Portfolio-in-Industry-at-2022-Epilepsy-Day.html Links mentioned-SRFRT1: https://www.syngapresearchfund.org/post/standing-room-only-at-srf-1st-annual-syngap-roundtable-srfrt -Praxis: https://praxismedicines.com/ -Steve fully dedicates his time to Praxis: https://www.globenewswire.com/news-release/2021/12/02/2344901/0/en/Praxis-Precision-Medicines-Announces-Management-Team-Appointments.html -RogCon: https://www.rogcon.com/company/#partners EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/ 2nd Annual Sprint4Syngap was a global success! Still time to donate: https://syngap.fund/sprint2022 and check out this thread on Twitter to see all the events: https://twitter.com/cureSYNGAP1/status/1520606983241437187 WEBINAR: Next week on Thursday May 12, 2022 join us for the Webinar with #Syngap Grandparent and USC Law Professor, Richard Peterson. Register at https://syngap.fund/IDEA This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 58 of #Syngap10 - May 2, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

May 2, 2022

We need funding, companies and doctors. #S10e57

We need funding to make incredible science happen faster, so go listen to Dr. Anderson on Thursday and then help us raise some money on Saturday! THURSDAY Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg SATURDAY2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 I went to the bootcamp last week! https://www.pharmavoice.com/news/Ultragenyx-CEO-bootcamp-rare-disease-drug-development/621916/ We need great clinicians, let us know if you find one: https://Syngap.Fund/Docs This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 57 of #Syngap10 - April 25, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

April 26, 2022

We need funding, companies and doctors. #S10e57

We need funding to make incredible science happen faster, so go listen to Dr. Anderson on Thursday and then help us raise some money on Saturday! THURSDAY Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg SATURDAY 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 I went to the bootcamp last week! https://www.pharmavoice.com/news/Ultragenyx-CEO-bootcamp-rare-disease-drug-development/621916/ We need great clinicians, let us know if you find one: https://Syngap.Fund/Docs This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 57 of #Syngap10 - April 25, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

April 26, 2022

Why will companies work on #SYNGAP1? #S10e56

First, because patient data is organized, we have 172 people signed up for Ciitizen, make sure you are part of the first 200! Sign up now at https: www.ciitizen.com/SYNGAP1 Second, because there is a credible partner to help them work with patients, researchers and clinicians, see www.SyngapResearchFund.org ;-) We do cool things like get ICD-10 codes. I got ANOTHER call (google #S10e48 & #S10e54) about ICD-10 codes. We are so lucky to have this code, USE IT. F78.A1 Third, because they believe they will find more patients and we believe that too. Here are three ways we are working on this: First, we are working on reaching out to the communities of color to increase genetic testing for NDDs. If you know someone who would like to support another SRF Movie, please let us know. Second, we need to resolve VUS patients. There are too many VUS patients with SYNGAP1. That is low hanging fruit for finding more patients. Third, our work with Probably Genetic is going well. Over 1,750 people have taken that survey and we are going to reach out to ~80 people who we think need to pursue testing… PUSH OUT THIS LINK: https://syngap.fund/maybe Check out this wonderful video from the Kyle and Kelli channel! https://www.youtube.com/watch?v=9KKi_1QG4FU This is the article about the meeting Mike will be joining this week to represent the SynGAP community: https://www.pharmavoice.com/news/Ultragenyx-CEO-bootcamp-rare-disease-drug-development/621916/ Dates you need to know: Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 56 of #Syngap10 - April 18, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

April 19, 2022

Why will companies work on #SYNGAP1? #S10e56

First, because patient data is organized, we have 172 people signed up for Ciitizen, make sure you are part of the first 200! Sign up now at https: www.ciitizen.com/SYNGAP1 Second, because there is a credible partner to help them work with patients, researchers and clinicians, see www.SyngapResearchFund.org ;-) We do cool things like get ICD-10 codes. I got ANOTHER call (google #S10e48 & #S10e54) about ICD-10 codes. We are so lucky to have this code, USE IT. F78.A1 Third, because they believe they will find more patients and we believe that too. Here are three ways we are working on this: First, we are working on reaching out to the communities of color to increase genetic testing for NDDs. If you know someone who would like to support another SRF Movie, please let us know. Second, we need to resolve VUS patients. There are too many VUS patients with SYNGAP1. That is low hanging fruit for finding more patients. Third, our work with Probably Genetic is going well. Over 1,750 people have taken that survey and we are going to reach out to ~80 people who we think need to pursue testing… PUSH OUT THIS LINK: https://syngap.fund/maybe Check out this wonderful video from the Kyle and Kelli channel! https://www.youtube.com/watch?v=9KKi_1QG4FU This is the article about the meeting Mike will be joining this week to represent the SynGAP community: https://www.pharmavoice.com/news/Ultragenyx-CEO-bootcamp-rare-disease-drug-development/621916/ Dates you need to know:Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 56 of #Syngap10 - April 18, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

April 19, 2022

#Sprint4Syngap is just 3 weeks away! #S10e55

#Sprint4Syngap is just 3 weeks away! #S10e55 Special guest host, Peter Halliburton, Development Director at Syngap Research Fund and Syngap dad. Sprint4Syngap - Learn more at http://Syngap.fund/sprint - What is Sprint4Syngap? SRF’s annual fun run fundraiser. - Create a team http://Syngap.fund/sprint2022 - Banners http://Syngap.fund/banner Fundraising For a Cause - Dr. Michael Courtney, University of Turku in Finland - $180k joint grant with Leon & Friends to focus on missense variants. https://bioscience.fi/research/neuronal-signalling-pathways/profile - Dr. Zach Grinspan, Weill Cornell Medicine - $270k grant looking at clinical trial for drug Ravicti showing promising results in other central nervous system disorders. https://vivo.weill.cornell.edu/display/cwid-zag9005 - Rarebase will be coming back to us with a non-trivial sum for their drug repurposing screen. https://www.rarebase.org/ Questions? Reach out to Peter! [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 55 of #Syngap10 - April 9, 2022 #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Sprint4Syngap

April 10, 2022

#Sprint4Syngap is just 3 weeks away! #S10e55

Special guest host, Peter Halliburton, Development Director at Syngap Research Fund and Syngap dad. Sprint4Syngap - Learn more at http://Syngap.fund/sprint - What is Sprint4Syngap? SRF’s annual fun run fundraiser. - Create a team http://Syngap.fund/sprint2022 - Banners http://Syngap.fund/banner Fundraising For a Cause - Dr. Michael Courtney, University of Turku in Finland - $180k joint grant with Leon & Friends to focus on missense variants. https://bioscience.fi/research/neuronal-signalling-pathways/profile - Dr. Zach Grinspan, Weill Cornell Medicine - $270k grant looking at clinical trial for drug Ravicti showing promising results in other central nervous system disorders. https://vivo.weill.cornell.edu/display/cwid-zag9005 - Rarebase will be coming back to us with a non-trivial sum for their drug repurposing screen. https://www.rarebase.org/ Questions? Reach out to Peter! [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 55 of #Syngap10 - April 9, 2022 #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Sprint4Syngap --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

April 10, 2022

LOTS OF NEWS – 1055 Patients, it’s #SyngapCensus Day! #S10e54

Census was launched today: https://www.syngapresearchfund.org/post/syngapcensus-2022-update-70-in-q1-2022 Industry news! - Fintepla for LGS! Great news for our LGS folks. https://twitter.com/cureSYNGAP1/status/1508573464810074113 - Tevard licensed tech from Prof. Jeff Coller. https://twitter.com/TevardB/status/1509511595663282178 We announced models to two labs with RDMM and Hasan, thank you! https://www.syngapresearchfund.org/post/syngap-research-fund-srf-announces-grants-to-dr-kurt-haas-and-dr-graziella-dicristo-in-partnership-with-canadas-rare-diseases-models-and-mechanisms-network-rdmmn Thank you Julie for your help making mice, we are really having fun accelerating science. Thank you JR, Hans and Marta for joining meetings with a company to talk about other options for SRF. All costs $. Global: Victoria is at Dravet in Spain with Katrien from the Netherlands. How cool is that? Denmark is next week. BTW, remember episode 48 (google #S10e48) I got another call, the ICD-10 debacle continues. We are so lucky to have this code, USE IT. I had two meetings this week looking at health economics, this code is showing up and it is going to help us understand cost and find doctors. USE THE CODE… F78.A1 Probably Genetic, our partnership there continues and good things are coming, over 1,000 people have taken that survey and we are going to reach out to 40 people who we think need to pursue testing… PUSH OUT THIS LINK: https://syngap.fund/maybe Advice time: Build #TeamYourKid Our kids don’t get simpler or smaller Babysitters and community members who know them now are their advocates later Double up on Neuros (unless you being seen by rockstars who are close) Everyone needs a good local neuro, few have them, so keep that relationship, both for higher quality care and for someone close in emergencies. If you have the time and the insurance, it's also a good idea to also be seen by a regional medical center. This is for three reasons Second opinions never hurt The regional folks will see more patients and are in an academic setting, so they are more likely to see patterns and publish case studies. When it's clinical trial time, companies won't call local doctors, they will call regional medical centers, you want to be on their list. Reminder in last episode (google #S10e53) for all the events this year, but coming up fast: Jackie’s webinar on Severe Behaviors, Wednesday April 6th. https://us02web.zoom.us/webinar/register/WN_5ojt2t3PSCWqGROpGaxVEw Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 54 of #Syngap10 - April 1, 2022 #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

April 1, 2022

LOTS OF NEWS – 1055 Patients, it’s #SyngapCensus Day! #S10e54

Census was launched today: https://www.syngapresearchfund.org/post/syngapcensus-2022-update-70-in-q1-2022 Industry news!- Fintepla for LGS! Great news for our LGS folks. https://twitter.com/cureSYNGAP1/status/1508573464810074113 - Tevard licensed tech from Prof. Jeff Coller. https://twitter.com/TevardB/status/1509511595663282178 We announced models to two labs with RDMM and Hasan, thank you! https://www.syngapresearchfund.org/post/syngap-research-fund-srf-announces-grants-to-dr-kurt-haas-and-dr-graziella-dicristo-in-partnership-with-canadas-rare-diseases-models-and-mechanisms-network-rdmmn Thank you Julie for your help making mice, we are really having fun accelerating science. Thank you JR, Hans and Marta for joining meetings with a company to talk about other options for SRF. All costs $.Global: Victoria is at Dravet in Spain with Katrien from the Netherlands. How cool is that? Denmark is next week.BTW, remember episode 48 (google #S10e48) I got another call, the ICD-10 debacle continues. We are so lucky to have this code, USE IT. I had two meetings this week looking at health economics, this code is showing up and it is going to help us understand cost and find doctors. USE THE CODE… F78.A1 Probably Genetic, our partnership there continues and good things are coming, over 1,000 people have taken that survey and we are going to reach out to 40 people who we think need to pursue testing… PUSH OUT THIS LINK: https://syngap.fund/maybe Advice time: Build #TeamYourKidOur kids don’t get simpler or smaller Babysitters and community members who know them now are their advocates later Double up on Neuros (unless you being seen by rockstars who are close)Everyone needs a good local neuro, few have them, so keep that relationship, both for higher quality care and for someone close in emergencies. If you have the time and the insurance, it's also a good idea to also be seen by a regional medical center. This is for three reasonsSecond opinions never hurt The regional folks will see more patients and are in an academic setting, so they are more likely to see patterns and publish case studies. When it's clinical trial time, companies won't call local doctors, they will call regional medical centers, you want to be on their list. Reminder in last episode (google #S10e53) for all the events this year, but coming up fast: Jackie’s webinar on Severe Behaviors, Wednesday April 6th. https://us02web.zoom.us/webinar/register/WN_5ojt2t3PSCWqGROpGaxVEw Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 54 of #Syngap10 - April 1, 2022 #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

April 1, 2022

Happy Epilepsy Awareness Day! #S10E53

Three events to plan on: Jackie’s webinar on Severe Behaviors, Wednesday April 6th. https://us02web.zoom.us/webinar/register/WN_5ojt2t3PSCWqGROpGaxVEw Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 Here are the dates to think about for the rest of the year: https://docs.google.com/spreadsheets/d/18R8PcD5aM_HTgYJLgkzAbmzIbD5KZdF2eDP7f3P92jY/edit?usp=sharing Thank you to #UFDTech for your fundraiser today, check it out: https://www.youtube.com/watch?v=Whkborgb-90 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 53 of #Syngap10 - March 25, 2022 #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

March 25, 2022

Happy Epilepsy Awareness Day! #S10E53

Three events to plan on: Jackie’s webinar on Severe Behaviors, Wednesday April 6th. https://us02web.zoom.us/webinar/register/WN_5ojt2t3PSCWqGROpGaxVEw Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 Here are the dates to think about for the rest of the year… April 7-8 5th Dianalund International Conference on Epilepsy - Implementing Epilepsy Genetics in Clinical Practice Denmark April 30 Sprint for Syngap Worldwide May 13-15 EpiCon Convention Nashville, TN June 5 – 6 Epilepsy Foundation Pipeline Conference Santa Clara, CA June 11 Million Dollar Bike Ride Philadelphia, PA June 21 Splash for Syngap Worldwide June 23-25 2022 DSF Family & Professional Conference Fort Worth, TX June 25 Dr. Perry presenting exclusively to Syngap1 families Fort Worth, TX July 11-13 World Orphan Drug Congress Boston, MA September 26 Global Genes Patient Advocacy Summit San Diego, CA October 8 Scramble for Syngap Travelers Rest, SC October 8 2nd Annual Caren Leib Gala New Jersey Oct 31-Nov 1 Epilepsy Awareness Day Expo Anaheim, CA November 2 Epilepsy Awareness Day Disneyland Anaheim, CA November 12 Sparks of Hope Atlanta, GA November 29 Giving Tuesday Worldwide December 1 Scientific Meeting hosted by SRF Nashville, TN December 2-6 AES & the 4th Annual Synapse Roundtable Nashville, TN Thank you to #UFDTech for your fundraiser today, check it out: https://www.youtube.com/watch?v=Whkborgb-90 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 53 of #Syngap10 - March 25, 2022 #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

March 25, 2022

We are starting to find lots of adult patients, what now?

SRF UK is taking off, support Trustee Ray’s fundraiser https://www.justgiving.com/fundraising/srfuk SRF Cell Line project is working! https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments Sign up for Ciitizen, make sure you are included: https://ciitizen.com/Syngap1 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 52 of #Syngap10 - March 21, 2022 #s10e52 #Ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

March 21, 2022

We are starting to find lots of adult patients, what now?

SRF UK is taking off, support Trustee Ray’s fundraiser https://www.justgiving.com/fundraising/srfuk SRF Cell Line project is working! https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments Sign up for Ciitizen, make sure you are included: https://ciitizen.com/Syngap1 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 52 of #Syngap10 - March 21, 2022 #s10e52 #Ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

March 21, 2022

Putting this work in perspective…

Mike takes a break from all the updates to put things in perspective. This work is critical. This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 51 of #Syngap10 - March 14, 2022 #s10e51 #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

March 15, 2022

Putting this work in perspective…

Mike takes a break from all the updates to put things in perspective. This work is critical. This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 51 of #Syngap10 - March 14, 2022 #s10e51 #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

March 15, 2022

Another week in 5th gear, buckle up

Post RDD - Last day of Feb, b/c rarest day What did we do? Raised $25k! Newsletter went out! Read and subscribe please https://twitter.com/cureSYNGAP1/status/1498256918371917824 Jess and Ray represented the Global Team at PWC/Edinburgh https://twitter.com/Cdnchick74/status/1498275297011056644 Jansen and Kimberly were shared, and that is a win for all of us. https://variantyx.com/2022/02/25/jansens-story/ https://www.raredisease.org.uk/rduk-news/our-syngap1-story/ Announced #CouldItBeSyngap1 300+ already https://www.syngapresearchfund.org/post/syngap-research-fund-deploys-coulditbesyngap1-screening-tool-in-partnership-with-probably-genetic Webinar madness! Two down https://www.syngapresearchfund.org/webinars/the-use-of-milk-exosomes-to-increase-the-expression-of-syngap1-expression-in-syngap1-mice https://www.syngapresearchfund.org/webinars/intro-to-rare-xs-syngap1-data-collection-program -> https://syngap1.rare-x.org Two to go Saturday: https://www.syngapresearchfund.org/webinars/estrategias-para-quitar-el-panal Thursday March 10th! https://www.syngapresearchfund.org/webinars/syngap1-service-dogs -> syngap.fund/julian -> https://secure.givelively.org/donate/syngap-research-fund-incorporated/service-dog-for-julian SEVEN (7) New families this week Six welcomed today in post https://www.facebook.com/groups/376862123195518/posts/939459816935743 One not on FB, but reached out after finding us… via this podcast! Yeah. That’s right, there is a work outside of Facebook, we are on Twitter and LinkedIn and Tiktok and Youtube too! Follow us everywhere with @cureSYNGAP1 We are doing a #followfriday on Twitter, so get on that, and meet some families and share your story… you never know where those go. https://twitter.com/cureSYNGAP1/status/1499751768435175429?s=20&t=CcoXMTECIG6MZVzRo-IXqg And it’s good for studies. I could only talk about people who were in the public domain here: https://www.syngapresearchfund.org/post/combinedbrain-duke-university-team-up-to-receive-a-prestigious-fda-grant Happy Birthday Kyle! syngap.fund/kyle Follow this channel: https://www.youtube.com/c/KelliKyle Thank you to SAB and CAB We have stellar advisors, check them out: https://www.syngapresearchfund.org/home/our-team/sab and https://www.syngapresearchfund.org/home/our-team/team-clinical-advisory-board They are working hard looking at some of the seven grant proposal we received! It’s going to be a great investment in the future of our loved ones… Sprint4Syngap! 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/ What else? ORCA, thank you Kali, we have one person left and then we are locked and loaded for the next phase of that important project. Great meeting with Overcome and partnering on Canadian grants. One family, older, needed a neuro and we got them hooked up in a day. Love it. One more survey, if you can for our friends at CNF: https://syngap.fund/cnf22 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 50 of #Syngap10 - March 5, 2022 #s10e50 #sprint4syngap #CouldItBeSYNGAP1 #probablyGenetic #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

March 5, 2022

Another week in 5th gear, buckle up

Post RDD - - Last day of Feb, b/c rarest day - What did we do? - Raised $25k! - Newsletter went out! Read and subscribe please https://twitter.com/cureSYNGAP1/status/1498256918371917824 - Jess and Ray represented the Global Team at PWC/Edinburgh https://twitter.com/Cdnchick74/status/1498275297011056644 - Jansen and Kimberly were shared, and that is a win for all of us. - https://variantyx.com/2022/02/25/jansens-story/ - https://www.raredisease.org.uk/rduk-news/our-syngap1-story/ - Announced #CouldItBeSyngap1 300+ already https://www.syngapresearchfund.org/post/syngap-research-fund-deploys-coulditbesyngap1-screening-tool-in-partnership-with-probably-genetic - Webinar madness! - Two down - https://www.syngapresearchfund.org/webinars/the-use-of-milk-exosomes-to-increase-the-expression-of-syngap1-expression-in-syngap1-mice - https://www.syngapresearchfund.org/webinars/intro-to-rare-xs-syngap1-data-collection-program -> https://syngap1.rare-x.org - Two to go - Saturday: https://www.syngapresearchfund.org/webinars/estrategias-para-quitar-el-panal - Thursday March 10th! https://www.syngapresearchfund.org/webinars/syngap1-service-dogs -> syngap.fund/julian -> https://secure.givelively.org/donate/syngap-research-fund-incorporated/service-dog-for-julian - SEVEN (7) New families this week - Six welcomed today in post https://www.facebook.com/groups/376862123195518/posts/939459816935743 - One not on FB, but reached out after finding us… via this podcast! Yeah. That’s right, there is a work outside of Facebook, we are on Twitter and LinkedIn and Tiktok and Youtube too! - Follow us everywhere with @cureSYNGAP1 - We are doing a #followfriday on Twitter, so get on that, and meet some families and share your story… you never know where those go. https://twitter.com/cureSYNGAP1/status/1499751768435175429?s=20&t=CcoXMTECIG6MZVzRo-IXqg - And it’s good for studies. I could only talk about people who were in the public domain here: https://www.syngapresearchfund.org/post/combinedbrain-duke-university-team-up-to-receive-a-prestigious-fda-grant - Happy Birthday Kyle! syngap.fund/kyle Follow this channel: https://www.youtube.com/c/KelliKyle Thank you to SAB and CAB - We have stellar advisors, check them out: https://www.syngapresearchfund.org/home/our-team/sab and https://www.syngapresearchfund.org/home/our-team/team-clinical-advisory-board - They are working hard looking at some of the seven grant proposal we received! It’s going to be a great investment in the future of our loved ones… Sprint4Syngap! - 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! - Sign up now: https://syngap.fund/sprint2022 - Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/ What else? - ORCA, thank you Kali, we have one person left and then we are locked and loaded for the next phase of that important project. - Great meeting with Overcome and partnering on Canadian grants. - One family, older, needed a neuro and we got them hooked up in a day. Love it. - One more survey, if you can for our friends at CNF: https://syngap.fund/cnf22 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 50 of #Syngap10 - March 5, 2022 #s10e50 #sprint4syngap #CouldItBeSYNGAP1 #probablyGenetic #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

March 5, 2022

Rare Disease Day is Monday! And here at SRF we can feel it all happening…

COOL START TO THE DAY https://twitter.com/cureSYNGAP1/status/1496855893324926977?s=20&t=S7QHkcWewhu0hi-I_XlQBA Grief in convo with Kali about Rare Disease Diagnosis. NEWS We dropped the Zempleni Presser! How cool is this? Cool enough for the Exosome Industry News to write about it https://twitter.com/ExosomeRNA/status/1496907785535049729 Zempleni Webinar: Milk exosomes to increase the expression of SYNGAP1 in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni More is coming soon. We have a few press releases in the hopper! One just made possible by a $70k donation from Unlock Defi https://www.unlockdefi.com/ thank you so much. Learn more about that via this interview we did in November https://www.youtube.com/watch?v=A840uoG1Wj0 PRESENTATIONS Jess is presenting on SRF to the UK Community this weekend at Edinburgh, congratulations! Marta gave a presentation at one of our Pharma partners all-staff for Rare Disease Day. Thank you to her and congratulations. It is powerful to talk about our disease. The Data Sharing Panel was exceptional, if you missed it, watch the recording here: https://syngap.fund/data Get your EEG Tracings! In EDF format. Just ask them at the lab, remember you have a right to your data in all Geographies. AMAZING ASKS Profs at Oxford and McGill have reached out with exciting opportunities. Rarebase is getting noisy. I’m told to expect a proposal from WCM and we have one from Finland. We need more funding… start talking to families now. We are asking Leon and Overcome to co-fund with us too. FUNDRAISING Suzanne in GA on Sparks of Hope Julie in NC on Scramble Nancy in NJ on Gala YOU where you are on Sprint eg. Tavilla 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 49 of #Syngap10 - February 25, 2022 #datasharing #biorasi #EEG #ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

February 25, 2022

Rare Disease Day is Monday! And here at SRF we can feel it all happening…

COOL START TO THE DAY https://twitter.com/cureSYNGAP1/status/1496855893324926977?s=20&t=S7QHkcWewhu0hi-I_XlQBA Grief in convo with Kali about Rare Disease Diagnosis.NEWS We dropped the Zempleni Presser! How cool is this? Cool enough for the Exosome Industry News to write about it https://twitter.com/ExosomeRNA/status/1496907785535049729Zempleni Webinar: Milk exosomes to increase the expression of SYNGAP1 in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni More is coming soon. We have a few press releases in the hopper! One just made possible by a $70k donation from Unlock Defi https://www.unlockdefi.com/ thank you so much. Learn more about that via this interview we did in November https://www.youtube.com/watch?v=A840uoG1Wj0 PRESENTATIONS Jess is presenting on SRF to the UK Community this weekend at Edinburgh, congratulations! Marta gave a presentation at one of our Pharma partners all-staff for Rare Disease Day. Thank you to her and congratulations. It is powerful to talk about our disease. The Data Sharing Panel was exceptional, if you missed it, watch the recording here:https://syngap.fund/data Get your EEG Tracings! In EDF format. Just ask them at the lab, remember you have a right to your data in all Geographies. AMAZING ASKS Profs at Oxford and McGill have reached out with exciting opportunities. Rarebase is getting noisy. I’m told to expect a proposal from WCM and we have one from Finland. We need more funding… start talking to families now. We are asking Leon and Overcome to co-fund with us too. FUNDRAISING Suzanne in GA on Sparks of HopeJulie in NC on ScrambleNancy in NJ on GalaYOU where you are on Sprint eg. Tavilla 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 49 of #Syngap10 - February 25, 2022 #datasharing #biorasi #EEG #ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

February 25, 2022

Happy National Caregiver Day! #s10e48

Happy National Caregiver Day! The Data Sharing Panel next week will be epic, don’t miss: https://syngap.fund/data Tweet: https://twitter.com/curesyngap1/status/1493282864263090181 Use you ICD Codes! F78.A1 if you want background: https://syngap.fund/icd10 - https://syngap.fund/icd11 - https://syngap.fund/F78A1 SRF Case Study here: https://ICDCodeRoadmap.org Get your EEG Tracings! In EDF format. Make sure you connect with us to be connected with the community, either on our reg page or on Facebook: https://syngap.fund/fb goes to https://www.facebook.com/groups/syngap https://www.syngapresearchfund.org/families/connect-with-us Sign up for Ciitizen, make sure you are included: https://ciitizen.com/Syngap1 Zempleni Webinar: Milk exosomes to increase the expression of SYNGAP1 in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 48 of #Syngap10 - February 18, 2022 #datasharing #biorasi #EEG #ICD10 #F78A1 #ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

February 18, 2022

Happy National Caregiver Day!

The Data Sharing Panel next week will be epic, don’t miss:https://syngap.fund/dataTweet: https://twitter.com/curesyngap1/status/1493282864263090181 Use you ICD Codes! F78.A1 if you want background:https://syngap.fund/icd10 - https://syngap.fund/icd11 - https://syngap.fund/F78A1 SRF Case Study here: https://ICDCodeRoadmap.org Get your EEG Tracings! In EDF format. Make sure you connect with us to be connected with the community, either on our reg page or on Facebook: https://syngap.fund/fb goes to https://www.facebook.com/groups/syngaphttps://www.syngapresearchfund.org/families/connect-with-us Sign up for Ciitizen, make sure you are included: https://ciitizen.com/Syngap1 Zempleni Webinar: Milk exosomes to increase the expression of SYNGAP1 in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 48 of #Syngap10 - February 18, 2022 #datasharing #biorasi #EEG #ICD10 #F78A1 #ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

February 18, 2022

It’s all coming together – data, trials, research. Time is now to join in!

The ABN webinar was solid, watch it here: https://www.syngapresearchfund.org/webinars/an-introduction-to-autism-brainnet Remember the Poduri grant, here is the press release if you don’t: https://www.biospace.com/article/releases/syngap-research-fund-announces-308-000-multidisciplinary-biomarker-grant-to-boston-children-s-hospital/ Sign up for Ciitizen, make sure you are included: https://ciitizen.com/Syngap1 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! - Sign up now: https://syngap.fund/sprint2022 - Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/ Reminders: - Great webinar coming up: the use of milk exosomes to increase the expression of SYNGAP1 expression in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni - This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast - Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 47 of #Syngap10 - February 14, 2022 #trialdesign #braindonation #ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

February 15, 2022

It’s all coming together – data, trials, research. Time is now to join in!

The ABN webinar was solid, watch it here: https://www.syngapresearchfund.org/webinars/an-introduction-to-autism-brainnet Remember the Poduri grant, here is the press release if you don’t: https://www.biospace.com/article/releases/syngap-research-fund-announces-308-000-multidisciplinary-biomarker-grant-to-boston-children-s-hospital/ Sign up for Ciitizen, make sure you are included: https://ciitizen.com/Syngap1 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! - Sign up now: https://syngap.fund/sprint2022 - Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/ Reminders: - Great webinar coming up: the use of milk exosomes to increase the expression of SYNGAP1 expression in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni - This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast - Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 47 of #Syngap10 - February 14, 2022 #trialdesign #braindonation #ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

February 15, 2022

You can’t do this alone, don’t try. But do Plan. Lots of planning from SNTs to Brain Donation to Service Dogs.

You can’t do this alone, don’t try. But do Plan. Lots of planning from SNTs to Brain Donation to Service Dogs. HEADLINE: YOU CAN'T DO THIS ALONE, DON’T TRY -Please don’t try to muscle raising a SYNGAP1 child, connect with the community, share tricks, joys and sorrows. We cannot do this alone. PLANNING One parent just asked how to think about planning for the future, here is what I said. SNT (special needs trust) and Life Insurance payable to the trust, this is more affordable than you think. The desire not to burden your other kids is natural, but not always helpful.. Look at Nancy, just watch https://syngap.fund/caren All of our kids will need state services throughout their life if we don't get a therapy into their brains (this is what SRF works on). And even then they will need support, but less. Our kids don't get less complicated, I think you have signed up for Ciitizen, but whoever cares for your loved one will be so grateful that you have put all his medical records in one place. https://ciitizen.com/Syngap1 Get to know this community, we have a STRONG SRF Crew having other families close is huge. Not to mention they know the rules in your state (see #3a). WEBINARS -An Introduction to Autism BrainNet Thursday, February 10 @ 9 am PT/12 pm ET https://syngap.fund/ABN -The use of milk exosomes to increase the expression of SYNGAP1 expression in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni SERVICE DOGS SRF works with Meridus K9, if you are interested, please reach out to Cecilia! https://www.meridusk9.com/ FUNDRAISING IS ALWAYS IMPORTANT - https://syngap.fund/hopeforhadley $12.5k - https://Syngap.fund/joinforjackson $800 - https://Syngap.fund/raylan 2nd Annual #Sprint4Syngap is coming April 30, 2022. - Sign up now: https://syngap.fund/sprint2022 - Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/ THIS IS A PODCAST - SUBSCRIBE! - Subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a Episode 46 of #Syngap10 - February 7, 2022 #servicedogs #braindonation #ciitizen #privacy #SYNGAP1 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

February 7, 2022

You can’t do this alone, don’t try. But do Plan. Lots of planning from SNTs to Brain Donation to Service Dogs.

You can’t do this alone, don’t try. But do Plan. Lots of planning from SNTs to Brain Donation to Service Dogs. HEADLINE: YOU CAN”T DO THIS ALONE, DON’T TRY -Please don’t try to muscle raising a SYNGAP1 child, connect with the community, share tricks, joys and sorrows. We cannot do this alone. PLANNING One parent just asked how to think about planning for the future, here is what I said. Part of the answer is a simple SNT (special needs trust) and Life Insurance payable to the trust, this is more affordable than you think. The desire not to burden your other kids is natural, but not always helpful. I'd leave that up to them, in most of the families that I have had the privilege of getting to know... at least one sibling WANTS to step up, and plans their life accordingly. Look at Nancy, just watch https://syngap.fund/caren Regardless of money, all of our kids will need state services throughout their life if we don't get a therapy into their brains (this is what SRF works on). And even then they will need support, but less. At this point, I would ask yourself two things: - 3a. Are you going to live in this place for good? If so, get all over services in your state. The rules and realities vary considerably by state. - 3b. If you are flexible, is there another place you could live and what are services like there? I've seen a few families take a deep breath, ask these questions and move. Our kids don't get less complicated, I think you have signed up for Ciitizen, but whoever cares for your loved one will be so grateful that you have put all his medical records in one place. https://ciitizen.com/Syngap1 Get to know this community, we have a STRONG SRF Crew having other families close is huge. Not to mention they know the rules in your state (see #3a). WEBINARS -An Introduction to Autism BrainNet Thursday, February 10 @ 9 am PT/12 pm ET https://syngap.fund/ABN -The use of milk exosomes to increase the expression of SYNGAP1 expression in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni SERVICE DOGS SRF works with Meridus K9, if you are interested, please reach out to Cecilia! https://www.meridusk9.com/ FUNDRAISING IS ALWAYS IMPORTANT - https://syngap.fund/hopeforhadley $12.5k - https://Syngap.fund/joinforjackson $800 - https://Syngap.fund/raylan 2nd Annual #Sprint4Syngap is coming April 30, 2022. - Sign up now: https://syngap.fund/sprint2022 - Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/ THIS IS A PODCAST - SUBSCRIBE! - Subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a Episode 46 of #Syngap10 - February 7, 2022 #servicedogs #braindonation #ciitizen #privacy #SYNGAP1 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

February 7, 2022

Old School Syngap10 – Lots of great content in 10 minutes. Fundraising. Blogs. Webinars. Patient stories. Ciitizen.

Old School Syngap10 - Lots of great content in 10 minutes. Fundraising. Blogs. Webinars. Patient stories. Ciitizen. IT ALL TAKES MONEY - Emily’s Fundraiser #HopeForHadley https://secure.givelively.org/donate/syngap-research-fund-incorporated/hope-for-hadley - 2nd Annual Sprint for Syngap is coming April 30, 2022. WEBINARS - La intención comunicativa en SYNGAP1 el sábado 5 de febrero | 9am Miami / 3pm Madrid https://syngap.fund/intencion - An Introduction to Autism BrainNet Thursday, February 10 @ 9 am PT/12 pm ET https://syngap.fund/ABN - The use of milk exosomes to increase the expression of SYNGAP1 expression in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni BLOGS - Diapers: https://www.syngapresearchfund.org/post/diapers-pull-ups-for-older-kids-a-moms-experience - Missense: https://www.syngapresearchfund.org/post/syngap1-frequent-de-novo-missense-variant-alert-study-opportunity-for-p-gly344 - https://www.genome.gov/sites/default/files/tg/en/illustration/missense_mutation.jpg MUTATION STORIES - c.3583-6G>A Europe and East Coast, connected! - c.333del and c.490 C>T Facebook Groups - Data https://docs.google.com/spreadsheets/d/13dAPdXJnF-ST4lJnKrgxEJ_03e7shyXg7jwiqeXSR7c/edit?usp=sharing CIITIZEN - Privacy https://ciitizen.com/privacy - Sign up https://ciitizen.com/SYNGAP1 - Nobody does it better. EXTRA CREDIT - Gene Fixers was VERY GOOD. Here is the replay. This is worth a listen. www.clubhouse.com/room/m26dGYr4?utm_medium=ch_room_xerc&utm_campaign=RgMbPQTckJlMoxenxVxCiQ-38225 REMEMBER - Raise funds at https://syngap.fund/give - Subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a Episode 45 of #Syngap10 - January 28, 2022 #braindonation #specialneedsdiapers #missense #ciitizen #privacy #SYNGAP1 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

January 28, 2022

Old School Syngap10 – Lots of great content in 10 minutes. Fundraising. Blogs. Webinars. Patient stories. Ciitizen.

Old School Syngap10 - Lots of great content in 10 minutes. Fundraising. Blogs. Webinars. Patient stories. Ciitizen. IT ALL TAKES MONEY - Emily’s Fundraiser #HopeForHadley https://secure.givelively.org/donate/syngap-research-fund-incorporated/hope-for-hadley - 2nd Annual Sprint for Syngap is coming April 30, 2022. WEBINARS - La intención comunicativa en SYNGAP1 el sábado 5 de febrero | 9am Miami / 3pm Madrid https://syngap.fund/intencion - An Introduction to Autism BrainNet Thursday, February 10 @ 9 am PT/12 pm ET https://syngap.fund/ABN - The use of milk exosomes to increase the expression of SYNGAP1 expression in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni BLOGS - Diapers: https://www.syngapresearchfund.org/post/diapers-pull-ups-for-older-kids-a-moms-experience - Missense: https://www.syngapresearchfund.org/post/syngap1-frequent-de-novo-missense-variant-alert-study-opportunity-for-p-gly344 - https://www.genome.gov/sites/default/files/tg/en/illustration/missense_mutation.jpg MUTATION STORIES - c.3583-6G>A Europe and East Coast, connected! - c.333del and c.490 C>T Facebook Groups - Data https://docs.google.com/spreadsheets/d/13dAPdXJnF-ST4lJnKrgxEJ_03e7shyXg7jwiqeXSR7c/edit?usp=sharing CIITIZEN - Privacy https://ciitizen.com/privacy - Sign up https://ciitizen.com/SYNGAP1 - Nobody does it better. EXTRA CREDIT - Gene Fixers was VERY GOOD. Here is the replay. This is worth a listen. www.clubhouse.com/room/m26dGYr4?utm_medium=ch_room_xerc&utm_campaign=RgMbPQTckJlMoxenxVxCiQ-38225 REMEMBER - Raise funds at https://syngap.fund/give - Subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a Episode 45 of #Syngap10 - January 28, 2022 #braindonation #specialneedsdiapers #missense #ciitizen #privacy #SYNGAP1 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

January 28, 2022

Special Double Episode: Understanding your particular variant and what to do about it (Hint: #iPSC)

Read Paediatric Neurologist, Clinician-Scientist, Laureate Professor Ingrid Scheffer, AO’s piece in the Lancet Neurology: https://www.thelancet.com/journals/laneur/article/PIIS1474-4422(22)00002-3/fulltext Here is the quote Mike read: “It will not be feasible to design a gene therapy for each pathogenic variant of every genetic disease, so clever strategies, such as those mentioned earlier, will need to be developed to enable these life-changing therapies to reach a wide variety of patients. The future of child neurology is bright—indeed, far more promising than at the turn of the 21st century. Many devastating diseases now have real hope of targeted therapies, which can cure not just one but all manifestations of the disease and offer the child and family the promise of a normal life.” SRF article on IPSCs: https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments SRF article on reading your genetic report: https://www.syngapresearchfund.org/post/understanding-your-genetic-report-with-syngap1-a-rare-disease SRF article on VUS: https://www.syngapresearchfund.org/post/does-your-genetic-report-contain-a-variant-of-unknown-significance-vus-in-syngap1 REMEMBER Raise funds at https://syngap.fund/give Subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a Episode 44 of #Syngap10 - January 21, 2022 #missense #SYNGAP1 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

January 27, 2022

Special Double Episode: Understanding your particular variant and what to do about it (Hint: #iPSC)

Read Paediatric Neurologist, Clinician-Scientist, Laureate Professor Ingrid Scheffer, AO’s piece in the Lancet Neurology: https://www.thelancet.com/journals/laneur/article/PIIS1474-4422(22)00002-3/fulltext Here is the quote Mike read: “It will not be feasible to design a gene therapy for each pathogenic variant of every genetic disease, so clever strategies, such as those mentioned earlier, will need to be developed to enable these life-changing therapies to reach a wide variety of patients. The future of child neurology is bright—indeed, far more promising than at the turn of the 21st century. Many devastating diseases now have real hope of targeted therapies, which can cure not just one but all manifestations of the disease and offer the child and family the promise of a normal life.” SRF article on IPSCs: https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments SRF article on reading your genetic report:https://www.syngapresearchfund.org/post/understanding-your-genetic-report-with-syngap1-a-rare-disease SRF article on VUS:https://www.syngapresearchfund.org/post/does-your-genetic-report-contain-a-variant-of-unknown-significance-vus-in-syngap1 REMEMBERRaise funds at https://syngap.fund/give Subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a Episode 44 of #Syngap10 - January 21, 2022 #missense #SYNGAP1 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

January 27, 2022

Stoke Therapeutics & Acadia Pharmaceuticals are working on SYNGAP1

BIG NEWS! https://www.businesswire.com/news/home/20220110005334/en/ FIVE KEY LINKS - Dr. Kaye’s presentation - Listen to it again and again https://investor.stoketherapeutics.com/events/event-details/40th-annual-jp-morgan-healthcare-conference - AES 2018 Poster https://www.stoketherapeutics.com/wp-content/uploads/Stoke-Poster-Dec-1.pdf - STOKE Patent https://patents.google.com/patent/WO2017106377A1/en - #OneYearSooner - How we can make clinical trials happen faster https://www.syngapresearchfund.org/post/oneyearsooner - Sign up for Ciitizen - www.Ciitizen.com/SYNGAP1 SPREAD THE WORD Twitter.com/cureSYNGAP1/status/1480546972645793794?s=20 Linkedin.com/feed/update/urn:li:activity:6886314132866506753 Facebook.com/cureSYNGAP1/posts/946801809535615 WHO IS WHO AT STOKE https://www.cshl.edu/research/faculty-staff/adrian-r-krainer/ PhD Harvard 1986 https://www.linkedin.com/in/huwnash/ PhD Harvard 1997, EIR ATP since 2014 https://www.oligotherapeutics.org/officers/isabel-aznarez-ph-d/ PhD Toronto 2006 https://www.linkedin.com/in/barryticho/ MD PhD Chicago https://www.linkedin.com/in/edward-kaye-0a46a710/ MD Loyola Chicago COMPANIES Stoke https://www.stoketherapeutics.com/ $ACAD Acadia https://www.acadia-pharm.com/ $STOK OTHER GREAT LINKS DSF on the Monarch https://www.dravetfoundation.org/wp-content/uploads/2020/04/Stoke-Community-FAQ-April-2020.pdf It starts with Spinraza https://www.ninds.nih.gov/About-NINDS/Impact/NINDS-Contributions-Approved-Therapies/Nusinersen-Spinraza%C2%AE-%E2%80%93-Spinal-Muscular aka https://en.wikipedia.org/wiki/Nusinersen Grant made in 2003, Phase 1 in 2011 (dec) FDA approval in 2016 (Dec) https://www.curesma.org/fda-approves-spinraza-for-sma/ From: https://www.bizjournals.com/boston/news/2018/01/04/ex-sarepta-ceo-takes-helm-of-genetic-disease.html Stoke Origins: https://endpts.com/gene-therapy-startup-stoke-therapeutics-secures-another-90m-in-series-b-funding/ $40M from ATP in 2018. https://www.appletreepartners.com/portfolio#stoke-therapeutics IPO June 2019 $163M/ https://www.spglobal.com/marketintelligence/en/news-insights/trending/OTV6RnpzTCGYyRs_gx1m7A2 REMEMBER Raise funds at https://syngap.fund/give Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a Episode 43 of #Syngap10 - January 14, 2022 #StokedAboutStoke #ASO #SYNGAP1 #AcadiaPharma #StokeTx #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

January 14, 2022

Stoke Therapeutics & Acadia Pharmaceuticals are working on SYNGAP1 #S10e43

Stoke Therapeutics & Acadia Pharmaceuticals are working on SYNGAP1 BIG NEWS! https://www.businesswire.com/news/home/20220110005334/en/ FIVE KEY LINKS- Dr. Kaye’s presentation - Listen to it again and again https://investor.stoketherapeutics.com/events/event-details/40th-annual-jp-morgan-healthcare-conference - AES 2018 Poster https://www.stoketherapeutics.com/wp-content/uploads/Stoke-Poster-Dec-1.pdf - STOKE Patent https://patents.google.com/patent/WO2017106377A1/en - #OneYearSooner - How we can make clinical trials happen faster https://www.syngapresearchfund.org/post/oneyearsooner - Sign up for Ciitizen - www.Ciitizen.com/SYNGAP1 SPREAD THE WORDTwitter.com/cureSYNGAP1/status/1480546972645793794?s=20 Linkedin.com/feed/update/urn:li:activity:6886314132866506753 Facebook.com/cureSYNGAP1/posts/946801809535615 WHO IS WHO AT STOKEhttps://www.cshl.edu/research/faculty-staff/adrian-r-krainer/ PhD Harvard 1986 https://www.linkedin.com/in/huwnash/ PhD Harvard 1997, EIR ATP since 2014 https://www.oligotherapeutics.org/officers/isabel-aznarez-ph-d/ PhD Toronto 2006 https://www.linkedin.com/in/barryticho/ MD PhD Chicago https://www.linkedin.com/in/edward-kaye-0a46a710/ MD Loyola Chicago COMPANIESStoke https://www.stoketherapeutics.com/ $ACAD Acadia https://www.acadia-pharm.com/ $STOK OTHER GREAT LINKSDSF on the Monarch https://www.dravetfoundation.org/wp-content/uploads/2020/04/Stoke-Community-FAQ-April-2020.pdf It starts with Spinraza https://www.ninds.nih.gov/About-NINDS/Impact/NINDS-Contributions-Approved-Therapies/Nusinersen-Spinraza%C2%AE-%E2%80%93-Spinal-Muscular aka https://en.wikipedia.org/wiki/Nusinersen Grant made in 2003, Phase 1 in 2011 (dec) FDA approval in 2016 (Dec) https://www.curesma.org/fda-approves-spinraza-for-sma/ From: https://www.bizjournals.com/boston/news/2018/01/04/ex-sarepta-ceo-takes-helm-of-genetic-disease.htmlKaye said he was recruited by Stoke co-founder Adrian Krainer, with whom he previously worked at Genzyme before joining Sarepta in 2010. Krainer is perhaps best known for being an inventor of another “antisense” drug targeting a genetic disease, Biogen’s spinal muscular atrophy treatment Spinraza. “He was one of the real originators of RNA therapy,” Kaye said. “I thought (Stoke) was at a point where it needed to be shepherded from preclinical development into the clinic. It was a really exciting opportunity.” Stoke Origins: https://endpts.com/gene-therapy-startup-stoke-therapeutics-secures-another-90m-in-series-b-funding/ $40M from ATP in 2018. https://www.appletreepartners.com/portfolio#stoke-therapeutics IPO June 2019 $163M/ https://www.spglobal.com/marketintelligence/en/news-insights/trending/OTV6RnpzTCGYyRs_gx1m7A2 REMEMBERRaise funds at https://syngap.fund/give Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a Episode 43 of #Syngap10 - January 14, 2022 #StokedAboutStoke #ASO #SYNGAP1 #AcadiaPharma #StokeTx#F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

January 14, 2022

How to tell your family about SYNGAP1

How to tell your family about SYNGAP1 As you process your loved ones’ recent SYNGAP diagnosis, when do you tell your family? How? When? As soon as you can! How, well that’s what we talk about today: This is a big deal, let’s not minimize it. I need you help Learn with me Fight insurance with me Help me rearrange my life Help with my SYNGAPian or their siblings Jump into my life, don’t give me space Raise funds with me to help bring therapies and cure closer to reality - Raise funds at https://syngap.fund/give - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a Episode 42 of #Syngap10 - January 7, 2022 #family #thetalk #F78A1 #Syngap #Syngap1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

January 7, 2022

How to tell your family about SYNGAP1

How to tell your family about SYNGAP1 As you process your loved ones’ recent SYNGAP diagnosis, when do you tell your family? How? When? As soon as you can! How, well that’s what we talk about today: This is a big deal, let’s not minimize it. I need your help Learn with me Fight insurance with me Help me rearrange my life Help with my SYNGAPian or their siblings Jump into my life, don’t give me space Raise funds with me to help bring therapies and cure closer to reality - Raise funds at https://syngap.fund/give - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a Episode 42 of #Syngap10 - January 7, 2022 #family #thetalk #F78A1 #Syngap #Syngap1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

January 7, 2022

2021 by the numbers, 985 patients counted, exciting work ahead!

2021 by the numbers, 985 patients counted, exciting work ahead! - Mike quantifies the work of SRF in some statistics, it’s been three years: https://syngap.fund/2021numbers - The #SyngapCensus is at 985! https://syngap.fund/census - Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 We are at 154 in the US! - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a Episode 41 of #Syngap10 - December 31, 2021 #phenylbutyrate #F78A1 #Syngap #Syngap1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

December 31, 2021

2021 by the numbers, 985 patients counted, exciting work ahead!

2021 by the numbers, 985 patients counted, exciting work ahead! - Mike quantifies the work of SRF in some statistics, it’s been three years: https://syngap.fund/2021numbers - The #SyngapCensus is at 985! https://syngap.fund/census - Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 We are at 154 in the US! - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a Episode 41 of #Syngap10 - December 31, 2021 #phenylbutyrate #F78A1 #Syngap #Syngap1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

December 31, 2021

Let’s catch the Genetic Therapy Tsunami for SYNGAP1!

Let’s catch the Genetic Therapy Tsunami for SYNGAP1! Episode 40 of #Syngap10 - December 17, 2021 - Dennis’ tweet: https://twitter.com/LalDennis/status/1469502987173310466 - Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 We are over 150! - Clinical Trials link showing adult enrollment for Angelmans. https://www.clinicaltrialsregister.eu/ctr-search/trial/2019-003787-48/NL - ORCA Work, learn more about it: https://populationhealth.duke.edu/research/center-health-measurement/expanding-observer-reported-communication-ability-orca-measure - Learn about the Lighthouse: https://www.linkedin.com/posts/graglia_thelighthouse-activity-6877396385088471040-_ia_ & https://effieparks.com/podcast/episode-094-mike-and-nasha - Add to the schedule June 11, 2022 -- Million Dollar Bike Ride! https://www.milliondollarbikeride.org/ - Emmitt got a #VNS https://twitter.com/SydneyStel/status/1470766587795972096 - phenylbutyrate - https://www.statnews.com/2021/06/03/parents-hoped-an-existing-drug-might-keep-their-kids-from-having-seizures-then-they-saw-the-price/ - https://www.biorxiv.org/content/10.1101/2021.12.08.471799v1.full.pdf - https://www.clinicaltrials.gov/ct2/show/NCT04937062?cond=slc6a1&draw=2&rank=1 - Start at 40:40 https://vimeo.com/610301620 - Raise some money! https://srf.salsalabs.org/srfdidyouknow - What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a #phenylbutyrate #MDBR #Syngap #Syngap1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

December 18, 2021

Let’s catch the Genetic Therapy Tsunami for SYNGAP1!

Episode 40 of #Syngap10 - December 17, 2021 - Dennis’ tweet: https://twitter.com/LalDennis/status/1469502987173310466 - Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 We are over 150! - Clinical Trials link showing adult enrollment for Angelmans. https://www.clinicaltrialsregister.eu/ctr-search/trial/2019-003787-48/NL - ORCA Work, learn more about it: https://populationhealth.duke.edu/research/center-health-measurement/expanding-observer-reported-communication-ability-orca-measure - Learn about the Lighthouse: https://www.linkedin.com/posts/graglia_thelighthouse-activity-6877396385088471040-_ia_ & https://effieparks.com/podcast/episode-094-mike-and-nasha - Add to the schedule June 11, 2022 -- Million Dollar Bike Ride! https://www.milliondollarbikeride.org/ - Emmitt got a #VNS https://twitter.com/SydneyStel/status/1470766587795972096 - phenylbutyrate -https://www.statnews.com/2021/06/03/parents-hoped-an-existing-drug-might-keep-their-kids-from-having-seizures-then-they-saw-the-price/ -https://www.biorxiv.org/content/10.1101/2021.12.08.471799v1.full.pdf -https://www.clinicaltrials.gov/ct2/show/NCT04937062?cond=slc6a1&draw=2&rank=1 -Start at 40:40 https://vimeo.com/610301620 - Raise some money! https://srf.salsalabs.org/srfdidyouknow - What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a #phenylbutyrate #MDBR #Syngap #Syngap1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

December 18, 2021

This is Real Life! Science is moving forward and we are on board

Episode 39 of #Syngap10 - December 10, 2021 - Isoform paper https://www.biorxiv.org/content/10.1101/2021.12.05.471306v1 - Treatment one year sooner https://www.syngapresearchfund.org/post/oneyearsooner - Syngap merch https://www.syngapresearchfund.org/shop - SRF’s Blog https://www.syngapresearchfund.org/blog - Fundraise https://syngap.fund/give - Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 - What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 #TalentTuesday #volunteer #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

December 11, 2021

This is Real Life! Science is moving forward and we are on board

Episode 39 of #Syngap10 - December 10, 2021 - Isoform paper https://www.biorxiv.org/content/10.1101/2021.12.05.471306v1 - Treatment one year sooner https://www.syngapresearchfund.org/post/oneyearsooner - Syngap merch https://www.syngapresearchfund.org/shop - SRF’s Blog https://www.syngapresearchfund.org/blog - Fundraise https://syngap.fund/give - Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 - What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 #TalentTuesday #volunteer #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

December 11, 2021

Let’s make sure SYNGAP1 is cured in our lifetime. It’s up to us.

Let’s make sure SYNGAP1 is cured in our lifetime. It’s up to us. Episode 38 of #Syngap10 - December 4th, 2021 Roundtable 3 #SRFRT3 was a great success, special thanks to all speakers. The #FAST #Angleman meeting is incredible. https://cureangelman.org/events/gala2021 Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 Raise funds for SYNGAP1 - Facebook Fundraisers: http://syngap.fund/FBFun - Giving Tuesday Fundraiser: https://syngap.fund/gt21 - What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 #F78A1 #FAST #Angelman #SRFRT3 #SyngapaseRT #Syngap1 #syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

December 4, 2021

Let’s make sure SYNGAP1 is cured in our lifetime. It’s up to us.

Let’s make sure SYNGAP1 is cured in our lifetime. It’s up to us.Episode 38 of #Syngap10 - December 4th, 2021 Roundtable 3 #SRFRT3 was a great success, special thanks to all speakers. The #FAST #Angleman meeting is incredible. https://cureangelman.org/events/gala2021 Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 Raise funds for SYNGAP1 - Facebook Fundraisers: http://syngap.fund/FBFun - Giving Tuesday Fundraiser: https://syngap.fund/gt21 - What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 #F78A1 #FAST #Angelman #SRFRT3 #SyngapaseRT #Syngap1 #syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

December 4, 2021

Support SRF this GivingTuesday! With guest host, Caitlin Kaspar, Syngap sibling, nonprofit professional

Episode 37 of #Syngap10 - November 26th, 2021 Support SRF this GivingTuesday! With guest host, Caitlin Kaspar, Syngap sibling, nonprofit professional - Getting diagnosed with Syngap1 as an adult - It’s a fact; nonprofits have overhead - SRF founders cover all overhead! www.syngapresearchfund.org/post/7-reasons-smartdonors-fight-syngap1-via-srf - SRF is all about transparency syngap.fund/finance - SRF has 600K out in grants in 2021 syngap.fund/grants - End of Year Giving - Shop and donate at Amazon Smile bit.ly/SRF_Smile - GivingTuesday Nov 30 syngap.fund/gt21 - End of year giving letter created for families to share syngap.fund/eoy #overhead #ciitizen #givingtuesday #adultswithdisabilities #leadership #careaboutrare #GlobalGenes #minted #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

November 27, 2021

Support SRF this GivingTuesday! With guest host, Caitlin Kaspar, Syngap sibling, nonprofit professional

Support SRF this GivingTuesday! With guest host, Caitlin Kaspar, Syngap sibling, nonprofit professional - Getting diagnosed with Syngap1 as an adult - It’s a fact; nonprofits have overhead - SRF founders cover all overhead! www.syngapresearchfund.org/post/7-reasons-smartdonors-fight-syngap1-via-srf - SRF is all about transparency syngap.fund/finance - SRF has 600K out in grants in 2021 syngap.fund/grants - End of Year Giving - Shop and donate at Amazon Smile bit.ly/SRF_Smile - GivingTuesday Nov 30 syngap.fund/gt21 - End of year giving letter created for families to share syngap.fund/eoy Episode 37 - November 26th, 2021 https://www.syngapresearchfund.org/syngap10-podcast#overhead #ciitizen #givingtuesday #adultswithdisabilities #leadership #GlobalGenes #minted #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

November 27, 2021

Grateful for the incredible SRF team/family…

Top 5: 10 to go! https://syngap.fund/NHS or https://www.ciitizen.com/syngap1/ https://syngap.fund/gt21 https://syngap.fund/rt3 Studies: ORCA - Full FRAZIER - email [email protected] SIGN UP ALL ONLINE https://syngap.fund/adults and email [email protected] Old Guard: Aaron, Olga, Rebecca, Virginie, Hans https://www.syngapresearchfund.org/post/meet-the-globalvillage-of-syngapleaders by Jo! Marta, Vicky, Peter, Kali, Summer Pavel, Nancy, Sydney Tavillas Lauren Perry New wave of leaders: Alexis https://syngap.fund/naya Corey Baysden Jen & Dan Robert Suzanne Jones Caitlin Kasper Ashley Frye GET YOUR CARDS! Minted.com FUNDRAISESYNGAP (edited) Episode 36 - November 19th, 2021 https://www.syngapresearchfund.org/syngap10-podcast #grateful #studies #ciitizen #givingtuesday #SynapseRT #adultswithdisabilities #leadership #careaboutrare #GlobalGenes #minted #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

November 19, 2021

Grateful for the incredible SRF team/family…

Top 5: 10 to go! https://syngap.fund/NHS or https://www.ciitizen.com/syngap1/ https://syngap.fund/gt21 https://syngap.fund/rt3 Studies: ORCA - Full FRAZIER - email [email protected] SIGN UP ALL ONLINE https://syngap.fund/adults and email [email protected] Old Guard: Aaron, Olga, Rebecca, Virginie, Hans https://www.syngapresearchfund.org/post/meet-the-globalvillage-of-syngapleaders by Jo! Marta, Vicky, Peter, Kali, Summer Pavel, Nancy, Sydney Tavillas Lauren Perry New wave of leaders: Alexis https://syngap.fund/naya Corey Baysden Jen & Dan Robert Suzanne Jones Caitlin Kasper Ashley Frye GET YOUR CARDS! Minted.com FUNDRAISESYNGAPEpisode 36 - November 19th, 2021 https://www.syngapresearchfund.org/syngap10-podcast#grateful #studies #ciitizen #givingtuesday #SynapseRT #adultswithdisabilities #leadership #careaboutrare #GlobalGenes #minted #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

November 19, 2021

Our kids will live long lives and do beautiful things, let’s make sure we help them as much as possible.

Episode 35 of #Syngap10 - November 12th, 2021 HOLIDAY GIFTS - GET SRF #MERCH 5 days left to order Hoodies, T-shirts, other gear: - https://syngap.fund/LHC or https://syngap.fund/BKC - Get your holiday cards at Minted.com and use code FUNDRAISESYNGAP FOUR STUDIES are enrolling now/soon: - Dr. Andrade - Watch the video and let us know if you have an adult who would like to participate. https://youtu.be/WyhRDePe0Jc - Dr. Frazier - Reach out to [email protected] to participate. Here is the webinar. https://www.syngapresearchfund.org/webinars/improving-the-assessment-of-syngap1-by-creating-online-measures-for-parents-and-patients - ORCA - Once we get the greenlight from FDA we will start recruiting. Here is a link with more info: https://www.syngapresearchfund.org/post/combinedbrain-duke-university-team-up-to-receive-a-prestigious-fda-grant - We have less than 20 spots left in this cohort of Ciitizen, sign up in the next 10 days: https://Ciitizen.com/SYNGAP1 CRYPTO - Jack Shi interview on https://twitter.com/cureSYNGAP1/status/1459165110862168066?s=20 https://www.linkedin.com/feed/update/urn:li:activity:6864944054384279552 https://www.facebook.com/cureSYNGAP1/posts/910882546460875 - Donate Crypto to SRF https://syngap.fund/block HELP US RAISE FUNDS FOR SYNGAP - Facebook Fundraisers: http://syngap.fund/FBFun - Giving Tuesday Fundraiser: https://syngap.fund/gt21 - What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 #NFTs #crypto #unlockdefi #Bonfire #minted #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

November 12, 2021

Our kids will live long lives and do beautiful things, let’s make sure we help them as much as possible.

Episode 35 of #Syngap10 - November 12th, 2021 HOLIDAY GIFTS - GET SRF #MERCH 5 days left to order Hoodies, T-shirts, other gear: - https://syngap.fund/LHC or https://syngap.fund/BKC - Get your holiday cards at Minted.com and use code FUNDRAISESYNGAP FOUR STUDIES are enrolling now/soon: - Dr. Andrade - Watch the video and let us know if you have an adult who would like to participate. https://youtu.be/WyhRDePe0Jc - Dr. Frazier - Reach out to [email protected] to participate. Here is the webinar. https://www.syngapresearchfund.org/webinars/improving-the-assessment-of-syngap1-by-creating-online-measures-for-parents-and-patients - ORCA - Once we get the greenlight from FDA we will start recruiting. Here is a link with more info: https://www.syngapresearchfund.org/post/combinedbrain-duke-university-team-up-to-receive-a-prestigious-fda-grant - We have less than 20 spots left in this cohort of Ciitizen, sign up in the next 10 days: https://Ciitizen.com/SYNGAP1 CRYPTO - Jack Shi interview on https://twitter.com/cureSYNGAP1/status/1459165110862168066?s=20 https://www.linkedin.com/feed/update/urn:li:activity:6864944054384279552 https://www.facebook.com/cureSYNGAP1/posts/910882546460875 - Donate Crypto to SRF https://syngap.fund/block HELP US RAISE FUNDS FOR SYNGAP - Facebook Fundraisers: http://syngap.fund/FBFun - Giving Tuesday Fundraiser: https://syngap.fund/gt21 - What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 #NFTs #crypto #unlockdefi #Bonfire #minted #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

November 12, 2021

Multiple studies enrolling now, start with Ciitizen and keep going…

Episode 34 of #Syngap10 - November 5th, 2021 - 3rd Annual Synapse Roundtable will be Dec 3, 2021, sign up at https://syngap.fund/rt3 - We have 22 spots left in this cohort of Ciitizen, sign up in the next 10 days: https://Ciitizen.com/SYNGAP1 -Three more studies are enrolling now/soon: -Dr. Andrade - Watch the video and let us know if you have an adult who would like to participate. https://youtu.be/WyhRDePe0Jc - Dr. Frazier - Reach out to [email protected] to participate. Here is the webinar. https://www.syngapresearchfund.org/webinars/improving-the-assessment-of-syngap1-by-creating-online-measures-for-parents-and-patients - ORCA - Once we get the greenlight from FDA we will start recruiting. Here is a link with more info: https://www.syngapresearchfund.org/post/combinedbrain-duke-university-team-up-to-receive-a-prestigious-fda-grant - Great newsletter, make sure to read it: https://syngap.fund/Nov - Giving Tuesday Fundraiser: https://syngap.fund/gt21 - ICD-10 Code: https://syngap.fund/F78A1 ICD11 Effort: https://syngap.fund/ICD11 - What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 - Happy GC Awareness Day! #SynapseRT #F78A1 #ICD10 #ICD11 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

November 5, 2021

Multiple studies enrolling now, start with Ciitizen and keep going…

Episode 34 of #Syngap10 - November 5th, 2021 - 3rd Annual Synapse Roundtable will be Dec 3, 2021, sign up at https://syngap.fund/rt3 - We have 22 spots left in this cohort of Ciitizen, sign up in the next 10 days: https://Ciitizen.com/SYNGAP1 -Three more studies are enrolling now/soon: -Dr. Andrade - Watch the video and let us know if you have an adult who would like to participate. https://youtu.be/WyhRDePe0Jc - Dr. Frazier - Reach out to [email protected] to participate. Here is the webinar. https://www.syngapresearchfund.org/webinars/improving-the-assessment-of-syngap1-by-creating-online-measures-for-parents-and-patients - ORCA - Once we get the greenlight from FDA we will start recruiting. Here is a link with more info: https://www.syngapresearchfund.org/post/combinedbrain-duke-university-team-up-to-receive-a-prestigious-fda-grant - Great newsletter, make sure to read it: https://syngap.fund/Nov - Giving Tuesday Fundraiser: https://syngap.fund/gt21 - ICD-10 Code: https://syngap.fund/F78A1 ICD11 Effort: https://syngap.fund/ICD11 - What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 - Happy GC Awareness Day! #SynapseRT #F78A1 #ICD10 #ICD11 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

November 5, 2021

Gather and connect. Learn from those who have come before. Keep hope alive!

Episode 33 of #Syngap10 - October 29th, 2021 Caren Leib Gala was an epic success - #SRFGala - syngap.fund/gala Partnering with Dr. Danielle Andrade in Toronto who is including SYNGAP1 in gene study and is looking for at least 30 families with adult Syngapians. It’s a huge opportunity. https://www.uhnresearch.ca/researcher/danielle-andrade Be hopeful- there is a lot of progress happening below the surface and we have more coming! syngap.fund/grants Support SRF - syngap.fund/give What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 #F78A1 #ICD10 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics #SRFGala --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

October 30, 2021

Gather and connect. Learn from those who have come before. Keep hope alive!

Episode 33 of #Syngap10 - October 29th, 2021 -Caren Leib Gala was an epic success - #SRFGala - syngap.fund/gala -Partnering with Dr. Danielle Andrade in Toronto who is including SYNGAP1 in gene study and is looking for at least 30 families with adult Syngapians. It’s a huge opportunity. https://www.uhnresearch.ca/researcher/danielle-andrade - Be hopeful- there is a lot of progress happening below the surface and we have more coming! syngap.fund/grants - Support SRF - syngap.fund/give - What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 #F78A1 #ICD10 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics #SRFGala

October 30, 2021

Gala. Webinar. Crypto SunBlocks. ICD 10 AND 11. Thank you. Sign up for Ciitizen by 11/15/21.

Happenings Tomorrow is the GALA https://syngap.fund/gala In two Thursdays! Investigating the functional single cell biology of SYNGAP1 pathways Thursday, November 4th Register: http://Syngap.Fund/mc NOW (Crypto Art Auction) https://syngap.fund/sungap ICDs & Medical Care - Corey ICD-10 issue https://syngap.fund/F78A1 - ICD-11 is happening too! Not kidding: https://www.syngapresearchfund.org/post/icd-11-is-coming-soon-and-we-need-your-help - Medical Considerations Guide is up! www.syngapresearchfund.org/families/doctors Thank yous - Thank you to Ashley and Forbes for giving SRF some air time! https://www.forbes.com/sites/kevindowd/2021/10/20/after-helping-pfizer-speed-up-its-vaccine-trials-saama-strikes-a-430-million-deal-with-carlyle/ - Thank you to Ira for the opportunity, longer interview today on Potential, Progress, Possibilities, on https://syngap.fund/mike or directly at https://youtu.be/RGnStUPmUkI - Spectrum for featuring two SRF Grantees work. https://www.spectrumnews.org/news/autism-linked-gene-syngap1-molds-synaptic-plasticity-learning/ - Thank you to Jansen’s parents for going big on this fundraiser: https://syngap.fund/Jansen $90k+ Data Deadlines - Sign up for #Ciitizen, we have until November 15 to be in the next release: https://www.ciitizen.com/syngap1 - December 3rd is the third annual SYNAPSE Roundtable #SynapseRT https://www.Syngap.fund/RT3 etc. - What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 #F78A1 #ICD10 #ICD11 #Syngap1 #SYNGAP #SUNGAP #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics Episode 32. --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

October 22, 2021

Gala. Webinar. Crypto SunBlocks. ICD 10 AND 11. Thank you. Sign up for Ciitizen by 11/15/21.

Happenings Tomorrow is the GALA https://syngap.fund/gala In two Thursdays! Investigating the functional single cell biology of SYNGAP1 pathways Thursday, November 4th Register: http://Syngap.Fund/mc NOW (Crypto Art Auction) https://syngap.fund/sungap ICDs & Medical Care- Corey ICD-10 issue https://syngap.fund/F78A1 - ICD-11 is happening too! Not kidding: https://www.syngapresearchfund.org/post/icd-11-is-coming-soon-and-we-need-your-help - Medical Considerations Guide is up! www.syngapresearchfund.org/families/doctors Thank yous - Thank you to Ashley and Forbes for giving SRF some air time! https://www.forbes.com/sites/kevindowd/2021/10/20/after-helping-pfizer-speed-up-its-vaccine-trials-saama-strikes-a-430-million-deal-with-carlyle/ - Thank you to Ira for the opportunity, longer interview today on Potential, Progress, Possibilities, on https://syngap.fund/mike or directly at https://youtu.be/RGnStUPmUkI - Spectrum for featuring two SRF Grantees work. https://www.spectrumnews.org/news/autism-linked-gene-syngap1-molds-synaptic-plasticity-learning/ - Thank you to Jansen’s parents for going big on this fundraiser: https://syngap.fund/Jansen $90k+ Data Deadlines- Sign up for #Ciitizen, we have until November 15 to be in the next release: https://www.ciitizen.com/syngap1 - December 3rd is the third annual SYNAPSE Roundtable #SynapseRT https://www.Syngap.fund/RT3 etc. - What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 #F78A1 #ICD10 #ICD11 #Syngap1 #SYNGAP #SUNGAP #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #PediatricsEpisode 32.

October 22, 2021

Episode 31 of #Syngap10 – October 15th, 2021

Coming in hot! BCH Grant putting Ciitizen to work & the Gala is next week! Episode 31 of #Syngap10 - October 15th, 2021 - We just gave BCH a large grant to work on #SYNGAP1 #ciitizen data, thanks to all our donors, press release: https://www.syngapresearchfund.org/post/syngap-research-fund-announces-308-000-multidisciplinary-biomarker-grant-to-boston-childrens-hospital - Sign up for Ciitizen, we have until November 15 to be in the next release: https://www.ciitizen.com/syngap1 - Huge thanks to UFDtech for the #UFDcure Cannonball, $151k! https://www.justgiving.com/fundraising/ufdcure - Consider donating to our fundraiser for RareBase syngap.fund/RB. - Oct. 23rd is the gala & auction in NJ. Dr. Ben Prosser, SRF Director Nancy Kessler and co-founder Ashley Evans will be speaking. syngap.fund/gala - December 3rd is the third annual SYNAPSE Roundtable #SynapseRT https://www.Syngap.fund/RT3 - What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here syngap.fund/10 #F78A1 #ICD10 #UFDcure #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

October 15, 2021

Coming in hot! BCH Grant putting Ciitizen to work & the Gala is next week!

Episode 31 of #Syngap10 - October 15th, 2021 - We just gave BCH a large grant to work on #SYNGAP1 #ciitizen data, thanks to all our donors, press release: https://www.syngapresearchfund.org/post/syngap-research-fund-announces-308-000-multidisciplinary-biomarker-grant-to-boston-childrens-hospital - Sign up for Ciitizen, we have until November 15 to be in the next release: https://www.ciitizen.com/syngap1 - Huge thanks to UFDtech for the #UFDcure Cannonball, $151k! https://www.justgiving.com/fundraising/ufdcure - Consider donating to our fundraiser for RareBase syngap.fund/RB. - Oct. 23rd is the gala & auction in NJ. Dr. Ben Prosser, SRF Director Nancy Kessler and co-founder Ashley Evans will be speaking. syngap.fund/gala - December 3rd is the third annual SYNAPSE Roundtable #SynapseRT https://www.Syngap.fund/RT3 - What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here syngap.fund/10 #F78A1 #ICD10 #UFDcure #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics

October 15, 2021

Inspiring your community and raising awareness for SYNGAP1 – Episode 30 of #Syngap10 – October 8th, 2021

- Cannonball’s last day TODAY. Three dads driving across the US. syngap.fund/cb - Family fundraiser: syngap.fund/jansen - Consider donating to our fundraiser for RareBase. syngap.fund/rb - SYNGAP1 Patient Voice Publication. syngap.fund/pvp #F78A1 #ICD10 #UFDcure #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

October 8, 2021

Inspiring your community and raising awareness for SYNGAP1

- Cannonball’s last day TODAY. Three dads driving across the US. syngap.fund/cb - Family fundraiser: syngap.fund/jansen - Consider donating to our fundraiser for RareBase. syngap.fund/rb - SYNGAP1 Patient Voice Publication. syngap.fund/pvp #F78A1 #ICD10 #UFDcure #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics

October 8, 2021

F78.A1 is the ICD-10 code for 883 SynGAPians today! #UFDcure Cannonball in 5 days! – Episode 29 of #Syngap10 – October 1st, 2021 with guest host, Ashley Frye

- Go see the SRF TikTok account: syngap.fund/tiktok. - Find us everywhere at our handle @curesyngap1. - It's October 1! #SYNGAP1 ICD-10 code F78.A1 is live TODAY. Ask all your clinicians to start using it. syngap.fund/F78A1 - Cannonball 5 DAYS . 3 dads driving across the US syngap.fund/cball #UFDcure. - Consider donating to our fundraiser for RareBase syngap.fund/RB. - #SYNGAP Census! There are 883 diagnosed Syngapians worldwide. This is +75 in the last 3 months. Learn more at syngap.fund/census. - Medical Considerations Guide is up! www.syngapresearchfund.org/families/doctors. - Oct. 23rd is the gala & auction in NJ. Dr. Ben Prosser and co-founder Ashley Evans will be speaking. syngap.fund/gala - October Newsletter: read it here: syngapresearchfund.org/news. - Sign up for this 10 minute #podcast #SYNGAP10 here syngap.fund/10 #F78A1 #ICD10 #UFDcure #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

October 1, 2021

F78.A1 is the ICD-10 code for 883 SynGAPians today! #UFDcure Cannonball in 5 days! Guest host, Ashley Frye

- Go see the SRF TikTok account: syngap.fund/tiktok. - Find us everywhere at our handle @curesyngap1. - It's October 1! #SYNGAP1 ICD-10 code F78.A1 is live TODAY. Ask all your clinicians to start using it. syngap.fund/F78A1 - Cannonball 5 DAYS . 3 dads driving across the US syngap.fund/cball #UFDcure. - Consider donating to our fundraiser for RareBase syngap.fund/RB. - #SYNGAP Census! There are 883 diagnosed Syngapians worldwide. This is +75 in the last 3 months. Learn more at syngap.fund/census. - Medical Considerations Guide is up! www.syngapresearchfund.org/families/doctors. - Oct. 23rd is the gala & auction in NJ. Dr. Ben Prosser and co-founder Ashley Evans will be speaking. syngap.fund/gala - October Newsletter: read it here: syngapresearchfund.org/news. - Sign up for this 10 minute #podcast #SYNGAP10 here syngap.fund/10 This was Episode 29 of #Syngap10 - October 1st, 2021 #F78A1 #ICD10 #UFDcure #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics

October 1, 2021

Keep growing our community, we need each other – Episode 28 of #Syngap10 – September 24th, 2021

- Correction: Last week, reminder, we are here to clear the path for whomever wins, we don't care who wins we want this race to be won and easier to finish for everyone. - Big thought: Complex Population, about to get more complex, "Post-Intervention" - Sign up for Ciitizen: https://www.ciitizen.com/syngap1/ - Remember that Duke presentation, here it is: https://www.syngapresearchfund.org/post/combinedbrain-duke-university-team-up-to-receive-a-prestigious-fda-grant/ - Next week, lets' get connected Global Genes Conference https://globalgenes.org/event/rare-patient-advocacy-summit/ - Simons Searchlight in Spanish, English is still being scheduled: https://syngap.fund/SimonsSearchlight/ - Interesting paper on #SYNGAP1 and Sleep, the best part is the suggestion at the end to use this for a clinical endpoint! https://twitter.com/cureSYNGAP1/status/1439825860245090306?s=20 - Not Alone Coloring Book! https://syngap.fund/notalone - Cannonball 11 DAYS . 3 dads driving across the US https://syngap.fund/cball #UFDcure - Go to the GALA! 29 DAYS! https://syngap.fund/gala - Easy to do https://syngap.fund/GNP - Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR - Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10 - What is #SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 #F78A1 #ICD10 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

September 24, 2021

Keep growing our community, we need each other!

- Correction: Last week, reminder, we are here to clear the path for whomever wins, we don't care who wins we want this race to be won and easier to finish for everyone. - Big thought: Complex Population, about to get more complex, "Post-Intervention" - Sign up for Ciitizen: https://www.ciitizen.com/syngap1/ - Remember that Duke presentation, here it is: https://www.syngapresearchfund.org/post/combinedbrain-duke-university-team-up-to-receive-a-prestigious-fda-grant/ - Next week, lets' get connected Global Genes Conference https://globalgenes.org/event/rare-patient-advocacy-summit/ - Simons Searchlight in Spanish, English is still being scheduled: https://syngap.fund/SimonsSearchlight/ - Interesting paper on #SYNGAP1 and Sleep, the best part is the suggestion at the end to use this for a clinical endpoint! https://twitter.com/cureSYNGAP1/status/1439825860245090306?s=20 - Not Alone Coloring Book! https://syngap.fund/notalone - Cannonball 11 DAYS . 3 dads driving across the US https://syngap.fund/cball #UFDcure - Go to the GALA! 29 DAYS! https://syngap.fund/gala - Easy to do https://syngap.fund/GNP - Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR - Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10 - What is #SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 This was Episode 28 of #Syngap10 - September 24th, 2021 #F78A1 #ICD10 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics

September 24, 2021

Rarebase explained and who is going to win the race, we don‘t care – Episode 27 of #Syngap10 – September 17th, 2021

Rarebase (explained) and also, they helped us find another another family. Here is the press release: https://www.rarebase.org/post/rarebase-launches-a-neuroscience-drug-discovery-platform-collaborating-with-15-rare-disease-patient-organizations #FUNCTION #RareBase Cannonball 18 DAYS did you see this article? https://thealmanac.net/news/upper-st-clair-resident-plans-to-livestream-cross-country-ride-for-charity/article_09570da8-119f-11ec-b1a1-fbe2d9f2526a.html 3 dads driving across :us: and focusing on endurance, can you sponsor? https://www.syngapresearchfund.org/cannonball #UFDcure Billy shoes: 10% off with https://Syngap.Fund/Billy watch our interview at https://youtu.be/mAz1PT_JziE Company conversations: Q-State Pipeline Reminder, we are here to clear the path for whomever wins, we don't care who wins we want this race to be won. Have you bought your tickets to the Gala yet? 35 DAYS! https://www.syngapresearchfund.org/gala San Filippo has a 10 min podcast and we love it. Honestly, it's been a great way to connect and I urge everyone to try it out. #SYNGAP1 #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAP #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics #epilepsy #autism #geneticcounseling #raredisease #Podcast #SYNGAP10 --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

September 17, 2021

Rarebase explained and who is going to win the race, we don‘t care, we just need it fast.

Rarebase (explained) and also, they helped us find another another family. Here is the press release: https://www.rarebase.org/post/rarebase-launches-a-neuroscience-drug-discovery-platform-collaborating-with-15-rare-disease-patient-organizations #FUNCTION #RareBase Cannonball 18 DAYS did you see this article? https://thealmanac.net/news/upper-st-clair-resident-plans-to-livestream-cross-country-ride-for-charity/article_09570da8-119f-11ec-b1a1-fbe2d9f2526a.html 3 dads driving across :us: and focusing on endurance, can you sponsor? https://www.syngapresearchfund.org/cannonball #UFDcure Billy shoes: 10% off with https://Syngap.Fund/Billy watch our interview at https://youtu.be/mAz1PT_JziE Company conversations: Q-State Pipeline Reminder, we are here to clear the path for whomever wins, we don't care who wins we want this race to be won. Have you bought your tickets to the Gala yet? 35 DAYS! https://www.syngapresearchfund.org/gala San Filippo has a 10 min podcast and we love it. Honestly, it's been a great way to connect and I urge everyone to try it out. This was episode 27 of #Syngap10 - September 17th, 2021#SYNGAP1 #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAP #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics #epilepsy #autism #geneticcounseling #raredisease #Podcast #SYNGAP10

September 17, 2021

The future is coming, let’s build it! – Episode 26

#SYNGAP10 - Episode 26 - September 10th, 2021 - The future is coming, let’s build it! A wonderful letter from a parent “on an island” that reminded us of the https://Syngap.fund/lens with http://joashline.com/ made my week. Digital Lighthouse concept in the 12 Commandments Interview with Effie: https://effieparks.com/podcast/episode-094-mike-and-nasha First principles, we are here to change the future and help each other. The future is coming: Invitae & Ciitizen Read this FAQ https://www.ciitizen.com/announcement/ Sign up for Ciitizen https://ciitizen.com/syngap1 We make the future by raising funds and building community, that is happening twice over with #UFDcure Cannonball & Care Leib Gala. https://syngap.fund/cball -> https://www.syngapresearchfund.org/cannonball 25 Days, https://syngap.fund/gala -> https://www.syngapresearchfund.org/gala 43 days (19 for tix) Two big announcements next week, it's going to be great and I will also go over money. Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10 What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 #F78A1 #ICD10 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics #ciitizen #invitae You can ignore this M9pjBv6Mq6gJNXNdZl5q --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

September 10, 2021

The future is coming, let’s build it!

#SYNGAP10 - Episode 26 - September 10th, 2021 - The future is coming, let’s build it! A wonderful letter from a parent “on an island” that reminded us of the https://Syngap.fund/lens with http://joashline.com/ made my week. Digital Lighthouse concept in the 12 Commandments Interview with Effie: https://effieparks.com/podcast/episode-094-mike-and-nasha First principles, we are here to change the future and help each other. The future is coming: Invitae & Ciitizen Read this FAQ https://www.ciitizen.com/announcement/ Sign up for Ciitizen https://ciitizen.com/syngap1 We make the future by raising funds and building community, that is happening twice over with #UFDcure Cannonball & Care Leib Gala. https://syngap.fund/cball -> https://www.syngapresearchfund.org/cannonball 25 Days, https://syngap.fund/gala -> https://www.syngapresearchfund.org/gala 43 days (19 for tix) Two big announcements next week! Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10 This was episode 26 of #Syngap10 What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 #F78A1 #ICD10 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics

September 10, 2021

#SYNGAP10 – Ep. 25 – September 3rd, 2021 – Hope is the smartest move

-That incredible webinar https://Syngap.fund/ana was a source of hope! -The newsletter came out yesterday; it’s really good: https://syngap.fund/sept -Families in the US, UK, Canada & Australia are reminded to sign up for the largest collection of SYNGAP1 data on earth for free: https://ciitizen.com/syngap1 -Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR -Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10 -What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 #F78A1 #ICD10 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

September 3, 2021

Hope is the smartest move!

-That incredible webinar https://Syngap.fund/ana was a source of hope! -The newsletter came out yesterday; it’s really good: https://syngap.fund/sept -Families in the US, UK, Canada & Australia are reminded to sign up for the largest collection of SYNGAP1 data on earth for free: https://ciitizen.com/syngap1 -Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR -Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10 -What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 This was episode 25 of #Syngap10 - September 3rd, 2021 #F78A1 #ICD10 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics

September 3, 2021

#SYNGAP10 – Ep. 24 – August 27th, 2021 – Two conversations with the same conclusion…

#SYNGAP10 - Episode 24 - August 27th, 2021 - Two conversations with the same conclusion... Next Webinar: https://Syngap.fund/ana Sept 2 at 10 am. PST Two conversations with the same conclusion, sign up for Ciitizen https://ciitizen.com/syngap1 Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10 What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

August 28, 2021

Two conversations with the same conclusion…

Mike shares two conversations from the week and explains how they underline the same conclusion: every family can and should share their data for research via Ciitizen.

August 28, 2021

#SYNGAP10 – Ep. 23 – Telling our story and why it matters

Eduardo webinar was amazing, it's on FB Live and we will have the YouTube up soon. Remember to register for Ana in September https://Syngap.Fund/Ana SYNGAP1 is on the Compassionate Access List (CAL) for the SSA. This just happened and it's due to the work of one of our families, thank you! https://Syngap.Fund/SSA Great scientist conversations this week. New researcher looking into SYNGAP1, connecting with local families Rockstars reviewing a multi-gene grant One senior scientist called to say he's got Fish and we should let people know. Stories I will tell to help bring home how not simple this life is. Jadyne https://www.facebook.com/whatweneedyesterday Kyle https://www.youtube.com/channel/UCCbBNmkHLwba--nQ8LX0WCQ Carter https://www.youtube.com/watch?v=f6DsFUz-6HM Emmitt https://www.youtube.com/watch?v=tOampbK0uy0 Amelia https://www.youtube.com/watch?v=gvwJqF_kuBI What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

August 20, 2021

Telling our story and why it matters.

Episode 23 of #Syngap10 - August 10th, 2021Eduardo webinar was amazing, it's on FB Live and we will have the YouTube up soon. Remember to register for Ana in September https://Syngap.Fund/AnaSYNGAP1 is on the Compassionate Access List (CAL) for the SSA. This just happened and it's due to the work of one of our families, thank you! https://Syngap.Fund/SSA Great scientist conversations this week. New researcher looking into SYNGAP1, connecting with local families Rockstars reviewing a multi-gene grant One senior scientist called to say he's got Fish and we should let people know. Stories I will tell to help bring home how not simple this life is. Jadyne https://www.facebook.com/whatweneedyesterday Kyle https://www.youtube.com/channel/UCCbBNmkHLwba--nQ8LX0WCQ Carter https://www.youtube.com/watch?v=f6DsFUz-6HM Emmitt https://www.youtube.com/watch?v=tOampbK0uy0 Amelia https://www.youtube.com/watch?v=gvwJqF_kuBI What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10#Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics

August 20, 2021

#SYNGAP10 – Episode 22 – August 13th, 2021 – Webinars, mugs, Blog, GCs, Ciitizen, Cure, OUAG, CTR

- Webinars -https://Syngap.fund/eduardo August 19 at 10 am PST -https://Syngap.fund/ana Sept 2 at 10 am PST - Mugs mugs mugs -https://twitter.com/AAledo/status/1426207246149636099 - Blog: Genetics article is a must read for new families - https://www.syngapresearchfund.org/post/what-should-i-ask-in-my-genetics-appointment-for-syngap1 - Genetic Counselors - Tell me about your experience - What do they need to know? - Hug them - Ciitizen - Count 110 + 12, let's keep going, 28 spots left! - Panel https://www.facebook.com/cureSYNGAP1/videos/221755526409431/ - Sign up https://ciitizen.com/syngap1 - Cure - Rarebase article https://www.rarebase.org/post/what-does-it-mean-to-find-a-cure-for-a-disease - See episode 19. Yes, we need to reach for this - We may not know what is coming, but we need to work for it - One Upon a Gene - 94 https://effieparks.com/podcast/episode-094-mike-and-nasha - 41 https://effieparks.com/podcast/episode-41-syngap-research-fund - Cures go through clinical trials. Get ready: https://syngap.fund/ctr - $36k! --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

August 16, 2021

Webinars, Mugs, Blog, GCs, Ciitizen, Cure, OUAG, CTR

Episode 22 of #Syngap10 - August 13th, 2021 - Webinars -https://Syngap.fund/eduardo August 19 at 10 am PST -https://Syngap.fund/ana Sept 2 at 10 am PST - Mugs mugs mugs -https://twitter.com/AAledo/status/1426207246149636099 - Blog: Genetics article is a must read for new families - https://www.syngapresearchfund.org/post/what-should-i-ask-in-my-genetics-appointment-for-syngap1 - Genetic Counselors - Tell me about your experience - What do they need to know? - Hug them - Ciitizen - Count 110 + 12, let's keep going, 28 spots left! - Panel https://www.facebook.com/cureSYNGAP1/videos/221755526409431/ - Sign up https://ciitizen.com/syngap1 - Cure - Rarebase article https://www.rarebase.org/post/what-does-it-mean-to-find-a-cure-for-a-disease - See episode 19. Yes, we need to reach for this - We may not know what is coming, but we need to work for it - One Upon a Gene - 94 https://effieparks.com/podcast/episode-094-mike-and-nasha - 41 https://effieparks.com/podcast/episode-41-syngap-research-fund - Cures go through clinical trials. Get ready: https://syngap.fund/ctr - $36k!

August 13, 2021

#SYNGAP10 – Episode 21 – August 2, 2021 – Connection is everything!

#SYNGAP10 - Episode 21 - August 2, 2021 - Connection is everything! -Thank you for all the connections this week! -San Diego with the Harding Family -https://www.facebook.com/groups/SyngapResearchFund/posts/810210336527359 -New Jersey with Nancy Lieb Kessler -https://www.thesandpaper.net/articles/genetic-testing-solves-a-familys-medical-mystery/ -Ashley in Boston -https://twitter.com/SYNGAP1mom/status/1420457356836495360 -Juan and Vicky did a wonderful video! -https://www.youtube.com/watch?v=T_W_3IuJCrI -https://fb.watch/78guUyW3pp/ -Support our current effort at https://syngap.fund/CTR -Subscribe to this podcast at https://syngap.fund/10 --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

August 3, 2021

Connection is everything!

#SYNGAP10 - Episode 21 - August 2, 2021 - Connection is everything! -Thank you for all the connections this week! -San Diego with the Harding Family -https://www.facebook.com/groups/SyngapResearchFund/posts/810210336527359 -New Jersey with Nancy Lieb Kessler -https://www.thesandpaper.net/articles/genetic-testing-solves-a-familys-medical-mystery/ -Ashley in Boston -https://twitter.com/SYNGAP1mom/status/1420457356836495360 -Juan and Vicky did a wonderful video! -https://www.youtube.com/watch?v=T_W_3IuJCrI -https://fb.watch/78guUyW3pp/ -Support our current effort at https://syngap.fund/CTR -Subscribe to this podcast at https://syngap.fund/10

August 3, 2021

#SYNGAP10 – Episode 20 – July 23, 2021 – – Great things afoot! Join us.

Thank you to you know who you are, & welcome to three new families this week! https://syngap.fund/CTR is happening, worked on data this week https://ciitizen.com/SYNGAP1 sign up, we are filling cohort 3! Next grant on drug discovery is already in the works A few announcements Wed July 28 - San Diego, see you next week Sunday August 1 - Gathering in Jersey Tuesday August 24 - UC Davis meet the researchers Interested in getting a service dog? https://www.meridusk9.com/ Make sure you track us on social: @cureSYNGAP1 on all platforms Look for a cool podcast on August 5th with Mike & Nasha, be sure to follow OUAG: https://effieparks.com/podcast --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

July 23, 2021

Great things afoot! Join us. – Episode 20 of #Syngap10 – July 23rd, 2021

#SYNGAP10 - Episode 20 - July 23, 2021 - Great things afoot! Join us. Thank you to you know who you are, & welcome to three new families this week! https://syngap.fund/CTR is happening, worked on data this week https://ciitizen.com/SYNGAP1 sign up, we are filling cohort 3! Next grant on drug discovery is already in the works A few announcements Wed July 28 - San Diego, see you next week Sunday August 1 - Gathering in Jersey Tuesday August 24 - UC Davis meet the researchers Interested in getting a service dog? https://www.meridusk9.com Make sure you track us on social: @cureSYNGAP1 on all platforms Look for a cool podcast on August 5th with Mike & Nasha, be sure to follow OUAG: https://effieparks.com/podcast

July 23, 2021

#SYNGAP10 – Ep. 19 – Let’s @cureSYNGAP1

-Working with Duke on the ORCA, let us know about your SYNGAPian here https://syngap.fund/comms -Ciitizen, we are in the 3rd cohort, sign up quick: https://ciitizen.com/SYNGAP1 -Still fundraising for https://syngap.fund/ctr -All social media is now on @cureSYNGAP1 -https://Facebook.com/cureSYNGAP1 -https://Twitter.com/cureSYNGAP1 -https://Linkedin.com/company/curesyngap1 -https://Instagram.com/curesyngap1 -https://Tiktok.com/@curesyngap1 -https://YouTube.com/c/@cureSYNGAP1 -Yep, we said it, and we mean it. -Subscribe to this podcast at https://syngap.fund/10 --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

July 16, 2021

Let’s @cureSYNGAP1 – Episode 19 of #Syngap10 – July 16th, 2021

-Working with Duke on the ORCA, let us know about your SYNGAPian here https://syngap.fund/comms -Ciitizen, we are in the 3rd cohort, sign up quick: https://ciitizen.com/SYNGAP1 -Still fundraising for https://syngap.fund/ctr -All social media is now on @cureSYNGAP1 -https://Facebook.com/cureSYNGAP1 -https://Twitter.com/cureSYNGAP1 -https://Linkedin.com/company/curesyngap1 -https://Instagram.com/curesyngap1 -https://Tiktok.com/@curesyngap1 -https://YouTube.com/c/@cureSYNGAP1 -Yep, we said it, and we mean it. -Subscribe to this podcast at https://syngap.fund/10

July 16, 2021

#SYNGAP10 – Ep. 18 – “Seizures, Communication, Behavior, Sleep, Other” Is that right?

https://Syngap.Fund/CTR - $26k and growing. Birthday Fundraisers, $25 per $250, we will find and thank you! https://Syngap.Fund/blog - Make sure to read the latest on variants Events: Webinar & Meetups https://syngap.fund/webinar - Next week, Saturday, July 17th @ 9 Pacific. San Diego Family Meetup - SRF Syngap Meet-Up, July 28th @ 3 pm, Details in SRF NA Group. Beach Haven, NJ Meetup - August 1st 11-5, details in the SRF NY Group. Caren will come! https://Syngap.Fund/caren t-shirts. 121 Warriors - https://syngap.fund/warrior - Egypt, Texas, Quebec & Argentina. Great work. We are working on a poster for a meeting, stay tuned, we are learning it’s not easy to explain this life… a couple of stories Order of Symptoms 8 weeks from Seizure to Dx in Ireland, wow, 3.5. Great work Temple St, Dublin. Meds overload. Always check levels and loop with doctors… --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

July 10, 2021

”Seizures, Communication, Behavior, Sleep, Other” Is that right? – Episode 18 of #Syngap10 – July 9th, 2021

#SYNGAP10 - Ep. 18 - "Seizures, Communication, Behavior, Sleep, Other" Is that right? https://Syngap.Fund/CTR - $26k and growing. Birthday Fundraisers, $25 per $250, we will find and thank you! https://Syngap.Fund/blog - Make sure to read the latest on variants Events: Webinar & Meetups https://syngap.fund/webinar - Next week, Saturday, July 17th @ 9 Pacific. San Diego Family Meetup - SRF Syngap Meet-Up, July 28th @ 3 pm, Details in SRF NA Group. Beach Haven, NJ Meetup - August 1st 11-5, details in the SRF NY Group. Caren will come! https://Syngap.Fund/caren t-shirts. 121 Warriors - https://syngap.fund/warrior - Egypt, Texas, Quebec & Argentina. Great work. We are working on a poster for a meeting, stay tuned, we are learning it’s not easy to explain this life… a couple of stories Order of Symptoms 8 weeks from Seizure to Dx in Ireland, wow, 3.5. Great work Temple St, Dublin. Meds overload. Always check levels and loop with doctors…

July 10, 2021

#SYNGAP10 – Episode 17 – 2 July 2021 – Let’s get to work for these 808 kids!

#SYNGAP10 - Episode 17 - 2 July 2021 - Thanks for listening, now please share! - Newsletter: https://Syngap.Fund/July - Census: https://Syngap.Fund/Census Honestly, it’s low. Remember Covid. - Frazier: 7/17 9 AM https://www.syngapresearchfund.org/webinars/improving-the-assessment-of-syngap1-by-creating-online-measures-for-parents-and-patients - Palma: 8/19 10 AM https://www.syngapresearchfund.org/webinars/interpretation-of-syngap1-variants-srf - Just talking yesterday to someone who redid testing: Genetic Testing needs to be updated every few years. - July 1 paper: “We strongly recommend that ES/GS be considered as a first- or second-tier test for patients with CA/DD/ID.” https://www.nature.com/articles/s41436-021-01242-6 - Time for some fundraising: https://Syngap.Fund/CTR Deal done, Board reviewed. Post-docs staffed. Let’s make it happen… everyone can help. - Remember, SRF is the best deal ever: https://syngap.fund/smartdonors - Subscribe at https://syngap.fund/10 --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

July 2, 2021

Let’s get to work for these 808 kids! – Episode 17 of #Syngap10 – July 2nd, 2021

#SYNGAP10 - Episode 17 - 2 July 2021 - Thanks for listening, now please share! - Newsletter: https://Syngap.Fund/July - Census: https://Syngap.Fund/Census Honestly, it’s low. Remember Covid. - Frazier: 7/17 9 AM https://www.syngapresearchfund.org/webinars/improving-the-assessment-of-syngap1-by-creating-online-measures-for-parents-and-patients - Palma: 8/19 10 AM https://www.syngapresearchfund.org/webinars/interpretation-of-syngap1-variants-srf - Just talking yesterday to someone who redid testing: Genetic Testing needs to be updated every few years. - July 1 paper: “We strongly recommend that ES/GS be considered as a first- or second-tier test for patients with CA/DD/ID.” https://www.nature.com/articles/s41436-021-01242-6 - Time for some fundraising: https://Syngap.Fund/CTR Deal done, Board reviewed. Post-docs staffed. Let’s make it happen… everyone can help. - Remember, SRF is the best deal ever: https://syngap.fund/smartdonors - Subscribe at https://syngap.fund/10

July 2, 2021

#SYNGAP10 – Episode 16 – 25 June 2021 – Put your mask on first.

#SYNGAP10 - Episode 16 - 25 June 2021 REMINDER - Put your own mask on first. THANKS - #syngapLOVE photos were great, check out our header image THANKS - DISORDER Channel - Thank you for Dad’s mention. https://www.facebook.com/rarediseasefilmfestival/videos/924558798278718 GIVE - https://Syngap.Fund/CTR - We need to raise some money folks! WORK - Fundraisers are getting real, need to organize some events, email [email protected] PROGRESS - Ciitizens got gift cards! Yeah, sign up now. Ciitizen.com/SYNGAP1 STORY - ICD-10 Story of two codes: F78.A1 is our one and only code. https://syngap.fund/icd10 --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

June 25, 2021

Put your mask on first. – Episode 16 of #Syngap10 – June 25, 2021

#SYNGAP10 - Episode 16 - 25 June 2021 REMINDER - Put your own mask on first. THANKS - #syngapLOVE photos were great, check out our header image THANKS - DISORDER Channel - Thank you for Dad’s mention. https://www.facebook.com/rarediseasefilmfestival/videos/924558798278718 GIVE - https://Syngap.Fund/CTR - We need to raise some money folks! WORK - Fundraisers are getting real, need to organize some events, email [email protected] PROGRESS - Ciitizens got gift cards! Yeah, sign up now. Ciitizen.com/SYNGAP1 STORY - ICD-10 Story of two codes: F78.A1 is our one and only code. https://syngap.fund/icd10

June 25, 2021

#SYNGAP10 – Ep. 15 – 18 July 2021 – Splash & #SYNGAPlove in 3 days, DSC & BCH Grants, more ICD attention!

#SPLASH4SYNGAP is on MONDAY. 3 days until June 21st! Take photos with the flyer https://syngap.fund/love = https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap Use hashtag #SYNGAPlove & #Splash4SYNGAP DSC & BCH - It’s go time! Let’s raise some funds. Read the blogs Syngap.fund/biomarker = https://www.syngapresearchfund.org/post/srf-grant-to-boston-childrens-for-natural-history-biomarker-development Syngap.fund/BCH = https://www.syngapresearchfund.org/post/srf-grant-to-boston-childrens-for-natural-history-biomarker-development ICD-10 EveryLife case study! https://everylifefoundation.org/icd-code-roadmap/#toggle-id-13 Dravet Business Cards. Copying is great! Copy us. ONE YEAR SOONER: Reminder why all this matters https://www.syngapresearchfund.org/post/oneyearsooner ORCA: Via CB we are in. Stay tuned here. SYNGAP1 is one of the validation teams Rett Press Release https://www.prweb.com/releases/rett_syndrome_research_trust_announces_development_o[…]on_ability_of_individuals_with_rett_syndrome/prweb18012275.htm DUKE FDA GRANT https://populationhealth.duke.edu/news/orca-measure-expands-more-neurodevelopmental-diseases GRANDPARENTS group is going strong Tell your parents about https://syngap.fund/grand = https://www.syngapresearchfund.org/post/loving-a-grandchild-with-syngap1 Also had the c.333del (6!) and regular wednesday bit.ly/SRFHH at 5 PM Pacific. --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

June 18, 2021

Splash & #SYNGAPlove in 3 days, DSC & BCH Grants, more ICD attention! – Episode 15 of #Syngap10 – July 18th, 2021

#SPLASH4SYNGAP is on MONDAY. 3 days until June 21st! Take photos with the flyer https://syngap.fund/love = https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap Use hashtag #SYNGAPlove & #Splash4SYNGAP DSC & BCH - It’s go time! Let’s raise some funds. Read the blogs Syngap.fund/biomarker = https://www.syngapresearchfund.org/post/srf-grant-to-boston-childrens-for-natural-history-biomarker-development Syngap.fund/BCH = https://www.syngapresearchfund.org/post/srf-grant-to-boston-childrens-for-natural-history-biomarker-development ICD-10 EveryLife case study! https://everylifefoundation.org/icd-code-roadmap/#toggle-id-13 Dravet Business Cards. Copying is great! Copy us. ONE YEAR SOONER: Reminder why all this matters https://www.syngapresearchfund.org/post/oneyearsooner ORCA: Via CB we are in. Stay tuned here. SYNGAP1 is one of the validation teams Rett Press Release https://www.prweb.com/releases/rett_syndrome_research_trust_announces_development_o[…]on_ability_of_individuals_with_rett_syndrome/prweb18012275.htm DUKE FDA GRANT https://populationhealth.duke.edu/news/orca-measure-expands-more-neurodevelopmental-diseases GRANDPARENTS group is going strong Tell your parents about https://syngap.fund/grand = https://www.syngapresearchfund.org/post/loving-a-grandchild-with-syngap1 Also had the c.333del (6!) and regular wednesday bit.ly/SRFHH at 5 PM Pacific.

June 18, 2021

#SYNGAP10 – Ep. 14 – 11 June 2021 – Community and #SYNGAPlove

- We are seeing some great photos! https://Syngap.fund/Love which is https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap #SyngapLove COMMUNITY - I don’t want the questions. It’s hard to go out in public, our kids are so damn cute. - Connecting on a gene/geno pheno. https://www.syngapresearchfund.org/post/understanding-your-genetic-report-with-syngap1-a-rare-disease BLOGS - Check out life expectancy blog. https://www.syngapresearchfund.org/post/whats-the-life-expectancy-of-someone-with-syngap1 - SRF Equine Therapy Articles, http://syngap.fund/horse which is https://www.syngapresearchfund.org/post/hippotherapy-equine-therapy-syngap1 UPENN - Thx Dr. Heller for your impressive progress report! - Speaking of UPenn! #MDBR21SRF tomorrow! Thanks Aaron Harding and support the team at Syngap.Fund/GIVE - Coba Press Release https://syngap.fund/coba2 - #Rarecast with Nasha Fitter of Ciitizen. https://syngap.fund/RCNF - Sign up for Ciitizen: Ciitizen.com/SYNGAP1 --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

June 12, 2021

Community and #SYNGAPlove – Episode 14 of #Syngap10 – June 11, 2021

- We are seeing some great photos! https://Syngap.fund/Love which is https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap #SyngapLove COMMUNITY - I don’t want the questions. It’s hard to go out in public, our kids are so damn cute. - Connecting on a gene/geno pheno. https://www.syngapresearchfund.org/post/understanding-your-genetic-report-with-syngap1-a-rare-disease BLOGS - Check out life expectancy blog. https://www.syngapresearchfund.org/post/whats-the-life-expectancy-of-someone-with-syngap1 - SRF Equine Therapy Articles, http://syngap.fund/horse which is https://www.syngapresearchfund.org/post/hippotherapy-equine-therapy-syngap1 UPENN - Thx Dr. Heller for your impressive progress report! - Speaking of UPenn! #MDBR21SRF tomorrow! Thanks Aaron Harding and support the team at Syngap.Fund/GIVE - Coba Press Release https://syngap.fund/coba2 - #Rarecast with Nasha Fitter of Ciitizen. https://syngap.fund/RCNF - Sign up for Ciitizen: Ciitizen.com/SYNGAP1

June 12, 2021

Newsletter, SSB, Ciitizen growth, Frazier, Sprint, ICD-10 & you are not alone. – Episode 6 of #Syngap10 – April 16th, 2021

SYNGAP10 - Ep. 6 - 16 April 2021 SRF Newsletter yesterday, make sure you sign up! SSB is off and running. Webinars, another tomorrow in Spanish Sprint next Saturday - April 24th Celebrating Caren is now live and about to go on the circuit thanks Nancy, Daniel & illumina SSB - Seizure sleep and behavior Do the surveys! Links are in the newsletter and here: syngap.fund/ssb-Behavior syngap.fund/ssb-sleep syngap.fund/ST STXBP1 has joined ciitizen - Now they are joining SYNGAP1, FOXG1 Tess Research (slc13a5), RettSCN2A via Praxis, SCN8A & BPAN Tom Frazier (Autism Speaks, CSO) has completed Phase 1 of NET, now working on the tool. He was just on the Today Show 2 weeks ago. - Here we are partnering with Malan, PTEN & ADNP. Sprint4Syngap is going strong: $69k+! Way to go #TeamMyla! FondoSyngap.org is live, great work Vicky & Marta! We asked for an ICD10 code over a year ago - CDKL5, Dravet, Angleman's all have one, what's going on? You’re not alone, reach out: [email protected]

June 7, 2021

SYNGAP10 – Ep. 13 – The things we do for LOVE!

Birthday Fundraiser was a great success! https://syngap.fund/m46 Make sure to watch this video from Brett - https://youtu.be/pp9_hTvr2eM ILOVE SOMEONE WITH SYNGAP1 https://syngap.fund/love aka https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap Learn more at SyngapResearchFund.org --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

June 4, 2021

The things we do for LOVE! – Episode 13 of #Syngap10 – June 4th, 2021

Birthday Fundraiser was a great success! https://syngap.fund/m46 Make sure to watch this video from Brett - https://youtu.be/pp9_hTvr2eM ILOVE SOMEONE WITH SYNGAP1 https://syngap.fund/love aka https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap Learn more at SyngapResearchFund.org

June 4, 2021

SynGAP10 – Ep. 12 – 28 May 2021 – IPSCs, Ciitizens, Sleep Webinar, NET Webinar, Birthday Party on FB!

Subscribe to the podcast! https://syngap.fund/10 = https://www.syngapresearchfund.org/syngap10-podcast We are making IPSCs! https://syngap.fund/ipsc = https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments Join the largest SYNGAP1 study on earth https://syngap.fund/nhs Learn more at https://syngap.fund/rarex Watch our Webinars! https://syngap.fund/webinar = https://www.syngapresearchfund.org/families/resources/webinars - https://syngap.fund/aten Thurs June 10th @ 10 PST - https://syngap.fund/drtf Sat July 17th @ 9 PST - Learn more at https://syngap.fund/FrazierPR - and https://syngap.fund/Frazier My birthday fundraiser, please give, I will match every dollar: https://syngap.fund/m46 --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

May 28, 2021

IPSCs, Ciitizens, Sleep Webinar, NET Webinar, Birthday Party on FB! – Episode 12 of #Syngap10 – May 28th, 2021

SynGAP10 - Ep. 12 - 28 May 2021 - IPSCs, Ciitizens, Sleep Webinar, NET Webinar, Birthday Party on FB! Subscribe to the podcast! https://syngap.fund/10 = https://www.syngapresearchfund.org/syngap10-podcast We are making IPSCs! https://syngap.fund/ipsc = https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments Join the largest SYNGAP1 study on earth https://syngap.fund/nhs Learn more at https://syngap.fund/rarex Watch our Webinars! https://syngap.fund/webinar = https://www.syngapresearchfund.org/families/resources/webinars - https://syngap.fund/aten Thurs June 10th @ 10 PST - https://syngap.fund/drtf Sat July 17th @ 9 PST - Learn more at https://syngap.fund/FrazierPR - and https://syngap.fund/Frazier My birthday fundraiser, please give, I will match every dollar: https://syngap.fund/m46

May 28, 2021

SYNGAP10 – Ep. 11 – May 21st, 2021 – We must be hopeful. And it makes sense to be so.

Understand where science is today with Erik, https://podcasts.apple.com/us/podcast/rarecast/id954082143?i=1000519319382 Kyle’s tweet: Fundraising raises awareness. https://twitter.com/kyleabryant/status/1394413673016446981?s=21 Effie’s Once Upon a Gene episode: It’s Ok that your not OK https://effieparks.com/podcast/episode-080-megan-devine My birthday fundraiser: https://www.facebook.com/donate/465934367824427/4350219688321412/ List of things you can do for SRF: https://Syngap.fund/clicks Remember especially to tell us about the doctors you have seen via https://Syngap.Fund/docs Learn more at https://SyngapResearchFund.org --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

May 22, 2021

We must be hopeful – and it makes sense to be so. – Episode 11 of #Syngap10 – May 21st, 2021

SYNGAP10 - Episode 11 - May 21st, 2021 - We must be hopeful - and it makes sense to be so. Understand where science is today with Erik, https://podcasts.apple.com/us/podcast/rarecast/id954082143?i=1000519319382 Kyle’s tweet: Fundraising raises awareness. https://twitter.com/kyleabryant/status/1394413673016446981 Effie’s Once Upon a Gene episode: It’s Ok that your not OK https://effieparks.com/podcast/episode-080-megan-devine My birthday fundraiser: https://www.facebook.com/donate/465934367824427/4350219688321412/ List of things you can do for SRF: https://Syngap.fund/clicks Remember especially to tell us about the doctors you have seen via https://Syngap.Fund/docs https://SyngapResearchFund.org

May 22, 2021

SYNGAP10 – Ep. 10 – 14 May 2021 – Scales, Grands, Ciitizens, Kayo, iPSC

SYNGAP10 - Ep. 10 - 14 May 2021 - Scales, Grands, Ciitizens, Kayo, iPSC Validated Scales - Congrats to the ORCA Team at Duke https://syngap.fund/orca - Join Dr. Frazier to learn more about the NET www.syngapresearchfund.org/families/resources/webinars Grand parents article https://syngap.fund/grand - Thank you Barbara for this article https://www.syngapresearchfund.org/post/loving-a-grandchild-with-syngap1 - Join the Group there is a link in the article - Peer connection is so key Ciitizen - US sign ups continue! Every patient matters/. https://www.ciitizen.com/syngap1/ - International is open! Same link, but you must collect and upload. Ashley Evans, the co-founder of SRF, gave an interview with Kayo - https://Syngap.fund/Kayo IPSCs - We are in the home stretch of accelerating treatments via making iPSCs available --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

May 14, 2021

Scales, Grands, Ciitizens, Kayo, iPSC – Episode 10 of #Syngap10 – May 14th, 2021

SYNGAP10 - Ep. 10 - 14 May 2021 - Scales, Grands, Ciitizens, Kayo, iPSC Validated Scales Congrats to the ORCA Team at Duke https://syngap.fund/orca Join Dr. Frazier to learn more about the NET www.syngapresearchfund.org/families/resources/webinars Grand parents article https://syngap.fund/grand Thank you Barbara for this article https://www.syngapresearchfund.org/post/loving-a-grandchild-with-syngap1 Join the Group there is a link in the article - Peer connection is so key Ciitizen US sign ups continue! Every patient matters/. https://www.ciitizen.com/syngap1/ International is open! Same link, but you must collect and upload. Ashley Evans, the co-founder of SRF, gave an interview with Kayo - https://Syngap.fund/Kayo IPSCs - We are in the home stretch of accelerating treatments via making iPSCs available

May 14, 2021

SynGAP10 – Ep. 9 – 7 May 2021 – Adults, New parents, ABA, Missense and Money

In this episode, Mike reflected on a conversations with and questions from SYNGAP parents who have responded to previous episodes of SYNGAP10. As usual, it was packed. Thanks to DISORDER for listing SYNGAP10 as one of the best Rare Disease podcasts. We are honored. https://www.rarediseasefilmfestival.com/rarediseasepodcasts Reflections on conversation with parents, especially the parents of Adult SynGAPians. We had a great webinar this week with Lori Unumb about ABA, Autism and Advocacy, you can view it on our webinars page https://www.syngapresearchfund.org/families/resources/webinars Next week we will have a great webinar with Prof. Haas of UBC about missense mutations. Don't miss it. https://www.syngapresearchfund.org/webinars/functional-assessment-of-missense-variants-of-syngap1-kurt-haas Ciitizen continues to grow, sign up at https://Ciitizen.com/SYNGAP1 Mike answered a great question about cost and access. Explaining why we are hopeful that payers will support our therapies. --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

May 7, 2021

Adults, New parents, ABA, Misense and Money – Episode 9 of #Syngap10 – May 7th, 2021

In this episode, Mike reflected on a conversations with and questions from SYNGAP parents who have responded to previous episodes of SYNGAP10. As usual, it was packed. Thanks to DISORDER for listing SYNGAP10 as one of the best Rare Disease podcasts. We are honored. https://www.rarediseasefilmfestival.com/rarediseasepodcasts Reflections on conversation with parents, especially the parents of Adult SynGAPians. We had a great webinar this week with Lori Unumb about ABA, Autism and Advocacy, you can view it on our webinars page https://www.syngapresearchfund.org/families/resources/webinars Next week we will have a great webinar with Prof. Haas of UBC about missense mutations. Don't miss it. https://www.syngapresearchfund.org/webinars/functional-assessment-of-missense-variants-of-syngap1-kurt-haas Ciitizen continues to grow, sign up at https://Ciitizen.com/SYNGAP1 Mike answered a great question about cost and access. Explaining why we are hopeful that payers will support our therapies.

May 7, 2021

SYNGAP10 – Ep. 8 – BREAKING NEWS 🚨re ICD-10 & other goodness around #SSB30 & #sprint4syngap

This episode is an absolute must. Don't miss it. - Reminder that #SSB30 is happening now, the first pharma sponsored study on #ciitizen. If you are enrolled in Ciitizen, start doing your seizure tracker today: 🔗 https://Syngap.Fund/ST - If you have not yet signed up for Ciitizen, there is still time, it's free: https://www.ciitizen.com/syngap1/ - 🚨 Breaking: We have reason to believe that we will get an ICD-10 code in June, effective 10/1/21. This is a big deal. Background link: https://www.syngapresearchfund.org/post/syngap-could-have-an-icd-10-code-f78-a1-as-soon-as-next-year Referenced link from podcast: https://www.cms.gov/medicare/acute-inpatient-pps/fy-2022-ipps-proposed-rule-home-page - #Sprint4Syngap raised $122,500+. Huge thanks to everyone. Two great videos of the community building that took place are: Colombia 🇨🇴 https://youtu.be/4jYGJJnbLf8 Boston https://youtu.be/edlfSW1kvKE - Welcome to 4 new families just diagnosed in the past week. 🤯 - If you want to support SRF, call us, there is some much good work to do! This is a podcast, sign up via your favorite service or watch previous episodes at: https://www.syngapresearchfund.org/syngap10-podcast --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

April 30, 2021

BREAKING NEWS 🚨re ICD-10 & other goodness around #SSB30 & #sprint4syngap – Episode 8 of #Syngap10 – April 30th, 2021

SYNGAP10 - Episode 8 - BREAKING NEWSThis episode is an absolute must. Don't miss it. - Reminder that #SSB30 is happening now, the first pharma sponsored study on #ciitizen. If you are enrolled in Ciitizen, start doing your seizure tracker today:🔗 https://Syngap.Fund/ST - If you have not yet signed up for Ciitizen, there is still time, it's free: https://www.ciitizen.com/syngap1/ - 🚨 Breaking: We have reason to believe that we will get an ICD-10 code in June, effective 10/1/21. This is a big deal. Background link: https://www.syngapresearchfund.org/post/syngap-could-have-an-icd-10-code-f78-a1-as-soon-as-next-year Referenced link from podcast: https://www.cms.gov/medicare/acute-inpatient-pps/fy-2022-ipps-proposed-rule-home-page - #Sprint4Syngap raised $122,500+. Huge thanks to everyone. Two great videos of the community building that took place are: Colombia 🇨🇴 https://youtu.be/4jYGJJnbLf8 Boston https://youtu.be/edlfSW1kvKE - Welcome to 4 new families just diagnosed in the past week. 🤯 - If you want to support SRF, call us, there is some much good work to do! This is a podcast, sign up via your favorite service or watch previous episodes at: https://www.syngapresearchfund.org/syngap10-podcast

April 30, 2021

#Syngap10 – Episode 7 – 23 April 2021

Syngap.Fund/Sprint We have raised $104k, so far! Look for the #sprint4syngap tomorrow! Thanks to Henry Anderson of the Pats for a shoutout! The fund will go to an upcoming grant at BCH EEG Biomarker work Analysis of Ciitizen data into a study Ciitizen either sign up ciitizen.com/SYNGAP1 or join the survey syngap.fund/ST We had meetings with CB, PMC, ELCC & REN this week. Help SRF by going to syngap.fund/clicks and tell us about your syngap.fund/docs Reach out to us if you want to Volunteer Thanks for listening to SYNGAP10 --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

April 23, 2021

Sprint. BCH. Ciitizen. Meetings. Clicks. Docs. Wed. Volunteer! – Episode 7 of #Syngap10 – April 23rd, 2021

#Syngap10 - Episode 7 - 23 April 2021 Syngap.Fund/Sprint We have raised $104k, so far! Look for the #sprint4syngap tomorrow! Thanks to Henry Anderson of the Pats for a shoutout! The fund will go to an upcoming grant at BCH EEG Biomarker work Analysis of Ciitizen data into a study Ciitizen either sign up ciitizen.com/SYNGAP1 or join the survey syngap.fund/STWe had meetings with CB, PMC, ELCC & REN this week.Help SRF by going to syngap.fund/clicks and tell us about your syngap.fund/docsReach out to us if you want to Volunteer at SyngapResearchFund.org

April 23, 2021

SYNGAP10 – Ep. 6 – 16 April 2021 – Newsletter, SSB, Ciitizen growth, Frazier, Sprint, ICD-10 & you are not alone.

SRF Newsletter yesterday, make sure you sign up! SSB is off and running. Webinars, another tomorrow in Spanish Sprint next Saturday - April 24th Celebrating Caren is now live and about to go on the circuit thanks Nancy, Daniel & illumina SSB - Seizure sleep and behavio Do the surveys! Links are in the newsletter and here: syngap.fund/ssb-Behavior syngap.fund/ssb-sleep syngap.fund/ST STXBP1 has joined ciitizen - Now they are joining SYNGAP1, FOXG1 Tess Research (slc13a5), Rett SCN2A via Praxis, SCN8A & BPAN Tom Frazier (Autism Speaks, CSO) has completed Phase 1 of NET, now working on the tool. He was just on the Today Show 2 weeks ago. - Here we are partnering with Malan, PTEN & ADNP. Sprint4Syngap is going strong: $69k+! Way to go #TeamMyla! FondoSyngap.org is live, great work Vicky & Marta! We asked for an ICD10 code over a year ago - CDKL5, Dravet, Angleman's all have one, what's going on? You’re not alone, reach out: [email protected] --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

April 17, 2021

EEG Biomarkers, SSB Study, Ciitizen, CNF Survey, Sprint4Syngap – Episode 5 of #Syngap10 – April 9th, 2021

Get ready for the SSB Ciitizen study launching next week! Sign up for a webinar via Syngap.Fund/SSB

April 9, 2021

SYNGAP10 – Ep. 5 – 9 April 2021 – EEG Biomarkers, SSB Study, Ciitizen, CNF Survey, Sprint4Syngap

Biomarker EEG work - very exciting IPSCs - Prime editing, Base editing, tRNA etc. Based on Ciitizen data! SSB30 Webinar! Check it out on April 15th. https://syngap.fund/ssb Seizure, Sleep & Behavior Ciitizen 103 signed up, 8 are VUS, 95 spots used, 5 TO GO. Sign up now: Ciitizen.com/SYNGAP1 CNF Caregiver survey, due April 23rd. https://syngap.fund/cnf Kids don't get Dx'd, families do. Grandparent article who wants to talk to Barbara? https://syngap.fund/grand Sprint! Bakers dozen 13 groups over $1k! 62K+ https://syngap.fund/sprint Reminders: Enzo 8, Brazil, was our Warrior this week. http://syngap.fund/warriors Also two webinars coming up http://syngap.fund/webinar GI on 4/22 and Advocacy on 5/6. --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

April 9, 2021

SYNGAP10 – Ep. 4 – 2 April 2021 – Ciitizen Study happening! #SyngapCensus = 762, Caren, Kyle & Sprint4Syngap

SYNGAP10, episode 4, 2 April 2021 starts with incredible news about a forthcoming study. Ciitizen survey pre-trial is signed! Coming soon, look for an email. If you have not joined, ciitizen.com/SYNGAP1 #SyngapCensus = 762 Caren movie is up - great work on subtitles This week alone - 2 companies, 2 labs, 1 wed warrior Kyle from ohio, 15 - One amazing Webinar #Sprint4Syngap - We are doing well. Newsletter - Board announcement. Need some volunteers to write the newsletter! --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

April 2, 2021

Ciitizen Study happening! #SyngapCensus = 762, Caren, Kyle & Sprint4Syngap – Episode 4 of #Syngap10 – April 2nd, 2021

SYNGAP10, episode 4, 2 April 2021 starts with incredible news about a forthcoming study. Ciitizen survey pre-trial is signed! Coming soon, look for an email. If you have not joined, ciitizen.com/SYNGAP1 #SyngapCensus = 762 Caren movie is up - great work on subtitles This week alone - 2 companies, 2 labs, 1 wed warrior Kyle from ohio, 15 - One amazing Webinar #Sprint4Syngap - We are doing well. Newsletter - Board announcement. Need some volunteers to write the newsletter!

April 2, 2021

SYNGAP10 – Ep 3 – 29 March 2021 – Webinars, Warriors, Work, Caren subtitles & Sprint4Synga‪p‬

Webinars: Jo, SRFCC1 and so many others are up our beautiful YouTube channel Syngap.Fund/YouTube for the old ones Syngap.Fund/Webinar for the new ones. Warriors: Do you read them? Is your SynGAPian among them? SynGAP.Fund/Warriors Work: Do you have time to help? Know a film maker. Caren subtitles: we are working on them. Sprint4Syngap: we're upping the goal to $100k, we can do this. --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

March 27, 2021

Webinars, Warriors, Work, Caren subtitles & Sprint4Syngap – Episode 3 of #Syngap10 – March 29th, 2021

Webinars: Jo, SRFCC1 and so many others are up our beautitful YouTube channel Syngap.Fund/YouTube for the old ones Syngap.Fund/Webinar for the new ones. Warriors: Do you read them? Is your SynGAPian amoung them? SynGAP.Fund/Warriors Work: Do you have time to help? Know a filmaker. Caren subtitles: we are working on them. Sprint4Syngap: we‘re uping the goal to $100k, we can do this.

March 26, 2021

SYNGAP10 – Ep. 2 – 19 March 2021 – Mike updates Syngap Families on the work of SRF‪.‬

Check out the Eat. Sleep. Cure. Mug, love it! #Sprint4Syngap is going well, thanks to leading families and teams. Lots of webinars coming soon, don't miss next week with Jo syngap.fund/teendx Sign up for Ciitizen.com/SYNGAP1 Cell lines and biobanks. E4 sensors to researchers! CNF profiles our support group. Getting the next board together. Praxis earnings call Wahoodatt Fishing is awesome, check them out! https://wahoodatfishing.com/ SRF joins the American Brain Coalition. All in 10 minutes! --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

March 20, 2021

Mike updates Syngap Families on the work of SRF. – Episode 2 of #Syngap10 – March 19th, 2021

Check out the Eat. Sleep. Cure. Mug, love it! #Sprint4Syngap is going well, thanks to leading families and teams. Lots of webinars coming soon, don't miss next week with Jo syngap.fund/teendx Sign up for Ciitizen.com/SYNGAP1 Cell lines and biobanks. E4 sensors to researchers! CNF profiles our support group. Getting the next board together. Praxis earnings call Wahoodatt Fishing is awesome, check them out! https://wahoodatfishing.com/ SRF joins the American Brain Coalition. All in 10 minutes!

March 19, 2021

SYNGAP10 – Ep. 1 – 12 March 2021 – Mike Graglia updates Syngap Families on the work of SRF‪.‬

Mike's first episode! A quick update on the week in SYNGAP1, what the SynGAP Research Fund did this week on behalf of families. - Engaged with a new BioPharma company interested in starting a program on SYNGAP1. - Connected ANOTHER company with CIITIZEN.com/SYNGAP1 so that they can use the data we have to do a trial as quickly as possible. - How to sign up for CIITIZEN.com/SYNGAP1 - How #Sprint4Syngap is going - A preview of some work we are doing on drug discovery with Worms and Fish - A preview of work we are planning on EEG Biomarkers - Why biomarkers matter Learn more at www.SyngapResearchFund.org --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

March 13, 2021

Mike Graglia updates Syngap Families on the work of SRF. – Episode 1 of #Syngap10 – March 12th, 2021

Mike's first episode! A quick update on the week in SYNGAP1, what the SynGAP Research Fund did this week on behalf of families. - Engaged with a new BioPharma company interested in starting a program on SYNGAP1. - Connected ANOTHER company with CIITIZEN.com/SYNGAP1 so that they can use the data we have to do a trial as quickly as possible. - How to sign up for CIITIZEN.com/SYNGAP1 - How #Sprint4Syngap is going - A preview of some work we are doing on drug discovery with Worms and Fish - A preview of work we are planning on EEG Biomarkers - Why biomarkers matter Learn more at www.SyngapResearchFund.org

March 13, 2021

SYNGAP10

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