Newsletter
SYNGAP10

SYNGAP10

Weekly 10-minute updates on SYNGAP1 with Mike Graglia.

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
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SYNGAP10

SYNGAP10 is a 10-minute weekly blog to keep parents and families up-to-date on what the team at SynGAP Research Fund (SRF) is doing to advocate for patients & advance research into SYNGAP1. If you do nothing else, listen to or watch this and let us know what you think.

Host

Mike Graglia

Mike Graglia

Mike has always worked on complicated problems – he can’t help himself. So when his son was diagnosed with SYNGAP1 in 2018, he founded the SynGAP Research Fund and continues to lead it as a volunteer. In the broader Rare Neuro community, Mike serves on the Executive Board of COMBINEDbrain, is a member of the AES Epilepsy Research Benchmarks Stewards Committee and is the Co-Chair of the Innovation and Value Initiative 2022 Methods Summit. Mike comes from a career in public policy, international development and strategy. Previous roles have included establishing a new program at New America, a DC think tank, Budget & Planning at both the Gates Foundation & Emerson Collective, healthcare consulting at BCG, developing a tertiary education program with the World Bank Group, managing a refugee program for the International Catholic Migration Commission in Zimbabwe, and teaching math in Peace Corps Namibia. Graglia has an MBA from Columbia where he was a Bronfman Fellow, an MA from Johns Hopkins School of Advanced International Studies where he was a Soros Fellow, and a BS in mathematics from Gonzaga University, S.J. Graglia lives with his wife Ashley & two sons in Marin, California.

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