SYNGAP10

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

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

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

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

“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

#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

“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

#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

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

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

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

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  

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

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

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

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

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

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

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

*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

*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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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. 

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

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

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

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

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

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

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

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

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

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

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

-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

-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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

#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

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

#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

#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

#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

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

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

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

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

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

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

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

#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

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

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

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

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

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

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

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

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

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

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

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

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

  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

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

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

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

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 

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

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 

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 

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

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 

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

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

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 

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

#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 

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

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 

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

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

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

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

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

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

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

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

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

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

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

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 

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

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  

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 

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

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

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  

#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

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

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

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

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

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  

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

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

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

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

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

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

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

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

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

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

 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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