All #SYNGAP1 Families need to take part in our Natural History Studies: ProMMiS & Citizen #S10e198
About this episode
The episode discusses the importance of family participation in Natural History Studies for SYNGAP1 and highlights ongoing research efforts.
Thursday, February 5, 2026 - Week 6 Happy #RareDisease & #BlackHistory Month! #NaturalHistory means how this disease progresses. Reminder: We have only been at this for 17 years, first patients were identified via Hamdan, 2009. https://pubmed.ncbi.nlm.nih.gov/19196676/ Retrospective Digital NHS: cureSYNGAP1.org/Citizen (Growing list of tools available to families, for free) Prospective Multi-disciplinary Multi-site NHS: ProMMiS cureSYNGAP1.org/ProMMiS Reminder, only possible by CS1 support for non-CHOP sites and travel plus huge gift to Penn. https://www.chop.edu/news/25-million-gift-penn-medicine-and-children-s-hospital-philadelphia-establishes-center-epilepsy Potential for being a control arm in the future. Protocol: https://www.linkedin.com/posts/curesyngap1_syngap1-stxbp1-dee-activity-7425223573134327808-SVEQ & early data: https://pubmed.ncbi.nlm.nih.gov/40119723/ Join the ~160 families who have enjoyed excellent clinical care and contributed tot he future of SYNGAP1. Today, a 4 month old is going! CHOP: 119 new, V2- 67, V3- 32, V4- 10, V5- 4 CHCO: 37 new, V2- 7 Stanford: 8 new, V2- 2 Total: 164 (double counting one family who goes to multiple sites) Survey English…
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