DSC-III and Data - CURE SYNGAP1 is working tirelessly to increase SYNGAP1 Knowledge #S10e203
CURE SYNGAP1 PODCAST aka SYNGAP10
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Show Notes
Friday, April 3, 2026 - Week 14
Just back from the DSC-III Kickoff Meeting! As announced back in September 2025. Really strong group of clinicians.
https://dsc.rarediseasesnetwork.org/patient-advocacy-groups
More on DSC in #S10e184 https://curesyngap1.org/podcasts/syngap10/dsc-rdcrn-ncats-nih-press-aav-in-cell-srf-at-cb-scramble-for-syngap1-s10e184/
We will have sites at SYNGAP1 established doctors, Dr. Wiltrout at Boston Children's Hospital/Harvard, Dr. Holder at Baylor and our very own ProMMiS Doctors: Knowles at Stanford / Dr. Abbott at Colorado. AND, excitingly, these two new locations:
Rush University Medical Center (Rush) led by Dr. Dr. Liz Berry-Kravis.
University of Alabama at Birmingham led by Dr. Martina Bebin.
Interestingly we are paired with PMS aka SHANK3 so the comparisons will naturally arise. Both post-synaptic, they are a half step ahead of us. (We will catch up!) SHANK3 and SYNGAP1 have lots in commons: PSD, Synaptic Plasticity, mTOR. Differences, we have more epilepsy, they have more Catatonia (see Table 2 in Trelles 2026 https://pubmed.ncbi.nlm.nih.gov/41895438/).
After that I met with Dr. Xin Tang from BCH who is working on some exciting potential therapies and then over to CAMP4, who is moving at light speed.
ILAE Rare Epilepsy Big Data Task Force for 4 years! Makes me think about data…
Where does SYNGAP1 Data Live?
- Citizen.Health Retrospective
- ProMMiS Clinical
- Rare-X PRO
- Now the DSC will have both
- Combined Brain Registry and EEG Database.
- In Argentina SYNGAP1 Registry, potentially expanding to Chile and Colombia.
- In the EU there is PATRE part of EURAS.
- In the UK, it seems largely via NHS.
- In China, I don’t know but this paper shows us someone has 99 people: https://pubmed.ncbi.nlm.nih.gov/41914539/
- Where else?
SYNGAP1 is having a moment, we need project manager volunteers.
SPRINT FOR SYNGAP1, EVERYWHERE – 21 days - $132k!
Get on the map!
https://curesyngap1.org/calendar/sprint4syngap-2026
INAUGURAL SF NIGHT OF IMPACT, CA – 55 days
Join us this is our only Gala for 2026!
5TH SCRAMBLE FOR SYNGAP, SC – 183 days
Classic case of a small event becoming an institution!
PUBMED
Pubmed 2026 is at 22. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date
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Episode 203 of #Syngap10 #CureSYNGAP1 #Podcast