Episode 190

#CureSYNGAP1 Conf: 1 week! #GivingTuesday: 5 days. #ProMMiS. Mvmt & Sleep papers. #S10e189

Nov 27, 2025

9:55

Episode Description

Happy Thanksgiving… Thursday, November 27, 2025. Week 48.

https://curesyngap1.org/clinical-trials/ Emerald from Praxis for Relutrigine and DeeP Ocean from Longboard for Bexicaserin. Check them out, screen for both. See what you can do!

Hectic with #MIHealthSummit, Tony at home, an NHS visit, Ultrabootcamp, not to mention prepping for the most elaborate conference yet!

MI https://www.linkedin.com/posts/raymond-puerini_medtech-patientengagement-mihealthsummit-activity-7392679496266436608-7kWo

Bootcamp https://www.linkedin.com/posts/graglia_rarebootcamp-syngap1-precisionmedicines-activity-7396249525214031872-RvsX

ProMMiS - Meet committed clinicians, get great care and build the future of SYNGAP1 clinical medicine.

Upcoming Stanford enrollment dates: December 10–11, 2025: 2 slots, February 25–26, 2026: 2 slots, May 27–28, 2026: 2 slots to enroll email prommis@curesyngap1.org

GIVING TUESDAY

1 week to go. Set up an Unlock fundraising page now and send it out BEFORE Tuesday December 2nd! cureSyngap1.org/unlock or for more info: https://curesyngap1.org/podcasts/syngap10/time-to-unlock-their-tomorrow-raise-funds-camp4-our-name-s10e188/

Video: https://www.linkedin.com/posts/curesyngap1_curesyngap1-syngap1-activity-7399492685474009088-DXWI

CONFERENCE

- Record Headcount over 20% increase: Scientific: 237 & Caregiver Connect: 180 (of which 26 patients)

- Agendas are up: https://curesyngap1.org/calendar/cure-syngap1-conference-2025-hosted-by-srf/

- Volunteer with us: stacey@cureSYNGAP1.org

PAPERS

PUBMED at 52, and low. Clinical research! 181 / 359 = more than half of the knowledge on S1 in the past 4 year!

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&sort=date

Movement disorder comparison: https://www.medrxiv.org/content/10.1101/2025.11.04.25339413v1.full.pdf

SLEEP - SRD Patients are the worst https://pubmed.ncbi.nlm.nih.gov/41138043/ aligned with CSH paper https://pmc.ncbi.nlm.nih.gov/articles/PMC8472329/