Episode 224

What You Need to Know & When: DAY-C, UNLOCK, Ari, ORCA, HEOR, Denver (11 days to register) #S10E223

Episode Description

Tuesday, October 20, 2026 — Week 43

WHAT YOU CAN DO RIGHT NOW

DAY-C remote developmental study — ages 9–25. Especially important for families who cannot participate in ProMMiS because travel/behavior makes in-person testing hard. ENDD@chop.edu https://curesyngap1.org/blog/validating-remote-developmental-assessments-syngap1-related-disorders-grant-awarded-julie-orlando-center-for-epilepsy-and-neurodevelopmental-disorders-u-penn-jill-mckee-childrens-hospital-philadelphia/
KNOW YOUR MUTATION. Join Citizen, ask Citizen; get Ari, ask Ari. ~70 families already using Ari. https://cureSYNGAP1.org/Ari
COMBIOMICS — if Isaac or Grace from COMBINEDBrain emails you, respond. Very important study.

RAISE FUNDS VIA UNLOCK

COMING SOON — ORCA

ORCA validation recruitment is coming. This is the most important survey to complete in Q4 if you want to help change the future.

TRAVEL

Suzanne, Eric and I are off to BIO this week on Th/F.
Next week Kathryn and I will be at the UK Conference followed by Edinburgh meetings.
Kathryn will travel on to FAST where she and Virginie will partner and learn.

DENVER — REGISTER NOW

Science Day: 204. Family Day: 168, including 32 kids/Syngapians. Registration closes OCT. 31. https://cureSYNGAP1.org/Reg26
Rare Reception: https://cureSYNGAP1.org/RR26
Family Dinner: 41 registered. https://cureSYNGAP1.org/Henrys

AT THE CONFERENCE → EARLY 2027 — HEOR

HEOR kickoff happened. Family focus groups Thursday + Friday at the conference.
Survey comes early 2027. This is patient-led research we need families to complete — data for payers, clinicians, behavior/anxiety burden and future access to treatment.
https://www.eurekalert.org/news-releases/1148569

WHAT WE’VE BEEN UP TO

Milken Institute Patient Advocacy Forum — “If it’s done right, it’s not done alone.”
UT-Arlington — partnership discussions around how SYNGAP1 can be part of ambitious new work.
Phoenix Children’s + COMBINEDBrain — Kathryn: partnership poised to “level up multidisciplinary care and clinical trial capacity.” Families + COMBINEDBrain helping bring patient expertise into trial planning. https://www.linkedin.com/posts/kathryn-syngap-research-fund_a-huge-thank-you-from-all-pediatric-rare-ugcPost-7515853296868229120-d0VM
Theme: strategic collaboration — more institutions, more partners, more people doing the work.

SYNGAP1 AL DÍA