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

• $200,000 matching gift!
• https://curesyngap1.org/calendar/unlock-their-tomorrow-2026-syngap1

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

• New Spanish-language S10-style podcast hosted by Fernanda + Carlos Caparros of CURE SYNGAP1 LATAM. https://cureSYNGAP1.org/ALDia

SOCIAL MATTERS

5,333 LinkedIn. https://www.linkedin.com/company/cureSYNGAP1

1.63k YouTube. https://www.youtube.com/@CureSYNGAP1

Like + subscribe https://cureSYNGAP1.org/podcasts/syngap10

Episode 223 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

Friday, October 2, 2026 — Week 40

CENSUS — 1,871 AND GROWING

• Q3 census: 1,871 known patients, +65 this quarter.
• First patient in Rwanda. USA +11, China +16, Brazil +6, France +4.
• Finding patients matters more than ever as trials approach. https://cureSYNGAP1.org/Census

COMBINEDBRAIN — RARE RESEARCH ROUNDTABLE

• Wonderful Rare Research Roundtable on Genetic Neurodevelopmental Disorders. COMBINEDBrain is a gift to the rare neuro community — hug them when you see them. https://combinedbrain.org/RR-RGND
• Dr. Emma James of Encoded, chair of our IAB, posted about the meeting. https://www.linkedin.com/posts/emma-james-71759a1a_the-combinedbrain-research-roundtable-on-ugcPost-7511223599165472768-jDkI

CURE SYNGAP1 CONFERENCE — DENVER

• 9 Family Legacy Sponsors, up from 8 in 2025.
• Thursday Rare Reception — free, register: https://cureSYNGAP1.org/RR26
• Friday Family Dinner at Henry’s: https://cureSYNGAP1.org/Henrys
• Conference registration ends OCT. 31. https://cureSYNGAP1.org/Reg26

UNLOCK THEIR TOMORROW

• Q4 goal: $500,000 by Dec. 31, including a $200,000 match.
• Families can start their own fundraiser; anyone can donate. https://cureSYNGAP1.org/Unlock
• Your Idea. Your Fundraiser. Your SYNGAP1 Impact. https://curesyngap1.org/blog/your-idea-your-fundraiser-your-syngap1-impact

COMMUNITY ACTION

• RARE Disease Week 2027, March 2-4, in DC. Travel reimbursement applications are open; deadline Nov. 6. https://bit.ly/4jo7fku
• RARE Foundation travel reimbursement post: https://www.facebook.com/share/p/1EeF8jTWFi • Sign up for ARI: https://cureSYNGAP1.org/Ari

WARRIORS — JACK

• Jack is a 3-year-old from Berkeley who missed early milestones and was diagnosed with SYNGAP1 around age 3 after eyelid-fluttering episodes led to EEG, MRI and genetic testing. https://curesyngap1.org/syngap-warriors/jack-w

NEWSLETTER #52

• All the latest news and links in one place: https://cureSYNGAP1.org/NL52
• Subscribe: https://cureSYNGAP1.org/Newsletter

PUBMED + SCIENCE

• PubMed 2026: 54. +14 vs Week 40. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

USA - Use your ICD-10: F78.A1

SOCIAL MATTERS

5,301 LinkedIn. https://www.linkedin.com/company/cureSYNGAP1

1.63k YouTube. https://www.youtube.com/@CureSYNGAP1

11.0k X. https://twitter.com/cureSYNGAP1

43.4k Instagram. https://www.instagram.com/cureSYNGAP1

Like + subscribe wherever you listen. https://cureSYNGAP1.org/podcasts/syngap10

Episode 222 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

Saturday, September 26, 2026 — Week 39

CAMP4 ASCEND — WEBINAR #131

- SYNGAP1 ASCEND Phase 1/2 Trial: What You Need To Know.

- Monday, Sept. 28 — 12 PM PT / 3 PM ET / 19:00 UTC.

- Families: come hear directly from CAMP4 + ask your questions. https://cureSYNGAP1.org/AscendCT

ARGENTINA — PATH TO THE CLINICAL TRIAL

- CAMP4 + LATAM hybrid meeting: “Path to the Clinical Trial in Argentina.”

- Remember how they got here: THE CONFERENCE. Community → relationships → trial readiness.

- Recording: https://youtu.be/UuhOIzSEKH4

SYNGAP1 LEADERS REPRESENTING OUR COMMUNITY

- Incoming Board Chair Eric Moulton at Newborn Screening Bootcamp in DC. Critical that SYNGAP1 is involved in NBS — find patients sooner. Thank you RARE Foundation. https://www.rareadvocates.org/newborn-screening-bootcamp/

- Vicky Arteaga + Allison Hirsch represented CURE SYNGAP1 at Rare Diseases International at the UN. https://www.linkedin.com/posts/rare-diseases-international_unga81-rarediseases-globalhealth-activity-7508918814357610496-xtZS

WARRIORS

- Wednesday Warrior #237: Matteo in NYC — happy 1st birthday! https://cureSYNGAP1.org/Warrior

TAKE RESPIRATORY SERIOUSLY — JAXON IN ICU

- Aaron Harding documented Jaxon’s ICU experience day-by-day. A difficult family experience worth reading directly. Add serrapeptase to your regime.

- Aaron’s posts: https://www.facebook.com/aaron.j.harding.5

- Willsey paper: https://pmc.ncbi.nlm.nih.gov/articles/PMC11885846/ Another paper is coming soon.

COMMUNITY IN ACTION

- LATAM: One Voice for SYNGAP1 — VOCES! https://cureSYNGAP1.org/Voces

- Auburn Delta Sigma Phi + Wyatt Jones: Delta Sig for SYNGAP1. https://cureSYNGAP1.org/auburn26

CURE SYNGAP1 CONFERENCE — DENVER

- Dec. 3–4. Science Day: 156 registered. Family Day: 137, including 27 kids/Syngapians.

- REGISTRATION ENDS OCT. 31. Hotel rooms going fast — register + book now. https://cureSYNGAP1.org/Reg26

PUBMED + SCIENCE

- PubMed 2026: 54. +15 vs Week 39. Last year finished at 61, +9 vs the year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

- NEW: Pekka Postila team — years of CURE SYNGAP1 support + partnership studying missense mutations.

- Molecular modeling supports canonical RasGAP + Plexin-like RapGAP mechanisms; missense variants can disrupt protein stability AND catalysis; other insights.

- Paper: https://doi.org/10.1016/j.yjsbx.2026.100162

USA: Use ICD-10 code F78.A1.

SOCIAL MATTERS

5,288 LinkedIn. https://www.linkedin.com/company/cureSYNGAP1/

1.62K YouTube. https://www.youtube.com/@CureSYNGAP1

11.1K X. https://twitter.com/cureSYNGAP1

43.7K Instagram. https://www.instagram.com/cureSYNGAP1/

Like + subscribe wherever you listen. https://cureSYNGAP1.org/podcasts/syngap10/

Episode 221 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy