CURE SYNGAP1 Podcast

Friday, October 2, 2026 — Week 40CENSUS — 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/CensusCOMBINEDBRAIN — 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-jDkICURE 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/Reg26UNLOCK 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-impactCOMMUNITY 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/AriWARRIORS — 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-wNEWSLETTER #52• All the latest news and links in one place: https://cureSYNGAP1.org/NL52• Subscribe: https://cureSYNGAP1.org/NewsletterPUBMED + SCIENCE• PubMed 2026: 54. +14 vs Week 40. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=dateUSA - Use your ICD-10: F78.A1SOCIAL MATTERS5,301 LinkedIn. https://www.linkedin.com/company/cureSYNGAP11.63k YouTube. https://www.youtube.com/@CureSYNGAP111.0k X. https://twitter.com/cureSYNGAP143.4k Instagram. https://www.instagram.com/cureSYNGAP1Like + subscribe wherever you listen. https://cureSYNGAP1.org/podcasts/syngap10Episode 222 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

Saturday, September 26, 2026 — Week 39CAMP4 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/AscendCTARGENTINA — 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/UuhOIzSEKH4SYNGAP1 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-xtZSWARRIORS- Wednesday Warrior #237: Matteo in NYC — happy 1st birthday! https://cureSYNGAP1.org/WarriorTAKE 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/auburn26CURE 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/Reg26PUBMED + 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.2026.100162USA: Use ICD-10 code F78.A1.SOCIAL MATTERS5,288 LinkedIn. https://www.linkedin.com/company/cureSYNGAP1/1.62K YouTube. https://www.youtube.com/@CureSYNGAP111.1K X. https://twitter.com/cureSYNGAP143.7K Instagram. https://www.instagram.com/cureSYNGAP1/Like + subscribe wherever you listen. https://cureSYNGAP1.org/podcasts/syngap10/Episode 221 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

Monday, September 21, 2026 — Week 39CAMP4 ASCEND TRIAL — WEBINAR #131CAMP4’s SYNGAP1 ASCEND Phase 1/2 Trial — What You Need To Know.Tuesday, Sept. 29 — 12 PM ET / 9 AM PT.REGISTER https://curesyngap1.org/calendar/webinar-131-camp4-syngap1-ascend-phase-1-2-trial/SCRAMBLE FOR SYNGAP — 12 DAYS5th Annual — Oct. 3, Greer, SC.Julie + family back on WSPA 7 News — including some very real family moments.SOLD OUT. Five years of building awareness + community. https://youtu.be/GcD58deUPtUEvent: https://cureSYNGAP1.org/ScrambleWARRIORS — KEEP TELLING THE STORIESNEW: Weston, 22 — diagnosed only 6 months ago. Late diagnosis! https://cureSYNGAP1.org/WarriorWill was Warrior #21 at age 9. He’s now 16. https://cureSYNGAP1.org/WillKiera — Warrior #172 — now 6. https://cureSYNGAP1.org/KieraThese stories matter. Keep sharing them.COMBINEDBrain BIOBANK — ONLY 2 LOCATIONS LEFTBoston — Oct. 8–9.Denver — Dec. 3–4 at the CURE SYNGAP1 Conference.Email [email protected] — DOCUMENTING THE REAL BURDENBuilding our Health Economics & Outcomes Research work with payers & clinicians in mind.Anxiety + behavior management matter. e.g. Rett: 323 caregivers — https://pubmed.ncbi.nlm.nih.gov/42570201/e.g. Angelman: U.S. study of 105 caregivers estimated average annual caregiving economic impact at $79,837 — 53% from employment impacts/lost productivity. https://pubmed.ncbi.nlm.nih.gov/39985061/HELP WANTED — PRESSWe have a backlog of CURE SYNGAP1 press releases.Know PR / communications? We need help.Volunteer skills matter just as much as fundraising.IONIS — ANGELMANIonis published a community letter after the GTX-102/ASPIRE results.Relevant follow-up to my discussion in E217.Read it directly — 2’MOE https://assets.ctfassets.net/qj7dcdpo5rmb/nBQEr7TJQIyexzQu229Dl/a5ae4fff28861385532da0c8390b1c30/PA-US-AS-260005_-_Community_Statement_on_Status_of_Obudanersen_Program_-_FINAL_-_Sept_2026.pdfULTRAGENYX — CONGRATULATIONSFDA FULL APPROVAL for FAYUVI / UX111 for Sanfilippo syndrome Type A.First-ever FDA-approved treatment for MPS IIIA.Single-dose IV AAV9 gene therapy. Second approved gene therapy for RARE.https://ir.ultragenyx.com/news-releases/news-release-details/ultragenyx-announces-approval-fayuvitm-gene-therapy-first-everUPCOMINGSHOOT FOR SYNGAP1 — Nov. 14, Hurricane, UT https://cureSYNGAP1.org/ShootFIGHT FOR FELIPE — Nov. 28, Boston https://cureSYNGAP1.org/FightCURE SYNGAP1 CONFERENCE — Dec. 3–4, Denver https://cureSYNGAP1.org/Reg26PUBMED50 SYNGAP1 publications in 2026 — +11 vs. Week 39. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=dateUSA: Use your ICD-10, F78.A1SOCIAL MATTERS5,268 LinkedIn — +28 since E219. https://www.linkedin.com/company/curesyngap11.62k YouTube. https://www.youtube.com/@CureSYNGAP1Like and subscribe wherever you listen. https://cureSYNGAP1.org/podcasts/syngap10Episode 220 of #Syngap10 #RareDisease #CureSYNGAP1 #PatientAdvocacy

Friday, September 11, 2026 — Week 37CAMP4 — ASCEND EXPANDS TO THE UKUK MHRA authorizes UK sites in CAMP4's Phase 1/2 CMP-002 trial.UK joins Australia + Argentina. EU filing remains under review.First-in-human trial still targeted to begin Q4 2026.Another major step toward our first disease-modifying clinical trial.https://investors.camp4tx.com/news-releases/news-release-details/camp4-therapeutics-receives-authorization-united-kingdom-phaseCAMP4 ANALYST DAY — SEPT. 2812–1:30 PM ET. Trial design + unmet need + early pipeline.CURE SYNGAP1 participating https://investors.camp4tx.com/news-events/eventsWe will have a day after, webinar, stay tuned for details.USA TODAY — SYNGAP1 IN PRINTSYNGAP1 family story appeared in USA TODAY's national print edition this week.Families need education, care + support TODAY.https://www.usatoday.com/story/life/health-wellness/2026/09/01/kids-special-education-school-shortage-care/90851980007/RARE-X + CITIZEN HEALTHGlobal Genes selects Citizen Health technology to power RARE-X.Important for us: ProMMiS uses Rare-X; CURE SYNGAP1 already works with Citizen.https://www.prnewswire.com/news-releases/global-genes-partners-with-citizen-health-to-power-rare-x-302870871.htmlSIX THINGS U.S. FAMILIES CAN DOOur Take Action page is LIVE.Don't just read it. Keep coming back until you've done all six.https://curesyngap1.org/TakeActionIEP HELP — CITIZEN HEALTHOct. 4: IEP deep dive + Q&A with Staci Zimmerman, M.Ed.Register https://curesyngap1.org/calendar/what-nobody-tells-you-about-ieps-citizen-health-webinar/RESEARCH — HELP WANTED2-year SYNGAP1 postdoc — Sapienza University of Rome.Patient iPSCs, cortical neurons + brain organoids.Deadline Sept. 30. Know someone? Amplify it. https://www.sins.it/job_offer/postdoctoral-position-available-at-sapienza-university-of-rome/ COMMUNITY QUICK HITSNEW WARRIOR: Felipe, age 3. Parents Brian + Alana organizing Fight for Felipe.Want to fundraise? New support form: https://cureSYNGAP1.org/FundraiseCafé SYNGAP1 #40 + #41: GRIN2A + GRIN2B communities. https://cureSYNGAP1.org/CafeNight of Impact recap live. Time to start planning the next one. https://cureSYNGAP1.org/SF26RecapUPCOMING EVENTS — COUNTDOWNSHOOT FOR SYNGAP1 — 64 DAYSNovember 14 — Hurricane, UtahAiming for a Cure — Shooting for Hope https://cureSYNGAP1.org/ShootFIGHT FOR FELIPE — 78 DAYSNovember 28 — Boston, Massachusetts https://cureSYNGAP1.org/FightCURE SYNGAP1 CONFERENCE — 83 DAYSDecember 3–4 — Denver, Colorado https://cureSYNGAP1.org/Reg26USA 🇺🇲: Use your ICD-10, F78.A1SOCIAL MATTERS5,240 LinkedIn — https://www.linkedin.com/company/curesyngap11.62k YouTube https://www.youtube.com/@CureSYNGAP143.7k Instagram https://www.instagram.com/curesyngap1Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10Episode 219 of #Syngap10 #SYNGAP1 #RareDisease #CureSYNGAP1 #PatientAdvocacy

Tuesday, September 8, 2026 — Week 37DON’T MISS ASO UPDATEEpisode 217 came out over the weekend. Don't miss it. There was lots of ASO news in there.https://www.linkedin.com/feed/update/urn:li:activity:7502544874399928322/NATIONAL PRESSUSA TODAY Special-needs care / education crisis — and a SYNGAP1 family featured. Diagnosis and future therapies aren't enough. Families need care, education and support today. https://www.linkedin.com/posts/bernadette-basilico-6924b29a_a-two-year-postdoctoral-position-with-share-7500493855591432192-sOD6/ https://www.usatoday.com/story/life/health-wellness/2026/09/01/kids-special-education-school-shortage-care/90851980007/ADVOCACY UPDATESYNCHRONY — PALO ALTOKAH + I attended the BRAIN Foundation's Synchrony symposium.The autism community is starting to wake up to neuroinflammation, and mental health psychiatrists are really working hard on this topic. There are also people looking more at the impact of diet. https://brainfoundation.org/synchrony-symposia/ILAE #EEC2026 — ATHENSVirginie + Jaime + Vicky + Katrine representing SYNGAP1 at the 16th European Epilepsy Congress, Sept. 5–9. https://www.ilae.org/eec2026Virginie’s Post: https://www.linkedin.com/posts/virginie-mcnamar_eec2026-ugcPost-7502600886368559105-LPbu/THINGS YOU CAN DO RIGHT NOW1. GENEDX SURVEYHow has getting a SYNGAP1 diagnosis improved your child's care?5 minutes. Worth it. Please do it. https://curesyngap1.org/GDXsurvey2. ARI / CITIZEN HEALTHSign up. Longitudinal medical records → research-ready data.This is clearly the future. https://citizen.health/ari/syngap13. SYNGOSYNGAP1 resource for families from LATAM, ask it to speak English! https://curesyngap1.org/syngoCOMMUNITY GROWTH AND SUCCESSCURE SYNGAP1 PORTUGAL  🇵🇹Congratulations to the Portuguese SYNGAP1 community — legal organization established + website live.Special applause for Henrique’s leadership. Another national organization building local advocacy and community. https://curegyngap1-portugal.org/enSCRAMBLE FOR SYNGAP — SOLD OUTCongratulations to the Scramble team — the 5th Annual Scramble for SYNGAP is SOLD OUT.25 days to go. A great example of a community building momentum year after year. https://mailchi.mp/796f3e59d71b/the-scramble-for-syngap-is-sold-outUPCOMING EVENTS — COUNTDOWNSHOOT FOR SYNGAP1 — 67 DAYSNovember 14 — Hurricane, UtahAiming for a Cure — Shooting for Hope https://cureSYNGAP1.org/ShootFIGHT FOR FELIPE — 81 DAYSNovember 28 — Boston, Massachusetts https://cureSYNGAP1.org/FightCURE SYNGAP1 CONFERENCE — 86 DAYSDecember 3–4 — Denver, Colorado https://cureSYNGAP1.org/Reg26PUBMED50 SYNGAP1 publications in 2026. +13 vs. Week 37. https://pubmed.ncbi.nlm.nih.gov/42692765/Last year finished at 61 publications — +9 vs. the year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=dateUSA 🇺🇲: Use your ICD-10, F78.A1SOCIAL MATTERS5,220 LinkedIn — https://www.linkedin.com/company/curesyngap11.61k YouTube https://www.youtube.com/@CureSYNGAP111.1k X https://x.com/cureSYNGAP143.7k Instagram https://www.instagram.com/curesyngap1Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10Episode 218 of #Syngap10 #SYNGAP1 #ASO #AngelmanSyndrome #AlexanderDisease #RareDisease #CureSYNGAP1 #PatientAdvocacy