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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. [email protected] 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

Monday, September 21, 2026 — Week 39 CAMP4 ASCEND TRIAL — WEBINAR #131 CAMP4’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 DAYS 5th 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/GcD58deUPtU Event: https://cureSYNGAP1.org/Scramble WARRIORS — KEEP TELLING THE STORIES NEW: Weston, 22 — diagnosed only 6 months ago. Late diagnosis! https://cureSYNGAP1.org/Warrior Will was Warrior #21 at age 9. He’s now 16. https://cureSYNGAP1.org/Will Kiera — Warrior #172 — now 6. https://cureSYNGAP1.org/Kiera These stories matter. Keep sharing them. COMBINEDBrain BIOBANK — ONLY 2 LOCATIONS LEFT Boston — Oct. 8–9. Denver — Dec. 3–4 at the CURE SYNGAP1 Conference. Email [email protected]. HEOR — DOCUMENTING THE REAL BURDEN Building 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 — PRESS We have a backlog of CURE SYNGAP1 press releases. Know PR / communications? We need help. Volunteer skills matter just as much as fundraising. IONIS — ANGELMAN Ionis 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.pdf ULTRAGENYX — CONGRATULATIONS FDA 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-ever UPCOMING SHOOT FOR SYNGAP1 — Nov. 14, Hurricane, UT https://cureSYNGAP1.org/Shoot FIGHT FOR FELIPE — Nov. 28, Boston https://cureSYNGAP1.org/Fight CURE SYNGAP1 CONFERENCE — Dec. 3–4, Denver https://cureSYNGAP1.org/Reg26 PUBMED 50 SYNGAP1 publications in 2026 — +11 vs. Week 39. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date USA: Use your ICD-10, F78.A1 SOCIAL MATTERS 5,268 LinkedIn — +28 since E219. https://www.linkedin.com/company/curesyngap1 1.62k YouTube. https://www.youtube.com/@CureSYNGAP1 Like and subscribe wherever you listen. https://cureSYNGAP1.org/podcasts/syngap10 Episode 220 of #Syngap10 #RareDisease #CureSYNGAP1 #PatientAdvocacy

Friday, September 11, 2026 — Week 37 CAMP4 — ASCEND EXPANDS TO THE UK UK 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-phase CAMP4 ANALYST DAY — SEPT. 28 12–1:30 PM ET. Trial design + unmet need + early pipeline. CURE SYNGAP1 participating https://investors.camp4tx.com/news-events/events We will have a day after, webinar, stay tuned for details. USA TODAY — SYNGAP1 IN PRINT SYNGAP1 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 HEALTH Global 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.html SIX THINGS U.S. FAMILIES CAN DO Our Take Action page is LIVE. Don't just read it. Keep coming back until you've done all six. https://curesyngap1.org/TakeAction IEP HELP — CITIZEN HEALTH Oct. 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 WANTED 2-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 HITS NEW WARRIOR: Felipe, age 3. Parents Brian + Alana organizing Fight for Felipe. Want to fundraise? New support form: https://cureSYNGAP1.org/Fundraise Café SYNGAP1 #40 + #41: GRIN2A + GRIN2B communities. https://cureSYNGAP1.org/Cafe Night of Impact recap live. Time to start planning the next one. https://cureSYNGAP1.org/SF26Recap UPCOMING EVENTS — COUNTDOWN SHOOT FOR SYNGAP1 — 64 DAYS November 14 — Hurricane, Utah Aiming for a Cure — Shooting for Hope https://cureSYNGAP1.org/Shoot FIGHT FOR FELIPE — 78 DAYS November 28 — Boston, Massachusetts https://cureSYNGAP1.org/Fight CURE SYNGAP1 CONFERENCE — 83 DAYS December 3–4 — Denver, Colorado https://cureSYNGAP1.org/Reg26 USA 🇺🇲: Use your ICD-10, F78.A1 SOCIAL MATTERS 5,240 LinkedIn — https://www.linkedin.com/company/curesyngap1 1.62k YouTube https://www.youtube.com/@CureSYNGAP1 43.7k Instagram https://www.instagram.com/curesyngap1 Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 219 of #Syngap10 #SYNGAP1 #RareDisease #CureSYNGAP1 #PatientAdvocacy

Tuesday, September 8, 2026 — Week 37 DON’T MISS ASO UPDATE Episode 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 PRESS USA 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 UPDATE SYNCHRONY — PALO ALTO KAH + 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 — ATHENS Virginie + Jaime + Vicky + Katrine representing SYNGAP1 at the 16th European Epilepsy Congress, Sept. 5–9. https://www.ilae.org/eec2026 Virginie’s Post: https://www.linkedin.com/posts/virginie-mcnamar_eec2026-ugcPost-7502600886368559105-LPbu/ THINGS YOU CAN DO RIGHT NOW GENEDX SURVEY How has getting a SYNGAP1 diagnosis improved your child's care? 5 minutes. Worth it. Please do it. https://curesyngap1.org/GDXsurvey ARI / CITIZEN HEALTH Sign up. Longitudinal medical records → research-ready data. This is clearly the future. https://citizen.health/ari/syngap1 SYNGO SYNGAP1 resource for families from LATAM, ask it to speak English! https://curesyngap1.org/syngo COMMUNITY GROWTH AND SUCCESS CURE 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/en SCRAMBLE FOR SYNGAP — SOLD OUT Congratulations 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-out?e=b5a3afc6ba   UPCOMING EVENTS — COUNTDOWN SHOOT FOR SYNGAP1 — 67 DAYS November 14 — Hurricane, Utah Aiming for a Cure — Shooting for Hope https://cureSYNGAP1.org/Shoot FIGHT FOR FELIPE — 81 DAYS November 28 — Boston, Massachusetts https://cureSYNGAP1.org/Fight CURE SYNGAP1 CONFERENCE — 86 DAYS December 3–4 — Denver, Colorado https://cureSYNGAP1.org/Reg26 PUBMED 50 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=date USA 🇺🇲: Use your ICD-10, F78.A1 SOCIAL MATTERS 5,220 LinkedIn — https://www.linkedin.com/company/curesyngap1 1.61k YouTube https://www.youtube.com/@CureSYNGAP1 11.1k X https://x.com/cureSYNGAP1 43.7k Instagram https://www.instagram.com/curesyngap1 Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 218 of #Syngap10 #SYNGAP1 #ASO #AngelmanSyndrome #AlexanderDisease #RareDisease #CureSYNGAP1 #PatientAdvocacy

Sunday, September 6, 2026 — Week 36 🛑 If you're reading this on social media, these show notes are going to get cut off. Please go to the podcast homepage and click on episode 217 to get the full show notes. https://curesyngap1.org/podcasts/syngap10 ALEXANDER DISEASE On September 3, the FDA approved ZANVASTRO — zilganersen — from Ionis (IONS)  for Alexander disease. It is the first FDA-approved treatment for Alexander disease and the first therapy to directly target the underlying protein buildup driving the disease. Alexander disease is caused by mutations in GFAP. Zilganersen reduces production of abnormal GFAP protein. https://www.fda.gov/news-events/press-announcements/fda-approves-first-drug-treat-alexander-disease ANGELMAN — ULTRAGENYX ASPIRE FAILS On September 2, Ultragenyx (RARE) announced results from its Phase 3 Aspire trial of apazunersen, formerly GTX-102, for Angelman syndrome. The trial failed its primary endpoint — change from baseline in Bayley-4 cognitive raw score. It also failed its key secondary endpoint — the Multidomain Responder Index, or MDRI. And there were no differences between the treated and control groups supporting efficacy in Bayley cognition, the MDRI, or any of the five individual domains that make up the MDRI. https://ir.ultragenyx.com/news-releases/news-release-details/ultragenyx-announces-phase-3-aspire-results-angelman-syndrome WHAT HAPPENED? Financial analyst take on the failure was brutal: “A complete double miss, with no data to argue about.” But this does not conclude that the underlying Angelman ASO strategy has been disproven. Broader read-through: “We think the mechanism still works, and the constraint was dose.” GTX-102 had a history of transient lower-extremity weakness. OAK HILL BIO (RACC) BASICALLY CALLED IT (Good to have multiple shots on goal.) Look at slides 10 and 11 of Oak Hill Bio's July investor presentation filed with the SEC. Oak Hill had already been making the case that the Angelman ASOs are not interchangeable. On slide 10, Oak Hill presents primate data showing nearly full restoration of paternal UBE3A production after a single dose of rugonersen, versus a much more modest reported effect from GTX-102. Importantly, Oak Hill itself notes that this was not a head-to-head study. Then look at slide 11. Oak Hill presents data claiming rugonersen is 20–100 times more potent at inducing UBE3A protein than the other Phase 3 Angelman ASOs. And its description of the Ultragenyx molecule is remarkably direct: “GTX-102 was dose limited.” These are Oak Hill's claims and company-presented preclinical data — but they made this argument before Aspire failed. https://www.sec.gov/Archives/edgar/data/2118032/000119312526316954/d101725dex992.htm THIS IS WHY PHASE 3 MATTERS Ultragenyx had encouraging earlier-stage data. Families appeared to be seeing improvements. Investigators saw improvements. The company saw improvements. Then came a randomized, sham-controlled Phase 3 trial. And it did not confirm efficacy. That is an important lesson for all of us in rare disease drug development: Phase 1/2 data are not Phase 3 data. THE NEW YORK TIMES — GETTING TO A CLINICAL TRIAL IS HARD There was also a New York Times piece this week that I think everyone following drug development should read. How extraordinarily difficult it has become to actually run clinical trials and get experimental medicines into patients. That means companies are looking outside the United States for places where trials can move more efficiently. CAMP4 has regulatory clearance to begin its first-in-human SYNGAP1 trial in Australia and Argentina. That's not an accident. The geography of clinical drug development is changing. The New York Times article is largely looking at this through the lens of cancer drug development today — but rare genetic disease is confronting the same challenges. Cancer today → rare genetic disease tomorrow. — read this article. NEW YORK TIMES — GIFT LINK: https://www.nytimes.com/2026/09/04/opinion/clinical-trials-drugs-science.html?unlocked_article_code=1.-lA.gxCw.n2L6DEBVdtFd&smid=nytcore-ios-share ANGELMAN COMMUNITY IS A MODEL One more thing. A failed Phase 3 trial is devastating for a patient community. AB https://www.linkedin.com/feed/update/urn:li:share:7501449189785022464/ TJB https://www.linkedin.com/feed/update/urn:li:activity:7501404380412145665/ UPCOMING EVENTS — COUNTDOWN SCRAMBLE FOR SYNGAP — 27 DAYS October 3 — Greer, South Carolina 5th Annual Scramble for Syngap https://cureSYNGAP1.org/Scramble SHOOT FOR SYNGAP1 — 69 DAYS November 14 — Hurricane, Utah Aiming for a Cure — Shooting for Hope https://cureSYNGAP1.org/Shoot FIGHT FOR FELIPE — 83 DAYS November 28 — Boston, Massachusetts https://cureSYNGAP1.org/Fight CURE SYNGAP1 CONFERENCE — 86 DAYS December 3–4 — Denver, Colorado https://cureSYNGAP1.org/Reg26 PUBMED 50 SYNGAP1 publications in 2026. +14 vs. Week 36. The newest publication comes from a team in India. 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=date USA 🇺🇲: Use your ICD-10, F78.A1 SOCIAL MATTERS 5,219 LinkedIn — +24 since Episode 216. https://www.linkedin.com/company/curesyngap1 1.61k YouTube https://www.youtube.com/@CureSYNGAP1 11.1k X https://x.com/cureSYNGAP1 43.7k Instagram https://www.instagram.com/curesyngap1 Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 217 of #Syngap10 #SYNGAP1 #ASO #AngelmanSyndrome #AlexanderDisease #RareDisease #CureSYNGAP1 #PatientAdvocacy

Sunday, August 30, 2026 — Week 36 TRIALS & DATA — CAMP4, RARE-X + ProMMiS CAMP4 / CMP-002 Australia and Argentina cleared. EU and UK filings underway. First-in-human Phase 1/2 study still targeted for Q4 2026. CMP-002 is designed to increase expression of the healthy SYNGAP1 copy. CAMP4 raised another $50M and reports cash runway through the end of 2028. Q2 earnings / corporate update: https://investors.camp4tx.com/news-releases/news-release-details/camp4-reports-second-quarter-2026-financial-results-and Rare-X + ProMMiS Rare-X is our PRO partner for the ProMMiS Natural History Study. IMPORTANT: Families participating in ProMMiS need to complete their Rare-X surveys within SEVEN DAYS of their ProMMiS Natural History Study visit date. We need the patient/caregiver-reported data to line up with the clinical visit data. ProMMiS: https://curesyngap1.org/resources/studies/syngap1-prommis/ Rare-X: https://cureSYNGAP1.org/RAREX  ARI WEBINAR If you missed the Ari webinar, the recording is now available. https://cureSYNGAP1.org/AriWeb  FUNDRAISE WITH US Please call us to set up your fundraisers.  Please do not use Facebook fundraising unless it's an emergency. CURE SYNGAP1 ON THE ROAD — BRAIN FOUNDATION Kathryn and I are attending the BRAIN Foundation’s Synchrony 2026 scientific summit in Palo Alto. A chance for CURE SYNGAP1 to stay close to work happening across autism, neurology, genetics, biomarkers and therapeutics. https://brainfoundation.org/synchrony-symposia/ ILAE — EUROPEAN EPILEPSY CONGRESS Virginie is heading to Athens for the 16th European Epilepsy Congress, September 5–9. If you are going to be at the ILAE meeting in Athens, Greece, reach out to Virginie and connect with CURE SYNGAP1 in person. https://www.ilae.org/eec2026 UPCOMING EVENTS — COUNTDOWN SCRAMBLE FOR SYNGAP — 34 DAYS October 3 — Greer, South Carolina 5th Annual Scramble for Syngap https://cureSYNGAP1.org/Scramble SHOOT FOR SYNGAP1 — 76 DAYS November 14 — Hurricane, Utah Aiming for a Cure — Shooting for Hope https://cureSYNGAP1.org/Shoot FIGHT FOR FELIPE — 90 DAYS November 28 — Boston, Massachusetts https://cureSYNGAP1.org/Fight CURE SYNGAP1 CONFERENCE — 95 DAYS December 3–4 — Denver, Colorado Early bird pricing ends August 31! https://cureSYNGAP1.org/Reg26 PUBMED PubMed 2026 is at 49. +2 since Episode 214. +13 vs. the week. Last year finished at 61, +9 vs. the year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date Coolest new paper: TBE on EEG.  https://pubmed.ncbi.nlm.nih.gov/42620081/  USA 🇺🇲: Use your ICD-10, F78.A1 SOCIAL MATTERS 5,195 LinkedIn. +36 since Episode 214. https://www.linkedin.com/company/curesyngap1 1.61k YouTube. https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 43.7k Insta https://www.instagram.com/curesyngap1 Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 216 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

Tony with us for a week after five months away… Way less screen addicted More independent Chubby - Less exercise, worse food Depressed Adam’s Camp was great as usual The support model was striking: the camper-to-therapist ratio was close to one-to-one, with skilled professionals in speech, occupational, physical, and behavioral therapy. SYNGAP1 Connection at Camp! This was Tony’s fifth consecutive year at https://adamscamp.org/. That continuity made a difference. The Adam’s Camp team knew Tony well, and he was a known quantity to them. The team did a fabulous job. Even though Tony can be challenging at this age, and is bigger and sometimes aggressive, everything went smoothly at camp. More time in Denver. We visited Dr. Abbott at CHOC. For families looking for pediatric dental support in Denver, see Dr. Z at https://www.lakesidekidsdentistry.com/. Who will also start seeing kids at https://www.childrenscolorado.org/doctors-and-departments/departments/dental/  The hard parts There were still a couple of moments of aggression within our family. I do not want to pretend those moments disappeared; there is more work to do. The harder news came after Tony returned to school. His unhappiness about being there has increased after being with family, and it feels as though aggression may be moving in the wrong direction again. We are told this kind of transition is common for kids at his school, but that does not make the incident reports any less heartbreaking. Bringing him back was heartbreaking. Lorazepam.  Open Questions What stayed with me is how well Tony did with people who knew him and a deeply skilled team supporting him. At his residential program, he also receives remarkable support. But at the end of the school year, he is expected to come home, and we are expected to recreate enough of that support with ABA and whatever additional help we can find. I do not have a neat conclusion. I am trying to understand what is best for Tony, what is best for John, and what is best for our whole family. I am sharing these questions because I suspect many families carry versions of them too. Related episodes & resources For the earlier Adam’s Camp conversation, watch #S10e110  https://www.youtube.com/watch?v=WBBEZPLRaBQ For the residential-care update, watch #S10e208  https://www.youtube.com/watch?v=ywDUuuGA8GA For a fuller personal conversation about this chapter in Tony’s life, listen to https://curesyngap1.org/podcasts/syngap1-stories/mike-graglia-may-2026-update Learn more about https://lakemary.org/. Both the Adam’s Camp team and Dr. Z from Lakeside will have a booth at the CURE SYNGAP1 Conference in Denver on December 3–4. Stop by to learn more and meet the team. https://curesyngap1.org/calendar/cure-syngap1-conference-2026-denver/ Like and subscribe to the CURE SYNGAP1 Podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Saturday, August 29, 2026 — Week 35 Episode 215 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy #Caregiving #DisabilitySupport #FamilyCaregiver #CaregiverSupport

Monday, August 10, 2026 - Week 33   Make sure to watch #S10e213 first! https://www.linkedin.com/posts/curesyngap1_camp4-trial-approved-in-australia-argentina-activity-7491598254027984896-wWTg 145 done!  Out of 516 in US per last census: (https://www.linkedin.com/posts/curesyngap1_syngap1census-syngap1-census-activity-7478070129340215296-6Hjx)   CLINICAL TRIAL READINESS SURVEY - http://curesyngap1.org/CTRpoll Do it now, let us figure out the state of our community.   CITIZEN Sign up now! https://www.citizen.health/ai-advocate/syngap1 Everyone with a sick kid needs this.   Different from CONNECT: https://curesyngap1.org/curesyngap1connect Make sure we know how to reach you. STUDIES ARE HAPPENING - Albus, thank you to those families. Plug it in. - Combi[o]mics - Thank you for doing this if invited. - Everyone will get an invite to do an ORCA Validation Study, please do this.  If you don’t get that email by end of August, bug us.  We are only inviting those we can confirm have a mutation.   PERSONAL FUNDRAISERS Fundraisers advance our mission & help you connect to community #ForAda curesyngap1.org/forada is over $104k of $10k #4Ford curesyngap1.org/4ford is over $20k of $20k   SIBLINGS - Go Porter! cureSYNGAP1.org/Sibling    THINGS TO LOOK FORWARD TO… 5TH SCRAMBLE FOR SYNGAP, SC – 54 days till October 3rd Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26   SHOOT FOR SYNGAP, UT – 96 days till November 14th curesyngap1.org/calendar/shoot-for-syngap1   FIGHT FOR FELIPE, MA - 111 days till November 29th curesyngap1.org/Fight26   CURE SYNGAP1 CONFERENCE - 115 days until December 3rd & 4th cureSYNGAP1.org/Reg26 rooms available: ‭cureSYNGAP1.org/denhyatt for $159.  In on Wed, out on Saturday.   PUBMED Pubmed 2026 is at 47. +14 vs the week. (61 last year was +9) We are already at the 3rd highest year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date   USA 🇺🇲: Use your ICD-10, F78.A1   SOCIAL MATTERS 5,159 LinkedIn.  https://www.linkedin.com/company/curesyngap1 1.6k YouTube.  https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 43.7k Insta https://www.instagram.com/curesyngap1   Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 214 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

Friday, August 7, 2026 - Week 32   CAMP4 - Gaining momentum - Approval for trials in Australia & +$50M of cash from investors:https://investors.camp4tx.com/news-releases/news-release-details/camp4-therapeutics-secures-australian-regulatory-clearance - Profile on CNBC Cures: https://www.cnbc.com/2026/08/06/camp4-advances-rare-disease-treatment-for-syngap1-into-human-trials.html Where they mentioned approval in Argentina!   $CAMP closed at $4.53 yesterday. https://www.google.com/finance/beta/quote/CAMP:NASDAQ   MAKE SURE YOU ARE REGISTERED WITH CONNECT https://curesyngap1.org/curesyngap1connect/   USA 🇺🇲: Use your ICD-10, F78.A1   CITIZEN Sign up now! https://www.citizen.health/ai-advocate/syngap1   SOCIAL MATTERS 5,156 LinkedIn.  https://www.linkedin.com/company/curesyngap1 1.6k YouTube.  https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 43.7k Insta https://www.instagram.com/curesyngap1   Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 213 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

#Future4Ford. 2Q26 #SYNGAP1Census = 1,806 Patients (+45) $CAMP #ValproateDemandBetter #S10e212 Saturday, July 4, 2026 - Week 27   #Future4Ford! Already at $3,500+!  Share.  Thank you to the Family. This is the model for newly diagnosed, call us, set up a page, help us help your loved one. cureSYNGAP1.org/4Ford    CENSUS - 1,806 https://curesyngap1.org/blog/syngap1-census-2026-update-45-q2-total-1806/ Per https://docs.google.com/spreadsheets/d/1oJwMysR2wyTxe91zLlKJglNa0NySPxkBF0PRiV6mBmM/edit?usp=sharing, no change in Germany, UK, or Netherlands.  This is clearly wrong.   MERCH - 9 days left! New t-shirts!  Buy for everyone! There are some funny ones this year and the classics. cureSYNGAP1.org/Bonfire   CAMP4 has been busy! Meeting with one of our families: https://www.linkedin.com/posts/syngap1-share-7473374060614201345-SeKO/ Shoutout on NASDAQ: https://www.linkedin.com/posts/camp4-therapeutics_syngap1awareness-regrna-syngap1-activity-7474823632972820480-UMqi  $CAMP closed at $4.43 yesterday. https://www.google.com/finance/beta/quote/CAMP:NASDAQ   BONES – This is not medical advice, I am not a doctor.  Talk to a doctor AND know your facts. https://curesyngap1.org/blog/navigating-a-lifetime-of-diagnoses-michaels-syngap1-journey-and-the-effects-of-anti-seizure-medications-on-bone-density/   Valproate is the active Ion, it comes from Valproic Acid (Depakene), Sodium Valproate or  Divalproex Sodium (Depakote).  They all cause bone loss by stoping stomach from absorbing, then robbing bones, then flushing out.  More and longer is worse.  Vitamin D and Calcium can help but they need to start early and it’s better to just find another drug.  Also insurance likes it because it’s cheap and old – demand better.   “Valproic acid and clobazam were commonly used for epilepsy treatment, while risperidone, aripiprazole, and guanfacine were commonly used for behavior management. Valproate and lamotrigine were more effective at reducing seizure frequencies or maintaining seizure freedom than other anti-seizure medications.”  Clinical signatures of SYNGAP1-related disorders through data integration https://pmc.ncbi.nlm.nih.gov/articles/PMC12419475/   THINGS TO LOOK FORWARD TO… 5TH SCRAMBLE FOR SYNGAP, SC – 91 days till October 3rd Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26   SHOOT FOR SYNGAP, UT – 133 days till November 14th curesyngap1.org/calendar/shoot-for-syngap1/    FIGHT FOR FELIPE, MA - 148 days till November 29th curesyngap1.org/Fight26    CURE SYNGAP1 CONFERENCE - 152 days until December 3rd & 4th cureSYNGAP1.org/Denver rooms available: ‭cureSYNGAP1.org/denhyatt for $159.  In on Wed, out on Saturday.   PUBMED Pubmed 2026 is at 40. +13 vs the week. (61 last year was +9) We are already at the 4th highest year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date   Thanks to Dr. Stephen Smith for this exciting paper, especially in the context of ASOs… Genetic rescue of disrupted synaptic protein interaction network dynamics following SYNGAP1 reactivation https://pubmed.ncbi.nlm.nih.gov/42362191/     USA 🇺🇲: Use your ICD-10, F78.A1   SOCIAL MATTERS 5,106 LinkedIn.  https://www.linkedin.com/company/curesyngap1 1.59k YouTube.  https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 43.7k Insta https://www.instagram.com/curesyngap1   Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 212 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

Friday, June 26, 2026 - Week 26   BIO was good.  Need a mouse lab to test molecules all year long.   https://www.linkedin.com/posts/graglia_syngap-syngap1-mousemodels-ugcPost-7476041484408901633-Zldd/    MDBR was big, not just Justin A.!  Thank you Dr. McKee, Heather and others. cureSYNGAP1.org/MDBR26Recap    MERCH - 19 days left! New t-shirts!  Buy for everyone! There are some funny ones this year and the classics. cureSYNGAP1.org/Bonfire   GENETIC TESTING Valuable resource as you have questions. curesyngap1.org/GT     WARRIORS - Phoenix and Kenna cureSYNGAP1.org/Warrior    THINGS TO LOOK FORWARD TO…   WEBINAR: Understanding ASOs & Informed Consent June 30 4:30 ET curesyngap1.org/calendar/understanding-asos-informed-consent/    5TH SCRAMBLE FOR SYNGAP, SC – 99 days till October 3rd Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26   SHOOT FOR SYNGAP, UT – 141 days till November 14th fb.watch/HRnwf9FnEB/   FIGHT FOR FELIPE, MA - 155 days till November 29th curesyngap1.org/Fight26    CURE SYNGAP1 CONFERENCE - 159 days until December 3rd & 4th cureSYNGAP1.org/Denver rooms available: ‭cureSYNGAP1.org/denhyatt for $159.  In on Wed, out on Saturday.   PUBMED Pubmed 2026 is at 38. +12 vs the week. (61 last year was +9) We are already at the 4th highest year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date   Props to Dr. Frazier for yet another paper on SYNGAP1 based on his study, one of the best grants ever. https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70337   USA 🇺🇲: Use your ICD-10, F78.A1   SOCIAL MATTERS 5,074 LinkedIn.  https://www.linkedin.com/company/curesyngap1 1.59k YouTube.  https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 43.8k Insta https://www.instagram.com/curesyngap1   $CAMP closed at $3.92 yesterday. https://www.google.com/finance/beta/quote/CAMP:NASDAQ   Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 211 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

Friday, June 19, 2026 - Week 25   June 21 is SYNGAP1 Awareness Day, but we have made it SYNGAP1 Awareness month!  Why 6/21? Because 6p21.32  Donate!  cureSYNGAP1.org/Donate    #ThisIsOursToLose & #BurdenHopeProgress watch #S10e208 https://curesyngap1.org/podcasts/syngap10/tony-update-thisisourstolose-more-great-results-from-camp4-nightofimpact-in-9-days-s10e208/    New family email, very good, lots of questions.  It’s all here.  Reach out, we are here for you and you are welcome in this community – you are part of it whether you like it or not. Raise money.  Join our host committee for 2nd SF event next year. Believe that we are doing the best we possibly can, and you would be adrift without a PAG.  If you think this is painful, imagine if we weren't here! Register for the Conference.  Book tickets to DEN now.  cureSYNGAP1.org/Denver Join us -- make this org better for all of us and all our kids for all their lives.   Complex work doesn't fit neatly in 10 minutes anymore... Health Economics and Market Access work is going well, we will put out an RFP shortly.   NATURAL HISTORY Goes On!  Make sure you are in it. https://curesyngap1.org/resources/studies/syngap1-prommis/ Orlando/McKee Grant "Validating Remote Developmental Assessments in SYNGAP1-Related Disorders" cureSYNGAP1.org/PR49     🤖 ARI Sign up now, s/he keeps getting better, and then connect to Citizen Health, if you are not on Citizen Health, fix that. https://www.citizen.health/ai-advocate/syngap1 https://ari.citizenhealth.com/   KUDOS - The fifth MDBR, Justin Albrecht rode 70 remote in NC.  Raised $2k. - Rachel Jasiczek (Yah-she-check) was a guest on Remarkable Futures Podcast - https://open.spotify.com/episode/7dYmHcXEu58H4C8VCoZ9V1?si=x3xvui86TY2cyGHyS3mGDQ  - Collective: CURE SYNGAP1 Collective - cureSYNGAP1.org/PR48  Collective page - cureSYNGAP1.org/Collective    More fundraisers!  WARD - Shoot for SYNGAP on November 14th in Utah! https://fb.watch/HRnwf9FnEB/  Another in Boston in the works… WEBINAR: Understanding ASOs & Informed Consent June 30 4:30 ET https://curesyngap1.org/calendar/understanding-asos-informed-consent/   5TH SCRAMBLE FOR SYNGAP, SC – 106 days till October 3rd Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26   CURE SYNGAP1 CONFERENCE - 166 days until December 3rd cureSYNGAP1.org/Denver rooms available: ‭cureSYNGAP1.org/denhyatt for $159.  In on Wed, out on Saturday.   USA: use your ICD-10, F78.A1: https://onlinelibrary.wiley.com/doi/10.1002/epi.70142   PUBMED Pubmed 2026 is at 37. +12 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date   SOCIAL MATTERS 5,058 LinkedIn.  https://www.linkedin.com/company/curesyngap1 1.58k YouTube.  https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1   $CAMP closed at $4.13 yesterday. https://www.google.com/finance/beta/quote/CAMP:NASDAQ   Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 210 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

Wednesday, June 10, 2026 - Week 24   #NightOfImpact was 15 Days ago! Photos: https://jeaniehorton.pixieset.com/curesyngap1nightofimpact2026/ Impact: $800k+, of which $300 was our match.  Industry: Multiple Academics & Clinicians: Stanford, Berkeley & UCSF.  Cross-pollination is always good. Speakers: Ash, John, Kathryn, Helen Willsey & Me.  Only got a video of John, which was a mistake. If you took one, please share.  Here is John: https://www.linkedin.com/posts/graglia_still-reflecting-on-our-inaugural-cure-syngap1-ugcPost-7467439971294048256-cUf9/    Dr. Willsey Rocks. Willsey Press Release https://www.eurekalert.org/news-releases/1130924 (both were at NoI). A few other points on HRW, as we call her.  Simons: https://curesyngap1.org/blog/future-research-for-syngap1-how-helen-willsey-broke-new-ground-frogs-in-hand/ Willsey in Neuron 2021: https://www.cell.com/neuron/pdf/S0896-6273(21)00002-7.pdf (Frogs) Birtele in Nature Neuroscience 2023: https://www.nature.com/articles/s41593-023-01477-3 (Confirms) McCluskey in Nature Communications 2025: https://www.nature.com/articles/s41467-025-57342-3 (GI) Kostyanovskaya in BioRxiv 2025: https://pubmed.ncbi.nlm.nih.gov/39677731 (cilium)   5TH SCRAMBLE FOR SYNGAP, SC – 114 days Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26   CURE SYNGAP1 CONFERENCE - 175 days cureSYNGAP1.org/Pre    USA: use your ICD-10, F78.A1: https://onlinelibrary.wiley.com/doi/10.1002/epi.70142   PUBMED Pubmed 2026 is at 35. +11 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date   SOCIAL MATTERS 5,045 LinkedIn.  https://www.linkedin.com/company/curesyngap1 1.58k YouTube.  https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1   $CAMP closed at $4.34 today. https://www.google.com/finance/beta/quote/CAMP:NASDAQ   Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 209 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy