SynGAP10 weekly 10 minute updates on SYNGAP1

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

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/syngap10On 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-diseaseOn 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-syndromeFinancial 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.(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.htmUltragenyx 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 HARDThere 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.....Episode 217 of #Syngap10 #SYNGAP1 #ASO

Sunday, August 30, 2026 — Week 36Australia 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-andRare-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 If you missed the Ari webinar, the recording is now available. https://cureSYNGAP1.org/AriWeb Please call us to set up your fundraisers.  Please do not use Facebook fundraising unless it's an emergency.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/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/eec2026UPCOMING EVENTS — COUNTDOWNSCRAMBLE FOR SYNGAP — 34 DAYSOctober 3 — Greer, South Carolina5th Annual Scramble for Syngaphttps://cureSYNGAP1.org/ScrambleSHOOT FOR SYNGAP1 — 76 DAYSNovember 14 — Hurricane, UtahAiming for a Cure — Shooting for Hopehttps://cureSYNGAP1.org/ShootFIGHT FOR FELIPE — 90 DAYSNovember 28 — Boston, Massachusettshttps://cureSYNGAP1.org/FightCURE SYNGAP1 CONFERENCE — 95 DAYSDecember 3–4 — Denver, ColoradoEarly bird pricing ends August 31!https://cureSYNGAP1.org/Reg26PubMed 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.A15,195 LinkedIn. +36 since Episode 214. https://www.linkedin.com/company/curesyngap11.61k YouTube. https://www.youtube.com/@CureSYNGAP111.1k Twitter https://twitter.com/cureSYNGAP143.7k Insta https://www.instagram.com/curesyngap1Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10Episode 216 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacyTRIALS & DATA — CAMP4, RARE-X + ProMMiSCAMP4 / CMP-002Rare-X + ProMMiSARI WEBINARFUNDRAISE WITH USCURE SYNGAP1 ON THE ROAD — BRAIN FOUNDATIONILAE — EUROPEAN EPILEPSY CONGRESSPUBMEDSOCIAL MATTERS

Tony with us for a week after five months away…Way less screen addictedMore independentChubby - Less exercise, worse foodDepressedAdam’s Camp was great as usualThe 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 partsThere 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 QuestionsWhat 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 & resourcesFor the earlier Adam’s Camp conversation, watch #S10e110  https://www.youtube.com/watch?v=WBBEZPLRaBQFor the residential-care update, watch #S10e208  https://www.youtube.com/watch?v=ywDUuuGA8GAFor a fuller personal conversation about this chapter in Tony’s life, listen to https://curesyngap1.org/podcasts/syngap1-stories/mike-graglia-may-2026-updateLearn 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/syngap10Saturday, August 29, 2026 — Week 35Episode 215 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy#Caregiving #DisabilitySupport #FamilyCaregiver #CaregiverSupport

Monday, August 10, 2026 - Week 33Make sure to watch #S10e213 first! https://www.linkedin.com/posts/curesyngap1_camp4-trial-approved-in-australia-argentina-activity-7491598254027984896-wWTg145 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/CTRpollDo it now, let us figure out the state of our community.CITIZEN Sign up now! https://www.citizen.health/ai-advocate/syngap1Everyone with a sick kid needs this.Different from CONNECT: https://curesyngap1.org/curesyngap1connectMake 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 FUNDRAISERSFundraisers 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 $20kSIBLINGS - Go Porter!cureSYNGAP1.org/Sibling THINGS TO LOOK FORWARD TO…5TH SCRAMBLE FOR SYNGAP, SC – 54 days till October 3rdClassic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26SHOOT FOR SYNGAP, UT – 96 days till November 14thcuresyngap1.org/calendar/shoot-for-syngap1FIGHT FOR FELIPE, MA - 111 days till November 29thcuresyngap1.org/Fight26CURE SYNGAP1 CONFERENCE - 115 days until December 3rd & 4thcureSYNGAP1.org/Reg26 rooms available: ‭cureSYNGAP1.org/denhyatt for $159.  In on Wed, out on Saturday.PUBMEDPubmed 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=dateUSA 🇺🇲: Use your ICD-10, F78.A1SOCIAL MATTERS5,159 LinkedIn.  https://www.linkedin.com/company/curesyngap11.6k YouTube.  https://www.youtube.com/@CureSYNGAP111.1k Twitter https://twitter.com/cureSYNGAP143.7k Insta https://www.instagram.com/curesyngap1Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10Episode 214 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

Friday, August 7, 2026 - Week 32CAMP4 - 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:NASDAQMAKE SURE YOU ARE REGISTERED WITH CONNECThttps://curesyngap1.org/curesyngap1connect/USA 🇺🇲: Use your ICD-10, F78.A1CITIZENSign up now! https://www.citizen.health/ai-advocate/syngap1SOCIAL MATTERS5,156 LinkedIn.  https://www.linkedin.com/company/curesyngap11.6k YouTube.  https://www.youtube.com/@CureSYNGAP111.1k Twitter https://twitter.com/cureSYNGAP143.7k Insta https://www.instagram.com/curesyngap1Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10Episode 213 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

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/BonfireCAMP4 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:NASDAQBONES – 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 3rdClassic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26SHOOT FOR SYNGAP, UT – 133 days till November 14thcuresyngap1.org/calendar/shoot-for-syngap1/ FIGHT FOR FELIPE, MA - 148 days till November 29thcuresyngap1.org/Fight26 CURE SYNGAP1 CONFERENCE - 152 days until December 3rd & 4thcureSYNGAP1.org/Denver rooms available: ‭cureSYNGAP1.org/denhyatt for $159.  In on Wed, out on Saturday.PUBMEDPubmed 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=dateThanks 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.A1SOCIAL MATTERS5,106 LinkedIn.  https://www.linkedin.com/company/curesyngap11.59k YouTube.  https://www.youtube.com/@CureSYNGAP111.1k Twitter https://twitter.com/cureSYNGAP143.7k Insta https://www.instagram.com/curesyngap1Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10Episode 212 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

Friday, June 26, 2026 - Week 26BIO was good.  Need a mouse lab to test molecules all year long.  https://www.linkedin.com/posts/graglia_syngap-syngap1-mousemodels-ugcPost-7476041484408901633-ZlddMDBR was big, not just Justin A.!  Thank you Dr. McKee, Heather and others. cureSYNGAP1.org/MDBR26RecapMERCH - 19 days left!New t-shirts!  Buy for everyone! There are some funny ones this year and the classics. cureSYNGAP1.org/BonfireGENETIC TESTINGValuable resource as you have questions. curesyngap1.org/GTWARRIORS - Phoenix and KennacureSYNGAP1.org/WarriorTHINGS TO LOOK FORWARD TO…WEBINAR: Understanding ASOs & Informed ConsentJune 30 4:30 ET curesyngap1.org/calendar/understanding-asos-informed-consent5TH SCRAMBLE FOR SYNGAP, SC – 99 days till October 3rdClassic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26SHOOT FOR SYNGAP, UT – 141 days till November 14thfb.watch/HRnwf9FnEBFIGHT FOR FELIPE, MA - 155 days till November 29thcuresyngap1.org/Fight26CURE SYNGAP1 CONFERENCE - 159 days until December 3rd & 4thcureSYNGAP1.org/Denver rooms available: ‭cureSYNGAP1.org/denhyatt for $159.  In on Wed, out on Saturday.PUBMEDPubmed 2026 is at 38. +12 vs the week. (61 last year was +9) We are already at the 4th highest year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=dateProps to Dr. Frazier for yet another paper on SYNGAP1 based on his study, one of the best grants ever.https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70337USA 🇺🇲: Use your ICD-10, F78.A1SOCIAL MATTERS5,074 LinkedIn.  https://www.linkedin.com/company/curesyngap11.59k YouTube.  https://www.youtube.com/@CureSYNGAP111.1k Twitter https://twitter.com/cureSYNGAP143.8k Insta https://www.instagram.com/curesyngap1$CAMP closed at $3.92 yesterday.https://www.google.com/finance/beta/quote/CAMP:NASDAQLike and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10Episode 211 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

Friday, June 19, 2026 - Week 25June 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/DenverJoin 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 HISTORYGoes 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. 1. https://www.citizen.health/ai-advocate/syngap1 2. 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 ConsentJune 30 4:30 ET https://curesyngap1.org/calendar/understanding-asos-informed-consent/5TH SCRAMBLE FOR SYNGAP, SC – 106 days till October 3rdClassic case of a small event becoming an institution!cureSYNGAP1.org/Scramble26CURE SYNGAP1 CONFERENCE - 166 days until December 3rdcureSYNGAP1.org/Denver rooms available: ‭cureSYNGAP1.org/denhyatt for $159.  In on Wed, out on Saturday.USA: use your ICD-10, F78.A1: https://onlinelibrary.wiley.com/doi/10.1002/epi.70142PUBMEDPubmed 2026 is at 37. +12 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=dateSOCIAL MATTERS5,058 LinkedIn.  https://www.linkedin.com/company/curesyngap11.58k YouTube.  https://www.youtube.com/@CureSYNGAP111.1k Twitter https://twitter.com/cureSYNGAP145k Insta https://www.instagram.com/curesyngap1$CAMP closed at $4.13 yesterday.https://www.google.com/finance/beta/quote/CAMP:NASDAQLike and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10Episode 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 $300 was our match. Industry: MultipleAcademics & Clinicians: Stanford, Berkeley & UCSF.  Cross-pollination is always good.Speakers: Ash, John, Kathryn, Helen Willsey & Me.  Only got a video of John, which was a mistake. If you took one, please share.  Here is John: https://www.linkedin.com/posts/graglia_still-reflecting-on-our-inaugural-cure-syngap1-ugcPost-7467439971294048256-cUf9/ Dr. Willsey Rocks.Willsey Press Release https://www.eurekalert.org/news-releases/1130924 (both were at NoI).A few other points on HRW, as we call her.  Simons: https://curesyngap1.org/blog/future-research-for-syngap1-how-helen-willsey-broke-new-ground-frogs-in-hand/Willsey in Neuron 2021: https://www.cell.com/neuron/pdf/S0896-6273(21)00002-7.pdf (Frogs)Birtele in Nature Neuroscience 2023: https://www.nature.com/articles/s41593-023-01477-3 (Confirms)McCluskey in Nature Communications 2025: https://www.nature.com/articles/s41467-025-57342-3 (GI)Kostyanovskaya in BioRxiv 2025: https://pubmed.ncbi.nlm.nih.gov/39677731 (cilium)5TH SCRAMBLE FOR SYNGAP, SC – 114 daysClassic case of a small event becoming an institution!cureSYNGAP1.org/Scramble26CURE SYNGAP1 CONFERENCE - 175 dayscureSYNGAP1.org/Pre USA: use your ICD-10, F78.A1: https://onlinelibrary.wiley.com/doi/10.1002/epi.70142PUBMEDPubmed 2026 is at 35. +11 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=dateSOCIAL MATTERS5,045 LinkedIn.  https://www.linkedin.com/company/curesyngap11.58k YouTube.  https://www.youtube.com/@CureSYNGAP111.1k Twitter https://twitter.com/cureSYNGAP145k Insta https://www.instagram.com/curesyngap1$CAMP closed at $4.34 today.https://www.google.com/finance/beta/quote/CAMP:NASDAQLike and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10Episode 209 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

Tuesday, May 19, 2026 - Week 21Personal Update via Syngap Stories:Page: cureSYNGAP1.org/stories41 Post: https://www.linkedin.com/posts/syngap1stories-syngap1-curesyngap1-share-7462125026276777984-OVBr#ThisIsOursToLose - Three steps to engaging friends with CURE SYNGAP1.1. Share CURE SYNGAP1 Video - Burden, Hope & Progress - 1.1k views in 11 days.cureSYNGAP1.org/Burden https://www.linkedin.com/posts/syngap1-curesyngap1-raredisease-share-7458298251893448706-jfWF2. Send IMPACT REPORT - Tool for family, newly diagnosed & Fundraising.cureSYNGAP1.org/Impact or cureSYNGAP1.org/Impact253. Ask to Donatecuresyngap1.org/donate/CAMP4Joining us at the Night of Impact (with Stoke, Acadia, BioMarin, Gondola & others) and…https://www.biospace.com/press-releases/camp4-therapeutics-to-present-new-preclinical-data-demonstrating-cmp-002-improves-seizure-threshold-and-severity-in-a-model-of-syngap1-related-disorderINAUGURAL SF NIGHT OF IMPACT, CA – 9 daysJoin us this is our only Gala for 2026!cureSYNGAP1.org/SF265TH SCRAMBLE FOR SYNGAP, SC – 137 daysClassic case of a small event becoming an institution!cureSYNGAP1.org/Scramble26CURE SYNGAP1 CONFERENCE - 198 days.cureSYNGAP1.org/Pre26USA: use your ICD-10, F78.A1: https://onlinelibrary.wiley.com/doi/10.1002/epi.70142PUBMEDPubmed 2026 is at 31. +10 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=dateSOCIAL MATTERS4,964 LinkedIn.  https://www.linkedin.com/company/curesyngap11.58k YouTube.  https://www.youtube.com/@CureSYNGAP111.1k Twitter https://twitter.com/cureSYNGAP145k Insta https://www.instagram.com/curesyngap1$CAMP closed at $4.56 yesterday.https://www.google.com/finance/beta/quote/CAMP:NASDAQLike and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10Episode 208 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

Friday, May 8, 2026 - Week 19CURE SYNGAP1 STRATEGY WORKINGOur strategy has always been to derisk SYNGAP1 so that industry will invest and bring their skill and capital to bear.  We leverage donor dollars to maximize impact.  Yesterday was a great example:EARNINGS REPORTSCAMP4 1Q26 Results: $99M https://investors.camp4tx.com/news-releases/news-release-details/camp4-reports-first-quarter-2026-financial-results-and-corporateWe submitted our first regulatory filing for CMP-002 in Australia which positions us to initiate a global first-in-human Phase 1/2 clinical trial in the second half of 2026.Stoke 1Q26 Results: $411M https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-first-quarter-2026-financial Lead optimization is underway to identify a clinical candidate for the treatment of SYNGAP1 in 2026. SYNGAP1 is a severe and rare genetic neurodevelopmental disease.Praxis 1Q26 Results: $1.4B https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-19 Praxis remains on track to nominate a development candidate for each of its three early stage ASO therapeutic initiatives in the first half of 2026:  PRAX-090 is designed to address SYNGAP1 loss-of-function (LoF) mutations, a leading cause of severe intellectual disability and epilepsy in DEEs.#CompetitionIsGoodForThePatientKCNT1 Big Day today - CongratulationsPost: https://www.linkedin.com/posts/graglia_kcnt1-share-7458560855744618496-X10dPress Release: https://www.linkedin.com/posts/kcnt1-kcnt1-epilepsy-ugcPost-7458487179149787136-kH7cWATCH & SHARE OUR VIDEOWatch and share the new SYNGAP1 Video, it is excellent and helps explain our cause to families and friends.  We need to turn them into supporters and donors.cureSYNGAP1.org/SYNGAP1 -> https://youtu.be/pO3ayASBiEkINAUGURAL SF NIGHT OF IMPACT, CA – 20 daysJoin us this is our only Gala for 2026!cureSYNGAP1.org/SF265TH SCRAMBLE FOR SYNGAP, SC – 148 daysClassic case of a small event becoming an institution!cureSYNGAP1.org/Scramble26USA: use your ICD-10, F78.A1: https://onlinelibrary.wiley.com/doi/10.1002/epi.70142PUBMEDPubmed 2026 is at 28. +9 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=datehttps://pubmed.ncbi.nlm.nih.gov/42093631/ ADHD in patients with #DLG2 #NRXN1 #SHANK3 #SYNGAP1SOCIAL MATTERS4,940 LinkedIn.  https://www.linkedin.com/company/curesyngap11,569 YouTube.  https://www.youtube.com/@CureSYNGAP111.1k Twitter https://twitter.com/cureSYNGAP145k Insta https://www.instagram.com/curesyngap1$CAMP closed at $4.46. https://www.google.com/finance/beta/quote/CAMP:NASDAQ$STOK closed at $32.89. https://www.google.com/finance/beta/quote/STOK:NASDAQ$ACAD closed at $22.40. https://www.google.com/finance/beta/quote/ACAD:NASDAQ$PRAX closed at $330.02. https://www.google.com/finance/beta/quote/PRAX:NASDAQLike and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10Episode 207 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy

Wednesday, May 6, 2026 - Week 19Congrats to GETA, CURE SYNGAP1 Australia & CAMP4 for a great weekend. https://www.linkedin.com/posts/syngap1-epilepsy-ugcPost-7457791427486466048-j8SBWEBINARS!CURE-ID Webinar tomorrow! Register now. Thu May 7, 2026 1:30pm – 3pm (PDT) cureSYNGAP1.org/cureIDNext week, especially NY families, while you are registering, please make sure to go to this one with Dr. Buxbaum from Mt. Sinai. curesyngap1.org/seaver https://www.linkedin.com/posts/curesyngap1_curesyngap1-syngap1-rarediseaseresearch-activity-7457507565527044096-dDEKLongitudinal Data Matters - Every six months or more!Study list!CURE SYNGAP1 CONNECT http://curesyngap1.org/connectCitizen Health https://www.citizen.health/ai-advocate/syngap1Combined BrainProMMiS https://www.linkedin.com/feed/update/urn:li:activity:7450196488300728320 & Rare-X, the same week.OR DSC. #S10eCURE-ID for Drug responses. Webinar: Thu May 7, 2026 1:30pm – 3pm (PDT) cureSYNGAP1.org/cureID6th ANNUAL SPRINT FOR SYNGAP1, we raised over $300k! (Gross)Thank you Tavillas for raising over $170k this will go to the Missense fund. We spent over $¼M on missense last year.Thank you Emily Barnes for hosting a New England event for families. https://www.linkedin.com/posts/ecarlisle_we-had-an-incredible-sprint-for-syngap-ugcPost-7457845816502845440-nJCdThank you to Sara and Sarah for the Virginia event.  GREAT WORK. https://www.linkedin.com/posts/sarah-sakly-648544337_syngap1-raredisease-curesyngap1-ugcPost-7456869206341464065-VESzThank your Rifton for the donation of the tricycle.  Congratulations Matthew! https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-sprint4syngap-activity-7457806850676281344--JR-Thank you to the Edouard Family! cureSYNGAP1.org/Crafts26https://www.linkedin.com/posts/curesyngap1_curesyngap1-syngap1-craftsforacure-activity-7457211260242411520-ekPzINAUGURAL SF NIGHT OF IMPACT, CA – 22 daysJoin us this is our only Gala for 2026!cureSYNGAP1.org/SF265TH SCRAMBLE FOR SYNGAP, SC – 150 daysClassic case of a small event becoming an institution!cureSYNGAP1.org/Scramble26USA: use your ICD-10, F78.A1: https://onlinelibrary.wiley.com/doi/10.1002/epi.70142PUBMEDPubmed 2026 is at 27. +10 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=dateSOCIAL MATTERS4,931 LinkedIn.  https://www.linkedin.com/company/curesyngap11.56k YouTube.  https://www.youtube.com/@CureSYNGAP111.1k Twitter https://twitter.com/cureSYNGAP145k Insta https://www.instagram.com/curesyngap1$CAMP closed at $3.97 Friday.https://www.google.com/finance/beta/quote/CAMP:NASDAQLike and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10Episode 206 of #Syngap10 #CureSYNGAP1 #Podcast

Monday, April 20, 2026 - Week 17CURE SYNGAP1 joins the Haystack Project in petitioning FDA for more clarity.PR: https://static1.squarespace.com/static/5966cc2220099e91326caaec/t/69d7dbb80155f46e144ae2e5/1775754168227/4.9.26+press+release+petition_vf.pdfPetition: https://static1.squarespace.com/static/5966cc2220099e91326caaec/t/69d7e016d5986e16ff09b64c/1775755288463/Letter+Head+Petition+for+rulemaking+to+amend%C2%A021+CFR+%C2%A7+314.126+and+%C2%A0%C2%A7312.47+%281%29.pdfReuters 4/1: https://www.reuters.com/sustainability/boards-policy-regulation/rare-disease-advocacy-group-urges-trump-administration-restore-fda-clarity-2026-04-01/Pink Sheet: https://insights.citeline.com/pink-sheet/pathways-and-standards/review-pathways/could-structured-not-ad-hoc-us-fda-flexibility-increase-rare-disease-development-certainty-BYXJENIJLFEINOSO72RS53ZJHE/Show your support here: https://www.regulations.gov/document/FDA-2026-P-3666-0001Paragraph 1 – Share information about you and SYNGAP1.Paragraph 2 – Seizures are hard to count while X, Y and Z are major burdens but FDA wants nice countable seizures, this makes it hard to develop drugs.Paragraph 3 – How could “clinically meaningful” endpoints potentially help your community and drug developers? How could a study design other than a ‘randomized clinical trial’ help? How could FDA consulting with disease-specific experts help?Closing  – Finish your letter with anything along these lines: We support the framework for all rare set diseases in Haystack’s petition. We don’t believe FDA has to lower the evidentiary bar to approve treatments for our diseases. Randomization isn’t always possible. New scientific methods should be considered. Endpoints specific to our disease should be considered. We urge FDA to open a rulemaking so we can have a legally binding regulation.Board changes, thank you to everyone. https://www.linkedin.com/posts/curesyngap1_curesyngap1-syngap1-patientadvocacy-activity-7450528611339616256-4MJF?utm_source=share&utm_medium=member_desktop&rcm=ACoAAAAD8f4B7JC4TMss45Q8hrsq5kiceI0Z8HEPress Release cureSYNGAP1.org/PR45US, use your ICD-10, F78.A1: https://onlinelibrary.wiley.com/doi/10.1002/epi.70142Study list!Citizen Health https://www.citizen.health/ai-advocate/syngap1Combined Brain (May 1 & 2 in NorCal), https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit?usp=sharing ProMMiS https://www.linkedin.com/feed/update/urn:li:activity:7450196488300728320 Rare-X, the same week.DSC and Cook’s are coming soon!CURE-ID for Drug responses.CURE-ID is cool. https://cure.ncats.io/home (Webinar coming)Webinar: Thu May 7, 2026 1:30pm – 3pm (PDT) cureSYNGAP1.org/cureID 6th ANNUAL SPRINT FOR SYNGAP1, EVERYWHERE – 5 days - $207k! Go Tavilla.17 teams raised $265K last year; this year, we have 20+ teams!https://curesyngap1.org/calendar/sprint4syngap-2026Thank your Rifton for the donation of the tricycle.Email today: https://mailchi.mp/curesyngap1.org/sprint-for-syngap-2026-one-community-one-goal?e=17610baa03INAUGURAL SF NIGHT OF IMPACT, CA – 38 daysJoin us this is our only Gala for 2026!cureSYNGAP1.org/SF265TH SCRAMBLE FOR SYNGAP, SC – 166 days Classic case of a small event becoming an institution!cureSYNGAP1.org/Scramble26PUBMEDPubmed 2026 is at 26. +9 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=dateSOCIAL MATTERS4,891 LinkedIn.  https://www.linkedin.com/company/curesyngap11.55k YouTube.  https://www.youtube.com/@CureSYNGAP111.1k Twitter https://twitter.com/cureSYNGAP145k Insta https://www.instagram.com/curesyngap1$CAMP closed at $4.67 Friday.https://www.google.com/finance/beta/quote/CAMP:NASDAQLike and subscribe to this podcast wherever you listen.  https://curesyngap1.org/podcasts/syngap10Episode 205 of #Syngap10 #CureSYNGAP1 #Podcast

Tuesday, April 14, 2026 - Week 16Census is 1,761https://curesyngap1.org/blog/syngap1-census-2026-update-54-q1-total-1761Trip to Texas for UT Arlington and Cook Children'sSystems innovation with Dr. Lal and Dr. PerryMy post: https://www.linkedin.com/posts/graglia_raredisease-activity-7448087944466259970-MADW?utm_source=share*** Dr. Lal’s post: *** https://www.linkedin.com/posts/dennis-lal-71a8988a_epilepsies-neurodevelopmentaldisorders-raredisease-activity-7449111793991577600-sfXZProMMiS patients - 164 unique patients, 96 of whom have had 2 visits & 46 others 3-5 visitshttps://curesyngap1.org/resources/studies/syngap1-prommisCitizen - 289 registeredhttps://www.citizen.health/ai-advocate/syngap1Victoria Arteaga representing CURE SYNGAP1 at IBE Global Leaders Meeting https://www.linkedin.com/posts/victoria-arteaga-26913433_syngap1-rareepilepsy-dee-activity-7449587651885621248-UD9vNewsletter 51 www.cureSYNGAP1.org/NL51SYNGAP1 Snippets You are in this for life.Board meetings to approve budgets, fundraising has never been more important.6th ANNUAL SPRINT FOR SYNGAP1, EVERYWHERE – 12 days - $169k! Go Tavilla.17 teams raised $265K last year; this year, we have 24 teams who have raised almost $170K so far.https://curesyngap1.org/calendar/sprint4syngap-2026INAUGURAL SF NIGHT OF IMPACT, CA – 46 daysJoin us this is our only Gala for 2026!cureSYNGAP1.org/SF265TH SCRAMBLE FOR SYNGAP, SC – 174 days Classic case of a small event becoming an institution!cureSYNGAP1.org/Scramble26PUBMEDPubmed 2026 is at 24. +8 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=dateSOCIAL MATTERS4,869 LinkedIn.  https://www.linkedin.com/company/curesyngap11.55k YouTube.  https://www.youtube.com/@CureSYNGAP111.1k Twitter https://twitter.com/cureSYNGAP145k Insta https://www.instagram.com/curesyngap1$CAMP closed at $4.64 yesterday.https://www.google.com/finance/beta/quote/CAMP:NASDAQLike and subscribe to this podcast wherever you listen.  https://curesyngap1.org/podcasts/syngap10Episode 204 of #Syngap10 #CureSYNGAP1 #Podcast

Friday, April 3, 2026 - Week 14Just back from the DSC-III Kickoff Meeting!  As announced back in September 2025.  Really strong group of clinicians.  https://dsc.rarediseasesnetwork.org/patient-advocacy-groupsMore on DSC in #S10e184 https://curesyngap1.org/podcasts/syngap10/dsc-rdcrn-ncats-nih-press-aav-in-cell-srf-at-cb-scramble-for-syngap1-s10e184/We will have sites at SYNGAP1 established doctors, Dr. Wiltrout at Boston Children's Hospital/Harvard, Dr. Holder at Baylor and our very own ProMMiS Doctors: Knowles at Stanford / Dr. Abbott at Colorado.  AND, excitingly, these two new locations:Rush University Medical Center (Rush) led by Dr. Dr. Liz Berry-Kravis.University of Alabama at Birmingham led by Dr. Martina Bebin.Interestingly we are paired with PMS aka SHANK3 so the comparisons will naturally arise.  Both post-synaptic, they are a half step ahead of us.  (We will catch up!)  SHANK3 and SYNGAP1 have lots in commons: PSD, Synaptic Plasticity, mTOR.  Differences, we have more epilepsy, they have more Catatonia (see Table 2 in Trelles 2026 https://pubmed.ncbi.nlm.nih.gov/41895438/). After that I met with Dr. Xin Tang from BCH who is working on some exciting potential therapies and then over to CAMP4, who is moving at light speed.ILAE Rare Epilepsy Big Data Task Force for 4 years!  Makes me think about data…Where does SYNGAP1 Data Live?Citizen.Health RetrospectiveProMMiS ClinicalRare-X PRONow the DSC will have bothCombined Brain Registry and EEG Database.In Argentina SYNGAP1 Registry, potentially expanding to Chile and Colombia.In the EU there is PATRE part of EURAS.In the UK, it seems largely via NHS.In China, I don’t know but this paper shows us someone has 99 people: https://pubmed.ncbi.nlm.nih.gov/41914539/Where else?SYNGAP1 is having a moment, we need project manager volunteers.SPRINT FOR SYNGAP1, EVERYWHERE – 21 days - $132k!Get on the map!  https://curesyngap1.org/calendar/sprint4syngap-2026INAUGURAL SF NIGHT OF IMPACT, CA – 55 daysJoin us this is our only Gala for 2026!cureSYNGAP1.org/SF265TH SCRAMBLE FOR SYNGAP, SC – 183 days Classic case of a small event becoming an institution!cureSYNGAP1.org/Scramble26PUBMEDPubmed 2026 is at 22.  https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=dateSOCIAL MATTERS4,822 LinkedIn.  https://www.linkedin.com/company/curesyngap11.55k YouTube.  https://www.youtube.com/@CureSYNGAP111.1k Twitter https://twitter.com/cureSYNGAP145k Insta https://www.instagram.com/curesyngap1$CAMP closed at $4.47 today. https://www.google.com/finance/beta/quote/CAMP:NASDAQLike and subscribe to this podcast wherever you listen.  https://curesyngap1.org/podcasts/syngap10Episode 203 of #Syngap10 #CureSYNGAP1 #Podcast

Thursday, March 26, 2026 - Week 13Thanks for NL50 Ed!  cureSYNGAP1.org/NL50,  I listened to Episode 1 and, as it turns out, it was March 12, 2021 (five 5️⃣ years ago), and it’s evergreen.SEVEN THINGS YOU NEED TO DO TO BE READY FOR CLINICAL TRIALS1. Stay Connected to CURE SYNGAP1Fill in the Connect Form https://lnkd.in/grjd-H9HHave an annual call with LaurenSubscribe to the CURE SYNGAP1 Podcast everywhere and to our YouTube. 2. Know your mutation, have your genetic report. Memorize it or get a tattoo.3. Sign up for our Natural History StudiesLooking forward: ProMMiS https://lnkd.in/gh7t4s52 (Also helps you figure out travel).Looking back: Citizen Health https://lnkd.in/gKxg33QT4. Participate in Research, get your mutation affirmed and published.Join the CB BioRepository https://lnkd.in/giFhaGmpGive samples early and often, like me last week: https://lnkd.in/gfqKzNZbDo Surveys5. Educate yourself, start with these two blogshttps://curesyngap1.org/blog/emerging-medicines-syngap1-related-disorders-primer-comparison-glossaryhttps://curesyngap1.org/blog/preparing-for-syngap1-clinical-trials-what-families-need-to-know6. Extra Credit: Collect your EEGsGet them from everywhere you have been (check Citizen to be sure).Keep them handy on a google drive… like this: https://lnkd.in/g4DfkKAU Upload them to the CB EEG Repository. Email Lauren for info.#S10e123 https://lnkd.in/gxAFEnip7. Super Extra Credit: If you have a missense, intronic or other weird mutation. We should make a cell line which will allow further study. These cost ~$10k each, so we need to do a fundraiser, but we can help.#S10e SPRINT FOR SYNGAP1, EVERYWHERE – 29 daysGet on the map!  https://curesyngap1.org/calendar/sprint4syngap-2026INAUGURAL SF NIGHT OF IMPACT, CA – 63 daysJoin us this is our only Gala for 2026!cureSYNGAP1.org/SF265TH SCRAMBLE FOR SYNGAP, SC – 191 days Classic case of a small event becoming an institution!cureSYNGAP1.org/Scramble26SYNGAP1 AwarenessMust watch this episode of Kelly and Kyle.  Careful with those ASMs that challenge bone growth… https://curesyngap1.org/bonesPUBMEDPubmed 2026 is at 18.  Some great papers, but will discuss later. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=dateSOCIAL MATTERS4,786 LinkedIn.  https://www.linkedin.com/company/curesyngap11,540 YouTube.  https://www.youtube.com/@CureSYNGAP111.1k Twitter https://twitter.com/cureSYNGAP145k Insta https://www.instagram.com/curesyngap1$CAMP stock is at $4.75 on 25 Mar. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQLike and subscribe to this podcast wherever you listen.  https://curesyngap1.org/podcasts/syngap10Episode 202 of #Syngap10 #CureSYNGAP1 #Podcast

Friday, March 6, 2026 - Week 10WHAT DO WE NEED $ FOR?I talked in Episode 197 #S10e197 about scientific priorities, and in Episode 200 #S10e200 about areas of activity beyond science grants.  All of this is what we need to fund.SPRINT FOR SYNGAP1Sprint for SYNGAP is coming fast– 49 DAYS. Make a difference. Raise some money.Get on the map!  Text sprint26 to 71777https://curesyngap1.org/calendar/sprint4syngap-2026/INAUGURAL SF NIGHT OF IMPACTAlso to raise funds, please join us in SF on May 28th. 83 DAYS. Thanks to the organizational team Justin, Zoe, Ed, Jessica, etc.cureSYNGAP1.org/SF26 NHS MatterI talked in episode 198 #S10e198 about the importance of natural history studies. Check out this paper on Zuvenersen from Dravet to understand the long-term impact these studies could have.https://www.nejm.org/doi/full/10.1056/NEJMoa2506295 Join ProMMiS and Citizen Health.SHOUTOUTSRosie Davilla on Univision curesyngap1.org/rosie2026 >> https://www.univision.com/local/dallas-kuvn/syngap1-el-diagnostico-que-cambio-la-vida-de-rosie-en-texas-video#RareDiseaseDay TalksEmily Barnes @ Quiver; Paulina and Brian Sheehan @ Third Rock; Mike @ SparkNS; John Hill & Allison CNBC Cures.Beata’s double header SYNGAP1 Stories. Part 1.https://curesyngap1.org/podcasts/syngap1-stories/beata-tarasiuk/DSCIIIIn addition to Colorado Children’s & Stanford we are now in a study at Boston Children’s, Rush and U Alabama aka UAB.  Attending kick off for this at the end of the month.DATES TO TRACKScramble for Syngap - 5th annual on October 3 in S. Carolina in 211 DAYS cureSYNGAP1.org/Scramble26 Conference in Denver CO!  271 DAYS.  Sponsorship options in our #Prospectus for industry are available here https://curesyngap1.org/prospectus  Science Day - cureSYNGAP1.org/SD2025VideosFamily Day - cureSYNGAP1.org/FD2025VideosSee our entire library of webinars & videos on YouTube youtube.com/cureSYNGAP1 BIOSAMPLES & EEGs!Biorepository needs more samples.  Check out the list and map here https://combinedbrain.org/roadshow/ and contribute both blood & EEGs.  The data and research we do with these samples is invaluable.  Let us know if you are going, email our [email protected] 2026 is at 12, just like last week but am I seeing some amazing manuscripts! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date Two particularly cool papers:HDAC Inhibitors https://pubmed.ncbi.nlm.nih.gov/41777621/ A positive missense causing cognitive resiliencehttps://pubmed.ncbi.nlm.nih.gov/41777621/SOCIAL MATTERS4,732 LinkedIn.  https://www.linkedin.com/company/curesyngap11,535 YouTube.  https://www.youtube.com/@CureSYNGAP111.2k Twitter https://twitter.com/cureSYNGAP145k Insta https://www.instagram.com/curesyngap1$CAMP stock is at $4.59 on 5 Mar. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQLike and subscribe to this podcast wherever you listen.  https://curesyngap1.org/podcasts/syngap10/Episode 201 of #Syngap10 #CureSYNGAP1 #Podcast

Wednesday, February 25, 2026 - Week 9Thank you Virginie, Eric & Paulina for being in Cold DC right now with the Everylife Foundation!  https://www.linkedin.com/posts/curesyngap1_raredc2026-syngap1-curesyngap1-activity-7432425642295586816-IVDQNATURAL HISTORY STUDYSign up for Citizen Health cureSYNGAP1.org/Citizen and ProMMiS cureSYNGAP1.org/ProMMiSAnd now the Citizen Health App on iOS https://www.linkedin.com/posts/graglia_your-advocate-is-now-with-you-in-every-moment-activity-7432260543748579328--dvaBoard meeting… key message, we are much more than fundraising, grants and patient support.  Here is our list of non-grant projects.FundraisingRegulatory - IndustryRegulatory - FDAClinical Trial ReadinessStandard of CarePatient EngagementHealth Economics https://www.linkedin.com/posts/graglia_the-economic-impact-of-caregiving-for-individuals-activity-7431827551574011904-HvA4Global CoordinationNext steps with NALLPatient SupportNext steps with NortriptylineBIOSAMPLES & EEGs!Biorepository needs more samples.  Check out the list and map here https://combinedbrain.org/roadshow/ and contribute both blood & EEGs.  The data and research we do with these samples is invaluable.  Let us know if you are going, email our [email protected] - SPRINT4SYNGAPSprint is April 25 - our calendar page - cureSYNGAP1.org/Sprint - has all the information in the following links:Also, May 28, San Francisco, CA: cureSYNGAP1.org/SF26Scramble for Syngap - 5th annual on October 3 in S. Carolina cureSYNGAP1.org/Scramble26PUBMEDPubmed 2026 is at 9, just like last week but am I seeing some amazing manuscripts! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date (Remember we had 18 in all of ‘18)SOCIAL MATTERS4,700 LinkedIn.  https://www.linkedin.com/company/curesyngap11,530 YouTube.  https://www.youtube.com/@CureSYNGAP111.2k Twitter https://twitter.com/cureSYNGAP145k Insta https://www.instagram.com/curesyngap1$CAMP stock is at $4.70 on 24 Feb. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQLike and subscribe to this podcast wherever you listen.  https://curesyngap1.org/podcasts/syngap10/Episode 200 of #Syngap10 #CureSYNGAP1 #Podcast

Tuesday, February 17, 2026 - Week 8We are flat out, thank you to the team who work full-time on SYNGAP1: VM KAH LP PP & KF.CLINICAL TRIAL DESIGNWe are Angelman-like. (Rett also) https://aesnet.org/abstractslisting/differentiating-key-symptoms-of-angelman-syndrome-as-and-syngap1-via-caregiver-reported-and-us-claims-data-to-understand-differences-between-how-providers-and-caregivers-view-impacts-on-patient-careDravet or Angelman?  Phase 1/2 is when we try it all.  EEGs and NHS help with this effort.BIOSAMPLES & EEGs!Biorepository needs more samples.  Check out the list and map here https://combinedbrain.org/roadshow/ and contribute both blood & EEGs.  The data and research we do with these samples is invaluable.  Let us know if you are going, email our [email protected].(Stay tuned for another exciting device study…)NATURAL HISTORY STUDYSign up for Citizen Health cureSYNGAP1.org/Citizen and ProMMiS cureSYNGAP1.org/ProMMiSNHS Survey in English: https://curesyngap1.org/SurveyProMMiS & Spanish: https://curesyngap1.org/encuestaProMMiSLatest Pod on NHS: https://youtu.be/7W38uWKBIAw?si=lCrffwMXidmYWz7tFUNDRAISING - SPRINT4SYNGAPSprint is April 25 - our calendar page - cureSYNGAP1.org/Sprint - has all the information in the following links:set up your team - cureSYNGAP1.org/Sprint26resource guide for your event - cureSYNGAP1.org/S4SGuidewebinar #99 to help get you started - cureSYNGAP1.org/S4S25Also, May 28, San Francisco, CA: cureSYNGAP1.org/SF26Scramble for Syngap - 5th annual on October 3 in S. Carolina cureSYNGAP1.org/Scramble26PUBMEDPubmed 2026 is at 9! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date (Remember we had 18 in all of ‘18)Cool connection to #PraderWilli Syndrome. https://www.linkedin.com/posts/graglia_syngap1-praderwilli-autism-share-7429579885985296385-zuIHETC- More warriors cureSYNGAP1.org/Warrior- Dr. Donlin-Asp Press Release cureSYNGAP1.org/PR42 see talk here https://www.youtube.com/watch?v=lR8qcZK-9ro- Bravo Sara Driscol and GeneDx https://www.linkedin.com/posts/genedx_beyondawareforrare-ugcPost-7427763511235248129-QPPL?utm_source=share&utm_medium=member_desktop&rcm=ACoAAAAD8f4B7JC4TMss45Q8hrsq5kiceI0Z8HESOCIAL MATTERS4,686 LinkedIn.  https://www.linkedin.com/company/curesyngap11,520 YouTube.  https://www.youtube.com/@CureSYNGAP111.2k Twitter https://twitter.com/cureSYNGAP145k Insta https://www.instagram.com/curesyngap1$CAMP stock is at $3.85 on 17 Feb. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQLike and subscribe to this podcast wherever you listen.  https://curesyngap1.org/podcasts/syngap10/Episode 199 of #Syngap10 #CureSYNGAP1 #Podcast

Thursday, February 5, 2026 - Week 6Happy #RareDisease & #BlackHistory Month!#NaturalHistory means how this disease progresses.  Reminder: We have only been at this for 17 years, first patients were identified via Hamdan, 2009. https://pubmed.ncbi.nlm.nih.gov/19196676/Retrospective Digital NHS: cureSYNGAP1.org/Citizen (Growing list of tools available to families, for free)Prospective Multi-disciplinary Multi-site NHS: ProMMiS cureSYNGAP1.org/ProMMiSReminder, only possible by CS1 support for non-CHOP sites and travel plus huge gift to Penn. https://www.chop.edu/news/25-million-gift-penn-medicine-and-children-s-hospital-philadelphia-establishes-center-epilepsyPotential for being a control arm in the future.Protocol: https://www.linkedin.com/posts/curesyngap1_syngap1-stxbp1-dee-activity-7425223573134327808-SVEQ & early data: https://pubmed.ncbi.nlm.nih.gov/40119723/Join the ~160 families who have enjoyed excellent clinical care and contributed tot he future of SYNGAP1.  Today, a 4 month old is going!CHOP: 119 new, V2- 67, V3- 32, V4- 10, V5- 4CHCO: 37 new, V2- 7Stanford: 8 new, V2- 2Total: 164 (double counting one family who goes to multiple sites)SurveyEnglish: https://curesyngap1.org/SurveyProMMiS Spanish: https://curesyngap1.org/encuestaProMMiS94 Responses to survey, so far:Why not? Did not receive an invitation, Too far to travel, Too expensiveBarriers: Logistics, Cost, Time off, Behaviors, InsuranceETC.Pubmed 2026 is at 6!  But will soon be 7 with the McKee paper!https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=dateBiorepository needs more samples.  Check out the list and map here https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit?usp=sharing and contribute blood.  The data and research we do with these samples is invaluable.May 28, San Francisco, CA: cureSYNGAP1.org/SF26SOCIAL MATTERS4,668 LinkedIn.  https://www.linkedin.com/company/curesyngap1/1,520 YouTube.  https://www.youtube.com/@CureSYNGAP111.2k Twitter https://twitter.com/cureSYNGAP145k Insta https://www.instagram.com/curesyngap1/$CAMP stock is at $3.59 on 5 Feb. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQLike and subscribe to this podcast wherever you listen.  https://curesyngap1.org/podcasts/syngap10/Episode 198 of #Syngap10 #CureSYNGAP1 #Podcast

All US Families, please take the time to fill out the ProMMiS Survey. It takes 5 minutes. It's super important. Even if you haven't been there, we need your feedback.English: https://curesyngap1.org/SurveyProMMiS  Spanish: https://curesyngap1.org/encuestaProMMiSOur funding priorities for 2026 are Genetics, Behaviors & Isoforms. https://www.linkedin.com/posts/graglia_syngap1-curesyngap1-grants-activity-7421952845693788160-EHeK Pubmed 2026 is at 6!https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=dateCoolest paper on Pubmed… GC rich areas were missed, so not only do we need to push for testing, but also REtesting.https://pubmed.ncbi.nlm.nih.gov/41577710/Bravo to CURE SYNGAP1 Poland (please send me a shirt) & thank you to CAMP4Event: https://www.linkedin.com/posts/curesyngap1_it-was-a-day-to-remembera-perfect-combination-activity-7422379922578587648-wNBPDon’t move to or from US/EU/LatAm etc.  This question keeps coming.  Please stay where you are and advocate like crazy.  Set up CURE SYNGAP1 [Your location]Biorepository needs more samples.  Check out the list and map here https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit?usp=sharing and contribute blood.  The data and research we do with these samples is invaluable.Annual update to Champions of Hope! https://curesyngap1.org/champions-of-hope/ May 28, San Francisco, CA: cureSYNGAP1.org/SF26 SOCIAL MATTERS4,661 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ 1,520 YouTube.  https://www.youtube.com/@CureSYNGAP1   11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1/ $CAMP stock is at $3.83 on 27 Jan. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQLike and subscribe to this podcast wherever you listen.  https://curesyngap1.org/podcasts/syngap10/Episode 197 of #Syngap10 #CureSYNGAP1 #Podcast

Friday, January 16, 2026 - Week 3Stoke Phase 3 Rapid Recruitment - A timeline that is ours to beat!https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-updates-timelines-completionIf Marcin can make it from Poland, you can make it from where you are! cureSYNGAP1.org/MarcinCAMP4 Website is great and features Dani Williams!https://www.camp4tx.com/Newsletter is out!  https://cureSYNGAP1.org/NL49 Sara Driscoll Genetic Testing Story - Share it or copy it!https://cureSYNGAP1.org/GenTestPubmed 2026 is at 3!https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=dateSOCIAL MATTERS4,604 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ 1,510 YouTube.  https://www.youtube.com/@CureSYNGAP1   11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1/ $CAMP stock is at $5.78 on 15 Jan. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQLike and subscribe to this podcast wherever you listen.  https://curesyngap1.org/podcasts/syngap10/Episode 196 of #Syngap10 #CureSYNGAP1 #Podcast

SYNGAP1 Related Disorder (SRD) Key Talking Points & why we need to use them. #S10e195Saturday, January 10, 2026 - Week 2Here are key talking points to reference when talking about SRD.   Please let us know your thoughts about how these could be better. https://docs.google.com/document/d/1lXaDQEVwF1K_yAU-RicaJibxb8xoJtldSvnVgopwu00/edit?usp=sharing SOCIAL MATTERS4,546 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ 1,500 YouTube.  https://www.youtube.com/@CureSYNGAP1   11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1/ $CAMP stock is at $6.20 on 8 Jan. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQLike and subscribe to this podcast wherever you listen.  https://curesyngap1.org/podcasts/syngap10/Episode 195 of #Syngap10 #CureSYNGAP1 #Podcast

Friday, January 9, 2026 - Week 2Big news in SYNGAP-land, Becky Quick and Matt Quayle have a beautiful SynGAPian named Kaylie & they are launching CNBC Cures!- Wonderful to have more awareness of SYNGAP1, I hope it leads to more diagnoses.- My two favorite quotes from the episode and podcast: “There is no Mission without Money”-BQ & “She has reset our whole life plan…one day I’m going to be gone and is Kaylie going to be ok?”-MQ- Here is our page with all the links! https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-cnbccures-activity-7415094066675216387-32wFcuresyngap1.org/kaylieIt's important for us all to remember that it can take time to find our voice. And then use it.Speaking of using our voice, what can you say? We worked yesterday on Key Talking points which will live here and I will talk about them in the next episode.  https://docs.google.com/document/d/1lXaDQEVwF1K_yAU-RicaJibxb8xoJtldSvnVgopwu00/edit?usp=sharingFirst paper of 2026, Challenges of Caregiving in SYNGAP1, STXBP1, and TSC.https://pubmed.ncbi.nlm.nih.gov/41405416/PUBMED is at 1 for the year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2026&timeline=expanded&sort=dateSOCIAL MATTERS4,546 LinkedIn.  https://www.linkedin.com/company/curesyngap1/1,500 YouTube.  https://www.youtube.com/@CureSYNGAP111.2k Twitter https://twitter.com/cureSYNGAP145k Insta https://www.instagram.com/curesyngap1/$CAMP stock is at $6.20 on 8 Jan. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQLike and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/Episode 194 of #Syngap10 #CureSYNGAP1 #Podcast

Friday, January 2, 2026 - Week 1#SynGAPCensus = 1,707 https://curesyngap1.org/blog/syngap1-census-2025-update-32-q4-2025-1707/From the Cantor Report on CAMP4 The Stockdale Paradox. The best way to succinctly describe CAMP4 and the parties driving progress in this field (Cure SYNGAP1, families, researchers) is, for anyone familiar with Jim Collins' book "Good to Great," they have fully embraced the "Stockdale Paradox": To succeed in difficult circumstances you must 1) confront the brutal facts (severity of the disorder, devastatingimpact on patients and families, lack of treatment) while 2) maintaining unwavering faith that you can and will prevail in the end. It gives us conviction that there WILL be a therapy approved for SYNGAP sooner than later and CAMP is most likely to deliver it.Read more on Jim Collins site:https://www.jimcollins.com/concepts/Stockdale-Concept.htmlThis is exactly what SYNGAP1 Argentina achieved at our conference.  Acting with certainty that they can and will prevail.Check out their exceptional flyer: https://drive.google.com/file/d/1O_DldABKTkB9ZLIiUBqXGBMrtlzie-7i/view?usp=share_link PUBMED is at 59 for the year, that is +4 over our best year, last year.  177 since 2022, almost half of our SYNGAP1 Knowledge (366) has been created in the past 4 years!https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2026&timeline=expanded&sort=date #20Posters Speaking of publications, I talked about 16 posters at AES this year and shared on LI, but I was wrong in the responses I realized we are up to 20! https://www.linkedin.com/posts/graglia_syngap1-curesyngap1-activity-7408291479187755008-rMru Mutation Tattoo Storyhttps://www.linkedin.com/posts/shriya-bhat-0b845b203_at-a-patient-advocacy-meeting-in-nashville-activity-7409304451821277184-TO0t SOCIAL MATTERS4,529 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ 1,500 YouTube.  https://www.youtube.com/@CureSYNGAP1   11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1/ $CAMP stock is at $6.00 on 2 Jan. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQLike and subscribe to this podcast wherever you listen.  https://curesyngap1.org/podcasts/syngap10/Episode 193 of #Syngap10 #CureSYNGAP1 #Podcast

Saturday, December 20, 2025 - Five days till Christmas, 11 days left to raise funds to CURE SYNGAP1AES was exceptional in many ways, here are a few:Rare & SYNGAP1 were both very visible, posters with our Logo and names of staff were seen! Posters: https://www.linkedin.com/posts/graglia_syngap1-curesyngap1-activity-7408291479187755008-rMruOur conference was standing room only and had investors!  Even got a mention in their research report! https://www.investing.com/news/analyst-ratings/cantor-fitzgerald-reiterates-overweight-rating-on-camp4-therapeutics-stock-93CH-4403281ProMMiS Launch was a massive win for patients.  Collaboration.Praxis and Lunbeck recruited for exciting drugs and CAMP4 talked about their ASO and recruiting next year.Our community's presence was felt well into AES.Aarons’ post on growth! https://www.facebook.com/aaron.j.harding.5/posts/pfbid0231DtMVUtkZa4eXLv8C8qbf4xEN95aRP1xJ8sGNNvun7aDuUyZVatMWUjjigdXfg1l Pre-register now for Denver: cureSYNGAP1.org/Pre26Fundraising. We are YTD $1.68M which is below $1.86M in ’23 and $1.97M in ’24.  We need to really double down on fundraising for the next two weeks and into next year.  Support our campaign at curesyngap1.org/unlockACTION ALERT 🚨Call Bernie and urge him to help children at NO COST to the USG by supporting the PRV. (202) 224-5141https://www.linkedin.com/posts/christine-waggoner-71b1555_mibagents-makeitbetter-osteosarcoma-activity-7408186315592085504-A6AY PUBMED is at 58 for the year, that is +4 over our best year, last year.  187 since 2022, more than half of our SYNGAP1 Knowledge (365) has been created in the past 4 years!https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2026&timeline=expanded&sort=date SOCIAL MATTERS4,519 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ 1,490 YouTube.  https://www.youtube.com/@CureSYNGAP1   11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1/ $CAMP stock is at $6.38 on 19 Dec. ‘25 https://www.google.com/finance/beta/quote/CAMP:NASDAQLike and subscribe to this podcast wherever you listen.  https://curesyngap1.org/podcasts/syngap10/Episode 192 of #Syngap10 #CureSYNGAP1 #Podcast

#CyberMonday, December 1, 2025. Week 49.Go buy The Monster Inside My Brother by Nicole Ciccone illustrated by Lena Bardy.Bookshop: https://bookshop.org/p/books/the-monster-inside-my-brother-nicole-ciccone/8986b9c64d1ebe5d?ean=9798999980700&next=t&Barnes and Noble: https://www.barnesandnoble.com/w/the-monster-inside-my-brother-nicole-m-ciccone/1148368158 Amazon: ​​https://a.co/d/imfxmwGSee you Thursday at the CURE SYNGAP1 Conference 2025 Atlanta: https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/SOCIAL MATTERS4,474 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ 1,480 YouTube.  https://www.youtube.com/@CureSYNGAP1   11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1/ $CAMP stock is at $3.80 on 26 Nov. ‘25 https://www.google.com/finance/beta/quote/CAMP:NASDAQEpisode 191 of #Syngap10 #CureSYNGAP1

Happy Thanksgiving… Thursday, November 27, 2025. Week 48.Continued from #S10e189…And the AAV Paper (https://pubmed.ncbi.nlm.nih.gov/40988338/) from #S10e187… https://curesyngap1.org/podcasts/syngap10/clinical-research-ai-dx-nl47-survey-autism-press-6-days-to-register-for-syngap1conf-s10e187/https://curesyngap1.org/blog/Issac’s story, Transmitter reprint, Scramble 4 write up and JK on #Autism, #MustReadhttps://curesyngap1.org/resources/webinars/ 119 - 112Register for livestream of the conference, AAV from Allen Inst., dos en espanol, Missense, Unlock and Rare-X for ProMMiS.https://curesyngap1.org/podcasts/syngap1-stories/ A gold mine have you listened to #38, the Virginie Pod, really must listen, she is our leader. https://www.linkedin.com/posts/graglia_syngap1stories-syngap1-syngap1storiesty-activity-7387203351907708928-liNLCLINICAL TRIAL & GENETIC MEDICINE CORNERExample of Ultragenyx FAST Angelman follow on trial to look at other ages and genotypes, key message, never give up. https://www.linkedin.com/posts/cureangelman_the-global-aurora-study-will-enroll-approximately-activity-7389647402690957312-Bihi Congrats to Novartis on approval of the first Gene Therapy to Cure SMA!https://www.linkedin.com/posts/graglia_sma-fdaapproval-rarediseaseinnovation-activity-7398939783005347840-Ocd_ Remember Spinraza was approved in December 2019.TODOS1. Sign up for Citizen Health: https://www.citizen.health/partners/srf2. USE YOUR ICD-10 F78.A1 #S10e185 https://www.youtube.com/watch?v=dale0NbxDpU3. Go to CURE SYNGAP1 Conference 2025 Atlanta: https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/SOCIAL MATTERS4,468 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ 1,480 YouTube.  https://www.youtube.com/@CureSYNGAP1   11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1/ $CAMP stock is at $3.62 on 26 Nov. ‘25 https://www.google.com/finance/beta/quote/CAMP:NASDAQEpisode 190 of #Syngap10 #CureSYNGAP1

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-7392679496266436608-7kWoBootcamp https://www.linkedin.com/posts/graglia_rarebootcamp-syngap1-precisionmedicines-activity-7396249525214031872-RvsXProMMiS - 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 [email protected] TUESDAY1 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-DXWICONFERENCE- 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: [email protected] 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=dateMovement disorder comparison: https://www.medrxiv.org/content/10.1101/2025.11.04.25339413v1.full.pdfSLEEP - SRD Patients are the worst https://pubmed.ncbi.nlm.nih.gov/41138043/ aligned with CSH paper https://pmc.ncbi.nlm.nih.gov/articles/PMC8472329/ TODOS1. Sign up for Citizen Health: https://www.citizen.health/partners/srf2. USE YOUR ICD-10 F78.A1 #S10e185 https://www.youtube.com/watch?v=dale0NbxDpU3. Go to CURE SYNGAP1 Conference 2025 Atlanta: https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/SOCIAL MATTERS4,468 LinkedIn.  https://www.linkedin.com/company/curesyngap1/1,480 YouTube.  https://www.youtube.com/@CureSYNGAP111.2k Twitter https://twitter.com/cureSYNGAP145k Insta https://www.instagram.com/curesyngap1/$CAMP stock is at $3.62 on 26 Nov. ‘25 https://www.google.com/finance/beta/quote/CAMP:NASDAQEpisode 189 of #Syngap10 #CureSYNGAP1

Sunday, November 9, 2025. Week 46.End of year campaign: UNLOCK THEIR TOMORROW, curesyngap1.org/unlock   Why now? UNLOCK It’s giving season. Count our blessings and share what we have.  CS1 has moved mountains this year: Staff, ProMMiS, etc. But we are just starting…Every single family should give and should solicit their friends.  Yes, it’s a tough time.  Yes, people have other causes.  No (most of) your friends don’t have a SynGAPian.Miss 100% of the shots you don’t take.  And remember, donors learn about what they give to, so even small donations cause huge changes in awareness.Go to our Champions page: https://curesyngap1.org/champions-of-hope/Tony, Myla, Hattie, Jansen, Kai, Sophia, Kaylie, Gracie are at $50k+.  Eight families.  It’s only five at $100k+.  I think we can do better.  I also think we should have more participation at every level, we can’t lean on a handful of families to carry this organization.These families get something key: CURE SYNGAP1 is in it for the long run, unlike EVERYONE ELSE you are supporting.  Great that you are doing schools, horses, girl scouts, etc, but the only people asking you for money right now that are going to be fighting for your kid in 5, 10, or 50 years, is CURE SYNGAP1.  The only group who won’t kick your family/loved one out of our community when your SynGAPian bites one of our staff or elopes from a meeting across streets.  Also us.  The people who understand SYNGAP1 the best.  Right here.Technicals, we could not make this easier!Take 5 minutes to build your own fundraiser or simply email friends/family/co-workers/church associates/other kids’ sports team parents/etc. It’s uncomfortable but essential. It’s so darn easy to give - 💻 ONLINE @ CURESYNGAP1.ORG/UNLOCK Use Credit Card, PayPal, Venmo, Google & Apple📱 PHONE - Text UNLOCK to 71777, then follow the instructions.📬 MAIL A CHECK CURE SYNGAP1, PO Box 515734 Los Angeles, CA 90051-5150Two more questions:?1: Aren’t we done now with CAMP4?  No.  Three reasons: Clock, Count, unknowns.  Clinical research.  Behavioral interventions.  Optimal medications.  Missense research.  Patient discovery.  Drug repurposing.  Family support.  Global coordination.?2: Our name is a demand: CURE SYNGAP1, and we are not there yet.   SRF suggested that funding science was enough, boy were we wrong.We need patients to be Support.  Educate.  Activate.  Coordinate.  I discussed the many ways a PAG matters in #S10e181.  (I missed data & should have clinical separate, will redo.) https://curesyngap1.org/podcasts/syngap10/patient-advocacy-groups-matter-party-friday-syngap1conf-soon-elopement-s10e181/Every single family needs to help us raise funds.  Every single one.SOCIALS4,426 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ 1,480 YouTube.  https://www.youtube.com/@CureSYNGAP1   11k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1/ $CAMP stock is at $4.25 on 7 Nov. ‘‘25 https://www.google.com/finance/beta/quote/CAMP:NASDAQEpisode 188 of #Syngap10 #CureSYNGAP1

Saturday, October 25, 2025. Week 43.Time to advocate, ELF on the Hill, support available, apply now: https://www.linkedin.com/posts/everylifeorg_were-excited-to-join-everyone-on-capitol-activity-7384625926333943808-mO1U/PUBMED at 47, and low. Clinical research!https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&sort=date- CHOP EEG ProMMiS ​​https://www.neurology.org/doi/10.1212/WNL.0000000000214148?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed- COMMUNICATION #ORCA https://acamh.onlinelibrary.wiley.com/doi/full/10.1111/jcpp.70063Doing surveys gets us into papers like ORCA, helps us raise awareness of SRD.  This one on AI is really interesting: https://redcap.tch.harvard.edu/redcap_edc/surveys/?s=YFHYH7T7LTPAL44XNewsletter #47https://mailchi.mp/curesyngap1.org/unlock-their-tomorrow-issue47 IPM on SRD AAV https://www.insideprecisionmedicine.com/topics/precision-medicine/gene-therapy-reverses-syngap1-brain-disorder-symptoms-in-mice/NYT Take on #Autism is very good, thank you Azeen GhorayshiSplit the Autism Spectrum: https://www.nytimes.com/2025/10/01/health/autism-spectrum-neurodiversity-kennedy.html?unlocked_article_code=1.q08.NXEA.fg5ulHeTHUeJ&smid=url-share quotes Jackie K, explores argument for Profound & Severe Autism as a category. Our own Jackie Kancir has a great substack, listen to it in her voice here: https://jkancir.substack.com/p/autism-is-not-my-daughter-nor-herTylenol: https://www.nytimes.com/video/science/100000010414944/trump-pushes-unproven-link-between-tylenol-and-autism.htmlSign up for Citizen Health:https://www.citizen.health/partners/srfCURE SYNGAP1 Conference 2025 Atlanta: https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/USE YOUR ICD-10 F78.A1 #S10e185 https://www.youtube.com/watch?v=dale0NbxDpUSOCIALS4,417 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ 1,470 YouTube.  https://www.youtube.com/@CureSYNGAP1   11k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1/ Episode 187 of #Syngap10 #CureSYNGAP1

Friday, October 3, 2025. Week 40.#SyngapCenus 1,675 https://curesyngap1.org/blog/syngap1-census-2025-update-39-q3-2025-total-1675/Rachel J. made an educator handout https://curesyngap1.org/blog/supporting-students-with-syngap1-related-disorders/Sign up for Citizen Healthhttps://www.citizen.health/partners/srfCC/VNS Research w/ Citizen https://www.linkedin.com/posts/citizen-health-inc_syngap1-dee-raredisease-activity-7378823288950575105-YjP3 Rhymes with recent publication from Dr. Perry on Dravethttps://www.tandfonline.com/doi/full/10.1080/14737175.2025.2562118Citizen AI Advocate avail. for SYNGAP1 families https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-raredisease-activity-7378443770201047040-ORGj $CAMP starts GLP Tox https://www.linkedin.com/posts/camp4-therapeutics_syngap1-activity-7379142427149881344-cBFECF initiates coverage at Overweight https://www.investing.com/news/analyst-ratings/cantor-fitzgerald-initiates-camp4-therapeutics-stock-with-overweight-rating-93CH-4268395$CAMP $2.98 at close on 10/2 https://www.google.com/finance/beta/quote/CAMP:NASDAQCIRM funds SYNGAP DISC0-17998 grant proposal from Iris Medicine team, in collaboration with Dr. Gene Yeo’s team (UCSD) https://www.cirm.ca.gov/about-cirm/newsroom/press-releases/cirm-approves-73-million-in-awards-for-discovery-research/Scramble in SC on October 4th https://www.linkedin.com/posts/julie-miles-4294322ba_scramble-for-syngap-activity-7370558331611971585-iw0A CURE SYNGAP1 Conference 2025 Atlanta https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/USE YOUR ICD-10 F78.A1e185 https://www.youtube.com/watch?v=dale0NbxDpUSOCIALS4,381 LinkedIn.  https://www.linkedin.com/company/curesyngap1/1,450 YouTube.  https://www.youtube.com/@CureSYNGAP111k Twitter https://twitter.com/cureSYNGAP145k Insta https://www.instagram.com/curesyngap1/Episode 186 of #Syngap10 #CureSYNGAP1

Wednesday, October 1st, 2025. Week 40.SYNGAP1 Related Disorders secured an ICD-10 code exactly four years ago today, through the advocacy of SRF and the hard work of volunteers like Hans Schlecht.  Our code is F78.A1Blog: https://curesyngap1.org/blog/syngap1-assigned-its-own-icd-10-code-f78-a1-srf/Check out #S10e8 to learn more: https://www.youtube.com/watch?v=tZ5s5rQawXgRead the case study: https://everylifefoundation.org/icd-code-roadmap/#toggle-id-13Hear from other leaders: https://effieparks.com/podcast/episode-224-the-complicated-world-of-icd10-codes-with-ceo-and-co-founder-of-slc6a1-connect-amber-freedWhy does it matter and where are we now?  It helps us find patients and it helps doctors and companies find YOU.  We  aren’t where we should be.Dr. Lal’s sobering post: https://www.linkedin.com/posts/dennis-lal-71a8988a_raredisease-epilepsy-precisionmedicine-activity-7373307411383857152-dQS0Preprint: https://www.medrxiv.org/content/10.1101/2025.09.12.25335652v1.full.pdfTABLE 1. List of monogenic epilepsies with a syndrome-specific ICD-10 code, associatedgenes, and code implementation dates.Syndrome ICD-10 Code Gene Effective Date21Rett syndrome F84.2 MECP2 10/01/2015Glucose transporter protein type 1 deficiency syndrome (GLUT1-DS) E74.810 SLC2A1 10/01/2020Cyclin-dependent kinase-like 5 deficiency disorder (CDD) G40.42 CDKL5 10/01/2020Dravet syndrome G40.83 SCN1A 10/01/2020SYNGAP1-related intellectual disability (SYNGAP1-ID) SYNGAP1 F78.A1 10/01/2021 MED13L syndrome Q87.85 MED13L 10/01/2023Phelan-McDermid syndrome Q93.52 SHANK3 10/01/2023SLC13A5 citrate transporter disorder E74.820 SLC13A5 10/01/2024KCNQ2-related epilepsy G40.84 KCNQ2 10/01/2024Kleefstra syndrome Q87.86 EHMT1 10/01/20245 ConclusionSyndrome-specific ICD-10 codes for monogenic epilepsies are markedly underutilized, even for patients with confirmed molecular diagnoses and established clinical syndromes. In our cohort, fewer than two-thirds of eligible patients were ever documented with their syndrome-specific ICD-10 code, and when used, these codes were applied inconsistently across encounters, specialties, and time. Such gaps hinder the reliable identification of patients for precision therapies, clinical trials, and research studies, limiting the intended value of these codes....Who else got them?  New DEE Codes effective 10/1/2025! https://www.cdc.gov/nchs/icd/icd-10-cm/files.html#FOXG1 Q04.8 https://www.foxg1research.org/news/foxg1-syndrome-icd-10-code#Kabuki Q87.0#USP7 Q87.87 https://www.linkedin.com/posts/foundation-for-usp7-related-diseases_were-proud-to-share-an-important-milestone-activity-7375555189539348480-77n3 #CTNNB1 Q87.88 https://www.linkedin.com/posts/ctnnb1_ctnnb1-connectandcure-ctnnb1syndrome-activity-7376633308836683777-fRYC #SCN2A QA0.0101 https://www.scn2a.org/from-advocacy-to-action-scn2a-now-has-its-own-icd-10-code/#CACNA1A QA0.0102 https://www.linkedin.com/posts/cacna1a-foundation_huge-milestone-for-our-cacna1a-community-activity-7358883822282653696-xWr5 ....#DLG4 QA0.0149 #Usher H35.5CombinedBRAIN Rent a Neuro: https://combinedbrain.org/rent-a-neuroscientist/CB Slide on ICD-10: https://docs.google.com/presentation/d/1wys1RLbJWBtK9eh7xSd_Lm-xwqbeZMSnM7xcCQznE8M/edit?usp=sharing Everylife Roadmap: https://everylifefoundation.org/icd-code-roadmap/REN ICD-10 page: https://www.rareepilepsynetwork.org/about-icd-codesEVENTS!Scramble this weekend in Greer, SC! https://donate.curesyngap1.org/event/scramble-for-syngap-2025/e667451Conference on Dec 4 & 5 in Atlanta, don’t miss. https://donate.curesyngap1.org/event/cure-syngap1-conference-2025-hosted-by-srf/e661355CURE SYNGAP1 CONNECThttps://curesyngap1.org/curesyngap1connect/ NEWLY DIAGNOSED?New families have resources here! https://syngap.fund/Resources   ...Episode 185 of #Syngap10 #CureSynGAP1#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Friday, September 26, 2025. Week 39.In this episode of Syngap10, we continue the conversation from Episode 183, sharing the latest milestones and moments with our SYNGAP1 community.DSC has announced!DSC (part of RDCRN, part of NCATS, part of NIH) also announced and continues to raise profile of SYNGAP1 Related Disorders (SRD)Key post https://www.linkedin.com/posts/curesyngap1_86-million-nih-grant-renews-support-for-activity-7373870761230589952-aV1M #RDCRN List with #DSC https://ncats.nih.gov/research/research-activities/rdcrn/consortiaIn addition to that, the DSC was formally announced, and will result in five years of SYNGAP1 securing a spot on the map.  This was because of an SRF grant years ago!  Grant https://curesyngap1.org/blog/syngap-research-fund-announces-308-000-multidisciplinary-biomarker-grant-to-boston-childrens-hospital/Pubmed is at 44! (+2 v ‘23, -10 v ‘24, 2nd place) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=ascCell Paper on AAV in Mice: https://www.linkedin.com/posts/boaz-levi-07387741_aav-delivery-of-full-length-syngap1-rescues-activity-7376306391537532928-iT9u Last week was a CB Conf in Nashville, attended by KAH and VA, thank you to both.  KAH in Staff yesterday, the hardest thing is not seeing Joey.  ☹️  Thanks to MS for going too.MS https://www.linkedin.com/posts/melissasmith1_raredisease-patientadvocacy-syngap1-activity-7374408667091333120-Udp0/KAH https://www.linkedin.com/posts/kathryn-syngap-research-fund_the-combinedbrain-conference-in-nashville-activity-7374639535021928448-gWB4 Two big upcoming events:Scramble in SC on October 4th https://www.linkedin.com/posts/julie-miles-4294322ba_scramble-for-syngap-activity-7370558331611971585-iw0A CURE SYNGAP1 Conference 2025 in Atlanta https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/SOCIAL MATTERS- 4,371 LinkedIn. https://www.linkedin.com/company/curesyngap1/- 1,440 YouTube. https://www.youtube.com/@CureSYNGAP1- 11,292 Twitter. https://twitter.com/cureSYNGAP1- 45k Instagram. https://www.instagram.com/curesyngap1/COMPANIES WITH NAMED ASSETS FOR SYNGAP1$CAMP $3.00 at close on 9/23Episode 184 of #Syngap10 #CureSYNGAP1#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Friday, September 26, 2025. Week 39.In #S10e182 I told you about CAMP4, don’t miss that, watch here: https://www.youtube.com/watch?v=PZ0Oj-Zz-B0 Sharing research comments from William Blair & WedbushWilliam Blair Initiation of Coverage: “Among several quality investors, the private placement included the Syngap Research Fund, which is active in the Syngap1 patient community and will be an important resource in aiding patient identification and enrollment in the Phase 1/2 trial in our view.”WedbushPh1/2 Will Likely Begin From Ex-U.S., Aiming for Early Intervention. Citing precedents of other intrathecally delivered antisense oligonucleotide programs for CNS indications, where the FDA oftentimes required sponsors to begin at a dose level well below the efficacious dose, CAMP plans to begin patient dosing outside the U.S. for the potential to go directly to doses that are expected to show efficacy. The selection of patient age range will depend on regulatory discussions, and management highlighted the impact of the disease on neurodevelopment, so early intervention could allow patients to have a better opportunity to achieve as normal as possible development.CAMP Will Have Access to Natural History Data being Collected by SRF and CHOP. According to management, a natural history study is being conducted by SynGAP Research Fund (SRF), which also participated in the private placement, in collaboration with Children's Hospital of Philadelphia (CHOP), and CAMP will have access to data as well as patients for future clinical study enrollment.Donate now: https://curesyngap1.org/donate/Beacon of Hope was a great success, raised over $100k.  We need to do this every year.  Thanks to Navarros for getting this launched, also to SJ, Emily Barnes, Peter Halliburton, & Kathryn Helde who helped make this event incredible.Emmy’s video (top of) https://curesyngap1.org/resources/movies/ Blog: https://cureSYNGAP1.org/Beacon25 (will be live Friday night 9/26)Pairs well with Gala Blog: https://curesyngap1.org/Gala25 Research is non-stop: - CRID, get one. https://curesyngap1.org/blog/every-syngap1-related-disorders-patient-needs-a-crid/ - ProMMiS, incredible coordination meeting today.  Sign up. https://curesyngap1.org/resources/studies/syngap1-ProMMiS/ - Sign up for Citizen Health too!  AI Advocate is live for us an awesome. https://www.citizen.health/partners/srfEpisode 183 of #Syngap10 #CureSYNGAP1#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Wednesday, September 10, 2025. Week 37.CAMP4 Press Release: https://www.linkedin.com/posts/caleb-moore-4382704_syngap1-activity-7371545171047628800-zVqRLet me tell you a story:EW Story, concern over viability of C4.Easy to follow financials, Mrkt Cap and Net assets of ~$40M.  Net income/EBITDA of -$12.6M in Q2.  Running Phase I / II trials and ramping up for Phase III, not cheap.  They need more than they had and capital is hard to get in this market.But here is the good part, the data is solid, the team is strong, and the SYNGAP1 Ecosystem is excited to have a first mover.SRF was thrilled to be invited, not just because we believe in C4, but because we wanted to send a meaningful signal to other investors that we are working closely with C4 and are eager to support their success.  I believe that our investment, while modest, sent that signal and helped this raise become oversubscribed.The board worked hard on this one.Now for hard questions:Are we conflicted? No.  We will transparently share info about all trials for products with good data.  ( See #S10e172 for ASGCT Data https://youtu.be/9xO1TcO1Eus ) Will other companies be upset?  Unlikely.  Stoke and Praxis are the only companies publicly working on SYNGAP1 that are close to this point and they are not worried about financial viability, but if they do want to do a raise for their SYNGAP1 program, they should certainly call us.What will other companies think? Indeed we are de-risking the disease by showing that our kids are modifiable with ASOs which are the majority of the therapies in scope.  This is a huge favor to others looking at this space.  Isn’t this taking a risk with our funds?  Depends.  But if it is, it’s a risk worth taking.  Remember we are the smallest investor, we only committed up to $1M, so other professional biotech investors put in $99M.What was the process?  C4 came to us, we decided it was worth talking to the board who had multiple discussions but we said yes in less than a week and that was last week.When is the trial? 2H26 Less than a year from now.  With this financing, I am sure of it.As I write this, the $CAMP stock closed up $0.80 or +40%.  Which is solid.  The market is starting to agree with the wise investors and SRF! Yes we need a cure. https://www.linkedin.com/posts/curesyngap1_savekramerdavis-activity-7371607032807763968-PVfGSee you Friday: Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25SOCIAL MATTERS- 4,311 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 1,430 YouTube.  https://www.youtube.com/@CureSYNGAP1   - 11,286 Twitter https://twitter.com/cureSYNGAP1 - 46k Insta https://www.instagram.com/curesyngap1/ Episode 182 of #Syngap10 #CureSYNGAP1#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Sunday, September 7, 2025. Week 37.Why does CURE SYNGAP1 aka SRF matter?  Do PAGS make a difference?Heck yes.1. Empower Families - Support.  Educate.  Activate.  Coordinate.2. Use Money Catalytically - Tax advantage.  Pool.  Manage.  Make Catalytic.  Focus.  Manage.3. Partner with Science & Medicine - Push forward.  Connect efforts.  Focus on Tx.  Work in Clinic.4. Leverage Ecosystem.  Industry.  PAGs.  Superpags (CB, GG, ELF).5. Ensure Continuity.  Our kids will outlast us.  Our energy wanes.  Life happens.  Cure SYNGAP1 never stops focusing on the biggest challenge in our lives: SRD.Because you VOLUNTEER Join us: https://curesyngap1.org/volunteer-with-srf/ Gala video: Look at those faces.https://www.youtube.com/watch?v=d6dCSBq27GcFriday: Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble📺 TV Interview! https://www.wspa.com/your-carolina/scramble-for-syngap-2/amp/Conference is in 88 Dayshttps://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/1. Register (97 done!) Need to register for the conference? Do that here: cureSYNGAP1.org/Reg252. Get a Room (Deadline 11/3 – Will sell out) Need a hotel room? Use our block here: cureSYNGAP1.org/GATech3. Get Friday Dinner Tickets we are going to AltaToro https://altatoro.com/ (20 already sold!) Register here: cureSYNGAP1.org/Din254. SHARE BLOOD TO THE SRF BIOBANK🩸https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow#Elopement (See #S10e178 https://www.youtube.com/watch?v=OiRnXxh0wfY)https://people.com/boy-rescued-from-hersheypark-monorail-is-on-the-autism-spectrum-says-rescuer-11802782https://www.facebook.com/NationalAutism/posts/pfbid02MqviB8pfYpm8QMw5ASqp9XMQY2MsL7mVcJSfeLmzsHLHBAt9bBDjfuqdg2awXAtsl 3rd Scientific Congress in Spanish Oct 11 virtual 9-1:30 ET, 8-12:30 in Colombiahttps://curesyngap1.org/calendar/tercer-congreso-cientifico-syngap1-en-espanol/Register at cureSYNGAP1.org/Congreso3SOCIAL MATTERS- 4,306 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 1,430 YouTube.  https://www.youtube.com/@CureSYNGAP1   - 11,286 Twitter https://twitter.com/cureSYNGAP1 - 46k Insta https://www.instagram.com/curesyngap1/ Join Citizen Health!  Last count we were at 275!https://www.citizen.health/partners/srfPubmed is at 42!https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc NEWLY DIAGNOSED?Next New Family Webinar - Tuesday Sept. 9th, 2025, 5 PM Pacific scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/Resourceshttps://curesyngap1.org/syngap1-resources-for-newly-diagnosed-familiesPodcasts, give all of these a five star review!https://cureSYNGAP1.org/SRFApple  https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 181 of #Syngap10 #CureSYNGAP1#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Friday, August 29th, 2025. Week 35.5th Annual Gala was a great success! cureSYNGAP1.org/Gala5Sad to miss it?  Join us in Boston or South Carolina. Deadline for Boston is 9/3 for tickets.Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/ScrambleSRF is active in Lisbon at #IEC2025 thank you KD, JA, VA!  Hi Dr. Knowles!We are at Booth #17 https://www.linkedin.com/posts/victoria-arteaga-26913433_syngap1-familyjourney-resilience-activity-7366951726001606657-6pcM #Bexicaserin News: New data from the PACIFIC Study, LP352-202, Open Label Extension (OLE) will be presented at the 36th International Epilepsy Congress (IEC) in Lisbon, Portugal (Aug 30 - Sept 3, 2025).The full results of the open label extension (OLE) of the Phase 1b/2a PACIFIC trial investigating bexicaserin for the treatment of patients with Developmental and Epileptic Encephalopathies (DEEs), will be presented for the first time at the International Epilepsy Annual CongressBexicaserin, which has been granted Breakthrough Therapy designation by the FDA, demonstrated reductions in countable and total motor seizure frequency in the extension study comparable to reductions seen in the Phase 1b/2a PACIFIC trial, reinforcing durability of response and validating its progression to Phase 3 trials.Additional data will be presented from the audiogenic seizure model and the GAERS absence epilepsy model, investigating sudden unexpected death in epilepsy (SUDEP), and seizure reduction respectively.During the OLE, a median reduction of 59.3% in countable motor seizure frequency was observed, with 55% of participants experiencing reductions of ≥50% compared to the baseline before the PACIFIC trial.This trial, EMERALD and other studies all at https://curesyngap1.org/resources/studies/See and comment on Vicky’s recent post on her 7 year SYNGAP1-iversary:https://www.linkedin.com/posts/victoria-arteaga-26913433_syngap1-familyjourney-resilience-activity-7366951726001606657-6pcM Join Citizen Health, we are at 275!  We should double that.https://www.citizen.health/partners/srfDSCIII Renewed to include SYNGAP1 alongside TSC, SHANK3 (aka PMD) and PTEN.  CFC Starts on 9/1https://curesyngap1.org/events/fundraisers/combined-federal-campaign-2025/🔥🌡️ Syngapians don’t like the heat.Conference is in 96 Dayshttps://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/Pubmed is at 39!https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=ascSHARE BLOOD TO THE SRF BIOBANK AT CB!https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/ VOLUNTEER Join us: https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS- 4,299 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 1,420 YouTube.  https://www.youtube.com/@CureSYNGAP1   - 11,298 Twitter https://twitter.com/cureSYNGAP1 - 46k Insta https://www.instagram.com/curesyngap1/  NEWLY DIAGNOSED?Next New Family Webinar - Tuesday Sept. 9th, 2025, 5 PM Pacific scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/Resourceshttps://curesyngap1.org/syngap1-resources-for-newly-diagnosed-familiesPodcasts, give all of these a five star review!https://cureSYNGAP1.org/SRFApple  https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 180 of #Syngap10 #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

GALA is now, #StokedAboutStoke, Go Grann, Our Villages, CHOP/NIH, More on Elopement.  #S10e179Friday, August 22nd, 2025. Week 34.The 5th Annual Gala is happening now! https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-galaforsyngap1-activity-7363593302312402944-W_TZcureSYNGAP1.org/Gala5Sad to miss it?  Join us in Boston or South Carolina.Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/ScrambleStoke Therapeutics indicates they will have a target for SYNGAP-1 in 2026!https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-reports-second-quarter-2025-financial-results12 Aug 2025 “Lead optimization is underway to identify a clinical candidate for the treatment of SYNGAP-1 in 2026. SYNGAP-1 is a severe and rare genetic neurodevelopmental disease.”Just over 20 FDA approved Oligos and siRNAs today.  We are still so early.https://www.advancingrna.com/doc/moving-beyond-solid-phase-synthesis-the-momentum-of-oligonucleotide-manufacturing-0001Congrats to Monica E. & Grann Therapeutics, seeing a child dosed for the first time with a novel medicine was remarkable.https://www.grannpharma.com/press-releases The SYNGAP1 Village: How Extended Family Can Provide Vital Supporthttps://curesyngap1.org/blog/syngap1-village-extended-family-can-provide-support/Here’s a fun topic to discuss with your family, brain donation.  https://www.autismbrainnet.org/55yo with Dravet, lots of insights, Brava to Dr. Andrade and team! https://onlinelibrary.wiley.com/doi/10.1111/epi.18613SRF joins with CHOP, Wistar and other Philly-area research institutions with a letter to urge legislators to reject NIH cuts.8/20/25 Letter can be viewed in SRF Public-facing drive https://drive.google.com/file/d/1HHmCAuRYAQxb_1DtMtkQTz3H8__g9zKq/view?usp=drive_linkPhiladelphia Inquirer picked up the story 8/20/25 https://www.inquirer.com/health/medical-research-institutions-reject-nih-cuts-20250820.html More on #Elopement: Alarms, Roofs, Resonated.  Keep talking to doctors about this.  Post is up to 139 Votes, percentages little changed,  join the conversation on FB. https://www.facebook.com/groups/syngap/posts/1734514154096968/#S10e178 - https://www.youtube.com/watch?v=OiRnXxh0wfY Conference is in 103 Dayshttps://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/Pubmed is at 38!https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=ascSHARE BLOOD TO THE SRF BIOBANK AT CB!https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/ VOLUNTEER Join us: https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS- 4,285 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 1,420 YouTube.  https://www.youtube.com/@CureSYNGAP1   - 11,294 Twitter https://twitter.com/cureSYNGAP1 - 46k Insta https://www.instagram.com/curesyngap1/  NEWLY DIAGNOSED?Next New Family Webinar - Tuesday Sept. 9th, 2025, 5 PM Pacific scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/Resourceshttps://curesyngap1.org/syngap1-resources-for-newly-diagnosed-familiesPodcasts, give all of these a five star review!https://cureSYNGAP1.org/SRFApple  https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 179 of #Syngap10 #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Tony (11, M) Story.  Now we sleep with the alarm on every night.Elopement: involves leaving a safe or supervised area without permission.poses a risk to the individual's safety.can occur in various settings.is a common behavior in individuals with ASD.Virginie (10, M) Stories and Service Dog.Single Mom (9, M) heading to the judge and calls me asking for papers.  Here you go…Let’s note that Elopement was masked behind broader buckets and I think this is a miss.  We need to name and discuss this very challenging behavior.FB Survey.  4 hours.  100+ votes, 100 comments.   https://www.facebook.com/groups/syngap/posts/1734514154096968/76% of respondents eloped (35% F, 41% M)24% didn’t (17% F, 7% M)11 F, no elopement at home - but sometimes tries to elope while at school.C ( has always been an eloper - kid has a sixth sense for when someone leaves the door unlocked C elopes and age 16 years oldH 9 girl constantly running awayB-7.5 years oldGirl - 3Fourteen. She doesn't anymore, but used to. Not to the degree that other families struggle, but we definitely had to keep an extra close eye/ear. Had bells on all our doors, etc. Did get a call from our neighbor once while I was making dinner saying that S had just walked into her house, that she was safe, and was helping to give their baby a bath. Thankfully they were very good friends and took it in stride. (S was about four at the time.)Boys age 7. He has for awhileBoy, age 8.5. Just started eloping more so recently, in the last year.11, girlBoy age 1513 year old girlGirl-3Ty 10 elopes since he can walk. It’s our biggest problem.Boy age 8 but has been doing it for a whileAge 7, girl.Boy - 14y/oBoy age 9… he’s a track star! Boy age 12, has eloped since he could walk/run. It probably peaked around age 6 and got better with meds. Elopement is less frequent now but scarier now that he’s older and higher.Boy 10. Always has wandered and will still now run off knowing he’s not suppose toAny chance he gets 13My boy (22 y/o) always was and is now a master of escape, he can hear if I turn the key in the door, front door has an alarm fitted just in caseBoy , 25 the risk is high because he looks typical25 yo female, requiring alarms, cameras,and specialized door locks.  In a state that says that these measures are unlawful restraint and invasion of privacyFrazier, 2025. Extremely High finding as a Symptom of SYNGAP1.  See Table 2 of Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disordershttps://onlinelibrary.wiley.com/doi/10.1111/dmcn.16112McKee, 2025.  Notes the significantly heightened enrichment of Autistic Behavior and Behavioral Abnormality vs. Rett, Angelman or Epilepsy cohorts.  See Figure 2B of Clinical signatures of SYNGAP1-related disorders through data integration.https://www.gimjournal.org/article/S1098-3600(25)00066-8/abstractCunnanne, notes impulsivity (which is a euphemism for elopement if I have ever heard one) and has three quotes in Table 1 (see below), but also notes in Figure 2 that both ASD and lack of danger awareness came up in almost every interview.  See SYNGAP1-Related Intellectual Disability: Meaningful Clinical Outcomes and Development of a Disease Concept Model Draft.  https://papers.ssrn.com/sol3/papers.cfm?abstract_id=5098346Impulsivity quotes:Runs toward streets - “He wouldn't stop himself from running into the road. He climbs things in that house that you'relike‘oh my god, how are you going to get out of that?’”Jumps into pools - “He would walk into a pond. We were at the pool the other day…and hejust walked off the edge and just fell into the water and was like… he would have just drowned.”Runs toward crowds - “She was a bolter. So that was always scary...Episode 178 of #Syngap10 #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Friday, August 8th, 2025. Week 32.CURE SYNGAP1 aka SRF is getting more complex daily, and this is a good thing.Today: Event planning, DCM Advising, Patient Advocacy Connecting, Infrastructure building, Conference Preparation.DCM - Cunnane: https://pubmed.ncbi.nlm.nih.gov/40494056/ Blog on DCM: https://epilepsygenetics.blog/2025/06/20/revisiting-syngap1-through-a-disease-concept-model/ My comments at the 2024 Conference:curesyngap1.org/resources/webinars/webinar-103-m-syngap1-conference-family-day-2024-whats-next/ PRESSNeuren on #NNZ2591 https://www.linkedin.com/posts/curesyngap1_neuren-adds-syngap1related-disorder-to-nnz2591-activity-7359712115668013057-2-HX CAMP4 in IPMhttps://www.linkedin.com/posts/camp4-therapeutics_in-conversation-with-josh-mandel-brehm-ceo-activity-7359584335202541570-X-MXFUNDRAISING3 events in 3 states… https://mailchi.mp/curesyngap1.org/3-events-1-mission-support-syngap1-families-this-fall?e=e95ed9a1c4 Gala for SYNGAP1 August 22, 2025 - Farmingdale, NJ cureSYNGAP1.org/Gala5Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/ScrambleAlso, Conference is in 117 Dayshttps://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/STUDIES - MATTERhttps://docs.google.com/presentation/d/1yRPHMRY3pXPgbOacDM9Sr906VejdJWsonUWvqRD9VVI/edit?usp=sharing Pubmed is at 32 (One a week!)https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=ascSHARE BLOOD TO THE SRF BIOBANK AT CB!Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/ VOLUNTEER Join us: https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS- 4,265 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 1,410 YouTube.  https://www.youtube.com/@CureSYNGAP1   - 11,304 Twitter https://twitter.com/cureSYNGAP1 - 46k Insta https://www.instagram.com/curesyngap1/  NEWLY DIAGNOSED?Next New Family Webinar - Tuesday Sept. 9th, 2025, 5 PM Pacific scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/Resourceshttps://curesyngap1.org/syngap1-resources-for-newly-diagnosed-familiesPodcasts, give all of these a five star review!https://cureSYNGAP1.org/SRFApple  https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 177 of #Syngap10 #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Wed July 30, 2025Audience: Any family with a DEE who has a kid who has seizures, yes SYNGAP1 is a DEE and you are always my first audience.See #S10e133 if you are curious about DEE vs other names. https://curesyngap1.org/podcasts/syngap10/what-is-this-syngap1-illness-disease-syndrome-ndd-dee-mrd5-nsid-actually-called-s10e133/Action: If your kid has motor seizures, fill out the screener and join this amazing study.Link here: https://www.resiliencestudies.com/emeraldA motor seizure is a seizure where you can see something moving – including head drops, drops, convulsive, etc. – only excluded seizures are absence, myoclonia and infantile spasms.  You don’t need to figure this out, just fill in the screener, let the doctors figure it out.Questions: Come to live webinar tomorrow, it will not be recorded, so you have to come register here:https://curesyngap1.org/resources/webinars/webinar-111-introduction-to-praxiss-emerald-study-for-syngap1-patients/TRIAL.Any DEE patient with 4 motor seizures a month, minimum.Age 2-65.  Adults are you listening?24 weeks (6 months) weeks, placebo controlled but everyone will get drug at some point in the trial.28 weeks (7 months) week OLE, with a chance for expanded access, so if it works, you can stay on.Fully decentralized, you don’t have to go to a site if you don’t want to.One US site open so far in Bethesda, there will be others.  Int’l sites in 2026.  US ENROLLING NOW.DRUG.Lots of science and big words in the links below, but here is what you need to know as a parent.1. It’s a liquid, can go oral or in a g-tube.2. There is no ramp up, you put it in and it works.  In terms of speed, think Lorazepam not Lamotrigine.3. It’s potent and specific, which means small volume.  Roughly 1ml for 10 kg.  This will be a rounding error in the face of a normal SynGAPian med regime.4. Even though this is a sodium channel drug, it should benefit all DEEs b/c, good to clarify tomorrow, all seizures end with a hyperactive sodium channel firing and that is what Relutragine focuses on.PRAXIS.Serious people, lots of work on Epilepsy.  Connected to SYNGAP1 and DEEs, just need to move faster on SYNGAP1 ASO!1. CSO is Steve Petrou, works with SRF AUS and knows they are waiting.2. KD and AN started a company for SCN2A and it was absorbed by Praxis, they are still there and are relentless.3. Work on both small molecules and ASO, this is a way for them to see our team in action.Cool links:AES 2024 Story. https://eppro01.ativ.me/web/page.php?page=session&project=AES24&id=2894147Embold read out: https://www.neurologylive.com/view/relutrigine-shows-promise-phase-2-embold-study-scn2a-dee-scn8a-deeFDA Breakthrough. https://www.globenewswire.com/news-release/2025/07/17/3117145/0/en/Praxis-Precision-Medicines-Receives-FDA-Breakthrough-Therapy-Designation-for-Relutrigine-for-the-Treatment-of-Seizures-Associated-with-SCN2A-and-SCN8A-Developmental-and-Epileptic-E.htmlMore links. https://delta.larvol.com/Products/?ProductId=05ccb036-a308-4249-abf6-e03b120839daWhy am I doing this?1. We need better meds and the way to meds is through trials.2. We need to jump at every trial, every time.3. This one is decentralized, so minimum burden.4. If you get in now, this will be over before it’s ASO trial time, so you could do both.5. Our Syngapians with motor seizures tend to be our most severe, we have to make sure we find out if this drug can help.  All our kids may progress to this point.See you at the webinar, fill out the screener now: https://www.resiliencestudies.com/emerald

July 16, 2025. Week 29.What is a natural history study (NHS)?  And why do we care?We care because we haven’t done this before, heal those born with disease.Natural history studies, which examine the progression of a disease over time, can be either retrospective or prospective. Retrospective studies analyze existing data, like medical records, while prospective studies collect new data over time. Both types are valuable for understanding a disease's course and informing research and treatment strategies.⁠NHS are critical for clinical trial design.  Size and Quality matter.  Validated scales are better than PROs regardless of what the current rhetoric is.What’s going on now?USA - https://curesyngap1.org/resources/studies/syngap1-ProMMiS/ - 135+ over three sites, some with FOUR visits, and counting - Adding GCP - Collaborating with world class institutions and excellent clinicians at Stanford, Children’s Colorado and, of course, CHOP.USA - https://Citizen.Health/partners/srf has almost 300 patients! Retrospective Health Data.USA - https://rare-x.org/syngap1/ is where we collect PROs.Australia - Dr. Sheffer is running a study, talk to her or Dani.Latin America - SYNGAP1 Argentina with others joining.Europe - https://www.patre.info/syngap1/ Key takeaways for IndustrySYNGAP1 is well positioned to work with… Vlasskamp and Wiltrout are published, Citizen Health is growing & ProMMiS is truly exceptional – and growing, and Rare-X is collecting eight key PROs.   Additionally, there are significant international efforts in Australia, Latin America & Europe.Census: https://curesyngap1.org/blog/syngap1-census-2025-update-55-in-q2-2025-total-1636/ If you are in industry and thinking about starting another NHS for your asset, please don't.  Please instead partner with existing PAGs and NHS studies in your key geographies to move faster, have bigger N and not waste precious patients time, we need to accelerate drug development not slow it down by diluting patients and clinicians between too many studies.Baseline papers on SYNGAP1:1998 - Huganir - SynGAP: a synaptic RasGAP that associates with the PSD-95/SAP90 protein family - https://pubmed.ncbi.nlm.nih.gov/9581761/2009 - Michaud - Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation - https://pubmed.ncbi.nlm.nih.gov/19196676/2013 - Carvill - Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 - https://pubmed.ncbi.nlm.nih.gov/23708187/2019 - Vlasskamp - SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy - https://pubmed.ncbi.nlm.nih.gov/30541864/2023 - Rong - Adult Phenotype of SYNGAP1-DEE - https://pubmed.ncbi.nlm.nih.gov/38045990/2024 - Wiltrout - Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism - https://pubmed.ncbi.nlm.nih.gov/38470175/Pubmed is at 28 (so less than one a week…)https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=ascCURE SYNGAP1 CONNECThttps://curesyngap1.org/curesyngap1connect/SHARE BLOOD TO THE SRF BIOBANK AT CB!Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/ VOLUNTEER Join us: https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS- 4,238 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 1,400 followers with 575 Videos on YouTube.  https://www.youtube.com/@CureSYNGAP1   - 11,302 Twitter https://twitter.com/cureSYNGAP1 - 46k Insta https://www.instagram.com/curesyngap1/  NEWLY DIAGNOSED?New families have resources here! https://syngap.fund/Resources   Podcasts, give all of these a five star review!https://cureSYNGAP1.org/SRFApple  https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 175 of #Syngap10 #RareDisease #PatientAdvocacy #SYNGAP1 #SynGAP #ProMMiS

July 7, 2025 Week 28ADAMS CAMPhttps://curesyngap1.org/podcasts/syngap10/adams-camp-is-amazing-so-are-compression-vests-s10e110/ CENSUS & WHY WE WILL SEE MORE PATIENTSAAP recommends Whole Exome as a first line test for GDD/ID.https://www.linkedin.com/posts/ambry-genetics_exome-cns-patientforlife-activity-7343354049586466816-Jbq_SYNGAP1 Census 2Q25 +55; new total 1,636, but we need to look at country by country to appreciate how low that is. https://curesyngap1.org/census/https://docs.google.com/spreadsheets/d/1oJwMysR2wyTxe91zLlKJglNa0NySPxkBF0PRiV6mBmM/edit?gid=0#gid=0First patients from Bulgaria, Pakistan, Paraguay, and Uruguay.  US, Germany & France growing but UK standing still?WARRIORS & PARENT STORIES https://curesyngap1.org/syngap-warriors/Charlotte - Charlotte is 18 months old - diagnosed on May, 2025, just over a month ago. Already been to UNC and planning to go to CHOP.  17I thought it was worth noting the fast action this family is taking.Martina - First patient from Uruguay. SYNGAP1 Stories episode 35 Nicole Ciccone, son Jackson (from Georgia, near Atlanta) cureSYNGAP1.org/StoriesIMPORTANT SRF POSTSWebinar #108 - Repurposing opportunity for SYNGAP1 Specific nonsense mutations with Dr Bruce Bloom, Founder of Fortuity Pharma is up https://curesyngap1.org/resources/webinars/webinar-108-fortuity-pharma-repurposing-nonsense-mutations/VOLUNTEER SHOUT OUTSuzanne Vreeland Jones for helping get the resource mobilization group organized in general and attending so many meetings, applying for grants, organizing the drive, and creating a fundraising plan for the rest of the year. And just generally caring about what’s going on and what needs to get done. She’s also the board chair and organizes all of that every 6 weeks. Then there’s so much she’s done and is doing for the conference so far as it is in Atlanta. We can trust it will be a nice event with her helping and being so close.CONFERENCE - DECEMBER 4th & 5thHotel has been selected for Atlanta - Georgia Tech Hotel & Conference Center; see cureSYNGAP1.org/Atlanta FUNDRAISING - SIBLINGS ARE THE NEXT GEN OF SRFFundraiser - LOVING ON LIAM - Emma's Hope for a SYNGAP1 Cure; fundraiser by Liam's sister Emma, who is promising a handmade pin for $5+ donations and over $100 a front flip off the diving board - cureSYNGAP1.org/Liam raised $2,370 in June!WEBINAR#108 - Repurposing opportunity for SYNGAP1 nonsense mutations with Dr Bruce E. Bloom from Fortuity Pharma is up on YouTube https://youtu.be/4nqCLwuikIE?si=xWtbw-5OP_uMBwK5 and our website cureSYNGAP1.org/WebinarsPRESS RELEASEhttps://curesyngap1.org/blog/prof-kristian-stromgaard-awarded-cure-syngap1-grant-research-biomolecular-condensates-pr40/ WHY OUR RESEARCH MATTERSBowie Lab Talk on Glutamatergic Neurons.  We learn about Intelligence from studying ID.https://www.youtube.com/watch?v=sfcN2BuZOJwNUMBERSPUBMED 334, 26, so -1 vs. weeks.Follow on Youtube and LinkedIn, they matter.https://www.linkedin.com/company/curesyngap1/ 4,221https://www.youtube.com/@CureSYNGAP1 1,390#S10e173 CORRECTIONI credited the Sprint blog to "probably Ed". Thanks, but that one was coordinated by Jo Ashline.NICOLE’S POSTI hate Autism Awareness Month. It stirs up so many emotions- anger, grief, and frustration for everything autism has taken from my son.Dear Syngap,It’s me again. You’d think after all this time, we’d have some kind of understanding. But we don’t. We never will. You barged into our lives uninvited, turned our world upside down, and refused to leave. You’ve taught me lessons I never asked for, dragged us down roads we never wanted to travel. You’ve humbled me, broken me, enraged me......

It’s been a month, in that time we’ve had a few important webinars, published lots of wonderful content & attended BIO in Boston this week. Thank you Virginie for going to BIOhttps://www.linkedin.com/posts/virginie-mcnamar_bio2025-theworldcantwait-raredisease-activity-7341849619028430848-I_FD Ambry was awesome https://www.linkedin.com/posts/graglia_syngap1-ambryknowsgenes-activity-7336183874890231809-Beua CURE SYNGAP1 CONNECThttps://curesyngap1.org/curesyngap1connect/CAMP4 Update - Hear it from them, in our US or EU Webinar. US https://curesyngap1.org/resources/webinars/106-srf-us-know-about-asos-before-syngap1-clinical-trials-camp4-case-study/ EU https://curesyngap1.org/resources/webinars/107-srf-eu-know-about-asos-before-syngap1-clinical-trials-camp4-case-study/Amlexanox and Cool Science Amlexanox (Repurposed Readthrough Drug) https://curesyngap1.org/resources/webinars/webinar-108-fortuity-pharma-repurposing-nonsense-mutations/ Cool Science https://curesyngap1.org/resources/webinars/webinar-109-linking-syngap1-and-human-specific-genes-srgap2b-c-that-control-the-tempo-of-synaptic-development/Inaugural New Family WebinarSaturday June 28th, 2025, 9 AM Pacific https://curesyngap1.org/resources/webinars/syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/ Tuesday Sept. 9th, 2025, 5 PM Pacific also already scheduled!https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/STUDIES - MATTER ORTAS (need many, 27 signed up, 8 completed.)https://curesyngap1.org/resources/studies/ortas-observer-reported-toileting-abilities-survey/ BEACON (need 7) https://curesyngap1.org/resources/webinars/98-dreem-eeg-headband-to-assess-sleep-eeg-biomarkers-in-syngap1/“Dear Families,This is a brief update on the Communication abilities in Children with Genetic Conditions study.The Communication abilities in Children with Genetic Conditions study collected parent-reported data on communication ability from 113 families and direct speech and language data from 33 children. Data collection has now closed and research reports are in preparation for the three most successfully recruited conditions; KBG syndrome, SYNGAP1-related disorder, and differences in MED13L. While the study was initially open to a wider group of single-gene conditions, it was only possible to recruit full data sets and large enough samples to produce high quality research reports for these three conditions. While not all of the data collected from families will be included in the research publications, all of the data provided by families has been extremely valuable to the study. Where permission has been given, anonymised data will serve as valuable pilot data to support future funding applications for research on relevant gene conditions.We thank all families for their valued time and participation in the project. Further updates will share our research reports as they become available.With best wishes,Harriet and the Communication abilities in Children with Genetic Conditions study team.” PRESS JJ in MD https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-activity-7331703029949267969-7AeK/ Stories #34 with Jo Ashline https://curesyngap1.org/podcasts/syngap1-stories/ Warriors Santiago, Axel and Issac! https://curesyngap1.org/syngap-warriors/ Cafe SYNGAP1 with Dina from NY https://curesyngap1.org/podcasts/cafe-syngap1/dina/ NL45 https://mailchi.mp/curesyngap1.org/make-a-splash-for-syngap1-awareness-45FUNDRAISINGSprint Blog is Epic https://curesyngap1.org/blog/sprint4syngap-raises-over-200k-for-syngap1-in-5th-annual-fundraiser/MDBR just happened Four team members raised $15,795 so far. Thanks to Heather Mestemaker, Justin Albrecht, Aaron Harding, and Alicia Harrison. https://cureSYNGAP1.org/MDBRHarper $5k match! https://donate.curesyngap1.org/campaign/694764/donateLiam https://donate.curesyngap1.org/campaign/696438/donateStory https://donate.curesyngap1.org/campaign/695981/donate.....

Sunday May 18, 2025. Week 21Show notes on the site: https://curesyngap1.org/podcasts/syngap10/ CAMP4Press Release https://investors.camp4tx.com/news-releases/news-release-details/camp4-presents-translational-data-syngap1-related-disordersDr. Yuri at WODC: https://www.youtube.com/watch?v=oNwgo7TmrVoPresentation at ASGCT: https://investors.camp4tx.com/news-events/presentationsGETA Talk: https://www.facebook.com/Syngapresearch/posts/pfbid08Aztex32vdwNZduVkPQeG353W49Dhq8iKJeZEkajKUmkeUiDdCwzyqa9ndEVpdCUl To get these Therapies to kids the NHS data is key, ProMMisCHOP - Email them [email protected] (Singed!) - https://curesyngap1.org/blog/srf-announces-stanford-launches-california-synaptopathy-clinic/CHCO - https://curesyngap1.org/blog/visiting-syngap1-natural-history-study-childrens-hospital-colorado-chco/Citizen Healthhttps://cureSYNGAP1.org/Citizen is at 267, why not 300?Hopkins article featuring SRF - Competition is good for the patientFB https://www.facebook.com/cureSYNGAP1/posts/pfbid07MP7St3zdxLKYXTJULKa5S35YvgL6AJndenHicedxU3rtQF6iY1wwwNUoDuUD9cplLIhttps://www.linkedin.com/posts/curesyngap1_nih-cuts-stalling-progress-on-rare-genetic-activity-7328449817074946048-AAsBASGCTMouse poster for Q504X from the JAX, Dr. Matt SimonConf Video https://www.youtube.com/watch?v=loYXkkTSUIY Presentation on AAV for SYNGAP1 at Allen by Dr. Megan QuinlanWhat about this guy?Gift link: https://www.nytimes.com/2025/05/15/health/gene-editing-personalized-rare-disorders.html?unlocked_article_code=1.H08.E-oX.t5bo6kxJGUOU&smid=url-share PBS: https://www.youtube.com/watch?v=dOeiPoa3gvMEric Topol: https://erictopol.substack.com/p/the-first-human-to-undergo-in-vivoMore incredible newshttps://news.unl.edu/article/husker-team-wins-second-round-prize-in-nih-gene-editing-challengeREPURPOSINGMike’s post in private SRF Group: https://www.facebook.com/groups/syngap#Amlexanox with Fortuity Pharma. https://fortuitypharma.com/ Butyrate Updatehttps://aesnet.org/abstractslisting/phenylbutyrate-for-syngap1-related-developmental-and-epileptic-encephalopathyTrial ending at year end, working with SLC6A1 and Rachel Heilmann to continue coverage, then we can scale, once we have a paper.SunButyrate https://a.co/d/7kiHXS8 PUBMED 328 total with 20 YTDhttps://pubmed.ncbi.nlm.nih.gov/?term=syngap1&sort=date&sort_order=asc&timeline=expandedSleep https://www.sciencedirect.com/science/article/abs/pii/S1389945724005793?via%3DihubSRF FundraisersMDBR with AJH and HM https://curesyngap1.org/calendar/million-dollar-bike-ride-2025/Well done to Tavilla and Jones!  We are over $221kTavilla clears $160k for Sprint.https://donate.curesyngap1.org/campaign/sprint4syngap2025/c660255Porter Jones and his friends William, Patrick, and Judson raised over $10k in doughnuts, this netted over $8k because people donated.  Amazing and thank you to Krispy Kreme. https://donate.curesyngap1.org/event/sweets-for-syngap1/e678677SRF PROFILESVicky post in Mexico https://www.linkedin.com/posts/victoria-arteaga-26913433_diagnostico-epilepsia-syngap1-activity-7329725268003069953-R41PVicky’s Siblings Violeta and Lourdes, sisters to Amelia https://curesyngap1.org/syngap-siblings/Harper Albrecht Wednesday Warrior #215 parents Ashley and Justin https://cureSYNGAP1.org/WarriorPREREGISTER FOR THE CURE SYNGAP1 CONFERENCEhttps://curesyngap1.org/calendar/cure-syngap1-conference-2025-hosted-by-srf/

Email: [email protected] about this study!Languages: English, Spanish, Portuguese and Dutch across the sites in Canada and Netherlands.All our kids will turn into adults and if you think people don’t understand our kids, wait till they turn into adults!  It’s worse.  There are less doctors who think in terms of genetic etiology (cause), which makes the literature so much more important.  BTW, soon we will have treated and untreated!  Dr. Andrade and her team are the best in the world.  Dravet/SCN1A is “the one”Dr. Andrade has written multiple papers on Dravet and is the world leading expert on monogenic NDDs in adults…https://pubmed.ncbi.nlm.nih.gov/33677403/https://pubmed.ncbi.nlm.nih.gov/28186331/https://pubmed.ncbi.nlm.nih.gov/22780858/She’s even looking around corners… https://pubmed.ncbi.nlm.nih.gov/40034086/We have already been given a remarkable paper on SYNGAP1 in adults, but with a very low N=14: https://pubmed.ncbi.nlm.nih.gov/38045990/.  Dr. A presented the related data at SRF Conf 2022. https://youtu.be/mRlCA816Af8CHD2 has one now as well: https://pubmed.ncbi.nlm.nih.gov/39601014/So there are 9,997 other genes of which at most 100 have decent PAGs which all would love Dr. Andrade and her team to do the same.  So… this is our moment.Please let us know how we can help you to finish these questionnaires: [email protected] Thursday, May 1, 2025 #RareDisease #AdultPhenotype #AndradeRocks #SYNGAP1 #SynGAP #French #Portuguese #Spanish #Dutch #English #Brazil #UK #Canada

Friday, April 25, 2025 - DNA DayGood luck at Sprint tomorrow.  $194k at this moment.WODC ReadoutSaw friends (Hebbian Bio, Unravel, Ana M, Balaji) and families (HM AN E)RH Drug talk - https://youtu.be/Hpj72nMFfZc?si=dLVdeRNhVLfjCSar. (Other  Family Day Presentations from SYNGAP1 Conference in LA are on YouTube https://www.youtube.com/playlist?list=PLjpr3a14_ls2ummdbWyUdvRpMcQBlRXy2)Read out in a panel where we had to really talk through small molecule (broad - LB) vs precision (narrow C4/STK) and broad (Tevard). ASO Update: Trials need heterogenous populations.  At first, I expect we will be looking for PTVs beyond the first 3 or 4 exons.  Once approved, or in subsequent trials, I assume it will be available more broadly but not at first.  Trials are coming, take notes and videos.Press Release on Roadmap: https://www.linkedin.com/posts/graglia_progress-in-syngap1-therapeutic-development-activity-7321668845495066624-1dDnOliver's Warrior Story - https://curesyngap1.org/syngap-warriors/oliver/Sign up for the conference: 222 Days!https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/Impact Report Webinar can be watched in its entirety as well as in segments - 18 of them to cover most of the topics discussed are being added to our YT channel at https://www.youtube.com/playlist?list=PLjpr3a14_ls3OvtdFahBr4wAa8BL7aUkvEffie on TJBhttps://www.linkedin.com/posts/graglia_well-deserved-kudos-for-dr-terry-jo-bichell-activity-7321280877068541952-9f_1CB Blood Drive this weekend in TN.  Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/Newly Diagnosed Resources: https://cureSYNGAP1.org/Resources

Tuesday, April 15, 2025 – Week 16CURRENT NEWS#Sprint4Syngap 2025 is in eleven days! Start or join a team and fundraise!https://curesyngap1.org/sprint25 look at these faces, $167,979 of which $145k+ fromTavillas! Board Announcement: https://www.eurekalert.org/news-releases/1080490LEARNING ABOUT SYNGAP1ProMMiS NHS Webinar from Dr. McKee: https://youtu.be/zozwf1NDB5I we were waiting for this great paper: https://www.sciencedirect.com/science/article/abs/pii/S1098360025000668 which I discussed in #S10e167.Also, learn from Dr. Knowles, Apple Pod: https://podcasts.apple.com/us/podcast/stanford-medcast/id1529672674YT https://youtu.be/VBWa0FklYJsCatatonia, watch these when you can: https://www.linkedin.com/posts/activity-7316937356194844672-PoUi/Please ask me your ASO Questions - https://www.youtube.com/watch?v=1I0sRVZTY-A  For instance, these won't repair, but they will will upregulate... = make work harder.MORE NEWSIn #S10e168 I talked about Drs Bowie & Willsey, this week I can applaud Postilla!https://www.linkedin.com/posts/inflames-research-flagship_making-sense-of-missense-in-a-rare-children-activity-7316376546833833986--Qoc/SIBLINGSTell your story, please for the other ones.https://curesyngap1.org/syngap-siblings/shanaye-worth/https://curesyngap1.org/sibling-support/PUBLICATION COUNTPubMed is at 17 YTD, 325 in total (trending to 52+, but I’m not as confident)https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&timeline=expanded&sort=date&sort_order=ascSHARE BLOOD TO THE SRF BIOBANK AT CB!Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/VOLUNTEER Join us: https://curesyngap1.org/volunteer-with-srf/SOCIAL MATTERS- 4,009 LinkedIn.  https://www.linkedin.com/company/curesyngap1/- 1,334 YouTube.  https://www.youtube.com/@CureSYNGAP1 - 11,369 Twitter https://twitter.com/cureSYNGAP1- 46k Insta https://www.instagram.com/curesyngap1/ NEWLY DIAGNOSED?New families have resources here! https://syngap.fund/Resources Podcasts, give all of these a five star review!https://cureSYNGAP1.org/SRFApple https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 169 of #Syngap10 #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS