CURE SYNGAP1 PODCAST aka SYNGAP10

INCREDIBLE MEETING, THANK YOU GC FOR THE HOSPITALITY! https://www.linkedin.com/feed/update/urn:li:activity:6982842796319657984 https://www.forbes.com/sites/greglicholai/2022/10/03/renaissance-in-precision-neuroscience-expected/?sh=61d48fa0c8a3   GRANT ALERT Coller mRNA Work at Hopkins https://www.eurekalert.org/news-releases/966873 COMPANY UPDATE Stoke Tx https://www.stoketherapeutics.com/ Praxis Medicine https://praxismedicines.com/ Rarebase https://www.rarebase.org/ Beacon Biosignals https://beacon.bio/ Jaxon Labs - 2 Mice in Progress. https://secure.givelively.org/donate/syngap-research-fund-incorporated/patient-derived-mice-models-at-jax Ionis - See Prosser Webinar! (Webinar 63) https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides https://www.syngapresearchfund.org/post/unite-to-bike-syngap-research-fund-rides-in-person-at-the-million-dollar-bike-ride Tevard https://tevard.com/ EVERY PATIENT MATTERS Census is now at 1,135 Patients.  https://www.syngapresearchfund.org/post/123-syngapcensus-2022-update-37-in-q3-2022 https://twitter.com/cureSYNGAP1/status/1576246751974944768 GLOBAL FILE SRF Site is now in all Languages! Colombia/LatAmerica 🇨🇴- Vicky is amazing hosting a dinner at https://simposio.acmgen.org/ see - https://twitter.com/JMGraglia/status/1577319370081980416 - https://www.linkedin.com/posts/graglia_syngap1-activity-6983238494441672704-4ihv  EVENTS ARE COMING NEXT WEEK on October 8th! New Jersey - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala  South Carolina - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap News Report: https://www.youtube.com/watch?v=a7sBTkL5KLo   2 Weeks: October 12-15 in OH - Child Neurology Society 3 Weeks: October 21 #UFDcure Cannonball 2.0 https://www.syngapresearchfund.org/cannonball #CannonballForTheCure #RareBase NOVEMBER IS GIVING SEASON! 6 Weeks: November 12 in GA - Sparks of Hope Gala https://cbo.io/bidapp/index.php?slug=syngap November 14-15 in MA - PMC summit titled Personalized Medicine and the Patient 8 Weeks: December 1 in TN - Syngap Science Meeting - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path  etc. This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast  Apple podcasts: https://syngap.fund/10a Episode 77 of Syngap10 - October 4, 2022  #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

Rarebase (explained) and also, they helped us find another another family.  Here is the press release: https://www.rarebase.org/post/rarebase-launches-a-neuroscience-drug-discovery-platform-collaborating-with-15-rare-disease-patient-organizations #FUNCTION #RareBase Cannonball 18 DAYS did you see this article? https://thealmanac.net/news/upper-st-clair-resident-plans-to-livestream-cross-country-ride-for-charity/article_09570da8-119f-11ec-b1a1-fbe2d9f2526a.html 3 dads driving across :us: and focusing on endurance, can you sponsor? https://www.syngapresearchfund.org/cannonball #UFDcure Billy shoes: 10% off with https://Syngap.Fund/Billy watch our interview at https://youtu.be/mAz1PT_JziE  Company conversations: Q-State Pipeline Reminder, we are here to clear the path for whomever wins, we don't care who wins we want this race to be won. Have you bought your tickets to the Gala yet? 35 DAYS! https://www.syngapresearchfund.org/gala  San Filippo has a 10 min podcast and we love it.  Honestly, it's been a great way to connect and I urge everyone to try it out.  This was episode 27 of #Syngap10 - September 17th, 2021 #SYNGAP1 #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAP #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics #epilepsy #autism #geneticcounseling #raredisease #Podcast #SYNGAP10 

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.70063   Doing 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=YFHYH7T7LTPAL44X   Newsletter #47 https://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 Ghorayshi Split 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-her   Tylenol: https://www.nytimes.com/video/science/100000010414944/trump-pushes-unproven-link-between-tylenol-and-autism.html   Sign up for Citizen Health: https://www.citizen.health/partners/srf   CURE 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=dale0NbxDpU   SOCIALS 4,417 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 Health https://www.citizen.health/partners/srf   CC/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 Dravet https://www.tandfonline.com/doi/full/10.1080/14737175.2025.2562118   Citizen 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-cBFE CF 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:NASDAQ   CIRM 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.A1 e185 https://www.youtube.com/watch?v=dale0NbxDpU   SOCIALS 4,381 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ 1,450 YouTube.  https://www.youtube.com/@CureSYNGAP1 11k Twitter https://twitter.com/cureSYNGAP1 45k 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.A1 Blog: 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=tZ5s5rQawXg Read the case study: https://everylifefoundation.org/icd-code-roadmap/#toggle-id-13 Hear from other leaders: https://effieparks.com/podcast/episode-224-the-complicated-world-of-icd10-codes-with-ceo-and-co-founder-of-slc6a1-connect-amber-freed   Why 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-dQS0   Preprint: https://www.medrxiv.org/content/10.1101/2025.09.12.25335652v1.full.pdf   TABLE 1. List of monogenic epilepsies with a syndrome-specific ICD-10 code, associated genes, and code implementation dates. Syndrome ICD-10 Code Gene Effective Date21 Rett syndrome F84.2 MECP2 10/01/2015 Glucose transporter protein type 1 deficiency syndrome (GLUT1-DS) E74.810 SLC2A1 10/01/2020 Cyclin-dependent kinase-like 5 deficiency disorder (CDD) G40.42 CDKL5 10/01/2020 Dravet syndrome G40.83 SCN1A 10/01/2020 SYNGAP1-related intellectual disability (SYNGAP1-ID) SYNGAP1 F78.A1 10/01/2021 MED13L syndrome Q87.85 MED13L 10/01/2023 Phelan-McDermid syndrome Q93.52 SHANK3 10/01/2023 SLC13A5 citrate transporter disorder E74.820 SLC13A5 10/01/2024 KCNQ2-related epilepsy G40.84 KCNQ2 10/01/2024 Kleefstra syndrome Q87.86 EHMT1 10/01/2024   5 Conclusion Syndrome-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. Although uptake of syndrome-specific ICD-10 codes showed gradual improvement over time, additional efforts, including automated and patient-driven coding support and integration of structured genetic data, are needed to ensure accurate and consistent use. Broader, multi-institutional studies will be essential to validate these findings and to guide strategies that maximize the clinical and research utility of syndrome-specific ICD codes as precision medicine advances.   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  #SLC6A1 QA0.0131 https://www.linkedin.com/posts/slc6a1connect_raredisease-icd10-genetics-activity-7374801222056411136-wmAZ #STXBP1 QA0.0141 https://www.stxbp1disorders.org/news/stxbp1-has-an-icd-10-code  #DLG4 QA0.0149 #Usher H35.5   CombinedBRAIN 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-codes   EVENTS! Scramble this weekend in Greer, SC! https://donate.curesyngap1.org/event/scramble-for-syngap-2025/e667451 Conference on Dec 4 & 5 in Atlanta, don’t miss. https://donate.curesyngap1.org/event/cure-syngap1-conference-2025-hosted-by-srf/e661355   CURE SYNGAP1 CONNECT https://curesyngap1.org/curesyngap1connect/   SOCIAL MATTERS - 4,376 LinkedIn.  https://www.linkedin.com/company/curesyngap1/  - 1,450 YouTube.  https://www.youtube.com/@CureSYNGAP1    - 11,285 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 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/consortia   In 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=asc   Cell 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 Insta https://www.instagram.com/curesyngap1/    COMPANIES WITH NAMED ASSETS FOR SYNGAP1 $CAMP $3.00 at close on 9/23   Episode 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 & Wedbush   William 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.”   Wedbush Ph1/2 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/srf   Episode 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-zVqR   Let 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-PVfG   See you Friday: Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25   SOCIAL 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. Empower Families - Support.  Educate.  Activate.  Coordinate. Use Money Catalytically - Tax advantage.  Pool.  Manage.  Make Catalytic.  Focus.  Manage. Partner with Science & Medicine - Push forward.  Connect efforts.  Focus on Tx.  Work in Clinic. Leverage Ecosystem.  Industry.  PAGs.  Superpags (CB, GG, ELF). 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=d6dCSBq27Gc   Friday: Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25   Scramble 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 Days https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/ Register (97 done!) Need to register for the conference? Do that here: cureSYNGAP1.org/Reg25   Get a Room (Deadline 11/3 – Will sell out) Need a hotel room? Use our block here: cureSYNGAP1.org/GATech   Get Friday Dinner Tickets we are going to AltaToro https://altatoro.com/ (20 already sold!) Register here: cureSYNGAP1.org/Din25   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-11802782 https://www.facebook.com/NationalAutism/posts/pfbid02MqviB8pfYpm8QMw5ASqp9XMQY2MsL7mVcJSfeLmzsHLHBAt9bBDjfuqdg2awXAtsl    3rd Scientific Congress in Spanish Oct 11 virtual 9-1:30 ET, 8-12:30 in Colombia https://curesyngap1.org/calendar/tercer-congreso-cientifico-syngap1-en-espanol/ Register at cureSYNGAP1.org/Congreso3   SOCIAL 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/srf   Pubmed 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/   Resources https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families   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 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/Gala5 Sad 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/Beacon25 Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble   SRF 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 Congress   Bexicaserin, 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/srf   DSCIII Renewed to include SYNGAP1 alongside TSC, SHANK3 (aka PMD) and PTEN.     CFC Starts on 9/1 https://curesyngap1.org/events/fundraisers/combined-federal-campaign-2025/   🔥🌡️ Syngapians don’t like the heat.   Conference is in 96 Days https://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=asc   SHARE 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/   Resources https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families   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 180 of #Syngap10  #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Friday, August 22nd, 2025. Week 34. The 5th Annual Gala is happening now!  https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-galaforsyngap1-activity-7363593302312402944-W_TZ cureSYNGAP1.org/Gala5   Sad to miss it?  Join us in Boston or South Carolina. Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25 Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble   Stoke 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-results 12 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-0001   Congrats 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 Support https://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.18613   SRF 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_link Philadelphia 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 Days https://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=asc   SHARE 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/   Resources https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families   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 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 old H 9 girl constantly running away B-7.5 years old Girl - 3 Fourteen. 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 awhile Boy, age 8.5. Just started eloping more so recently, in the last year. 11, girl Boy age 15 13 year old girl Girl-3 Ty 10 elopes since he can walk. It’s our biggest problem. Boy age 8 but has been doing it for a while Age 7, girl. Boy - 14y/o Boy 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 to Any chance he gets 13 My 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 case Boy , 25 the risk is high because he looks typical 25 yo female, requiring alarms, cameras,and specialized door locks.  In a state that says that these measures are unlawful restraint and invasion of privacy   Frazier, 2025. Extremely High finding as a Symptom of SYNGAP1.  See Table 2 of Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16112   McKee, 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/abstract   Cunnanne, 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=5098346   Impulsivity quotes:   Runs toward streets - “He wouldn't stop himself from running into the road. He climbs things in that house that you're like‘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 he just 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. We had a few scares where you look away for a moment, I mean, we always had somebody with her, but it could be a moment's time and it's like where'd you go, you thought she was right there.”   FUNDRAISING 3 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/Gala5 Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25 Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble   Also, Conference is in 107 Days https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/   STUDIES - MATTER https://docs.google.com/presentation/d/1yRPHMRY3pXPgbOacDM9Sr906VejdJWsonUWvqRD9VVI/edit?usp=sharing    Pubmed is at 37 (One a week!) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc   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 - 4,283 LinkedIn.  https://www.linkedin.com/company/curesyngap1/  - 1,420 YouTube.  https://www.youtube.com/@CureSYNGAP1    - 11,303 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/   Resources https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families   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 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/    PRESS Neuren on #NNZ2591 https://www.linkedin.com/posts/curesyngap1_neuren-adds-syngap1related-disorder-to-nnz2591-activity-7359712115668013057-2-HX    CAMP4 in IPM https://www.linkedin.com/posts/camp4-therapeutics_in-conversation-with-josh-mandel-brehm-ceo-activity-7359584335202541570-X-MX   FUNDRAISING 3 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/Gala5 Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25 Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble   Also, Conference is in 117 Days https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/   STUDIES - MATTER https://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=asc   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 - 4,265 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/   Resources https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families   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 177 of #Syngap10  #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Wed July 30, 2025 Audience: 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/emerald   A 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. It’s a liquid, can go oral or in a g-tube. There is no ramp up, you put it in and it works.  In terms of speed, think Lorazepam not Lamotrigine. 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. 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! CSO is Steve Petrou, works with SRF AUS and knows they are waiting. KD and AN started a company for SCN2A and it was absorbed by Praxis, they are still there and are relentless. 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=2894147 Embold read out: https://www.neurologylive.com/view/relutrigine-shows-promise-phase-2-embold-study-scn2a-dee-scn8a-dee FDA 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.html More links. https://delta.larvol.com/Products/?ProductId=05ccb036-a308-4249-abf6-e03b120839da   Why am I doing this? We need better meds and the way to meds is through trials. We need to jump at every trial, every time. 3. This one is decentralized, so minimum burden. If you get in now, this will be over before it’s ASO trial time, so you could do both. 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 Industry SYNGAP1 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=asc   CURE SYNGAP1 CONNECT https://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 28   ADAMS CAMP https://curesyngap1.org/podcasts/syngap10/adams-camp-is-amazing-so-are-compression-vests-s10e110/    CENSUS & WHY WE WILL SEE MORE PATIENTS AAP 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=0 First 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/Stories   IMPORTANT SRF POSTS Webinar #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 OUT Suzanne 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 & 5th Hotel has been selected for Atlanta - Georgia Tech Hotel & Conference Center; see cureSYNGAP1.org/Atlanta    FUNDRAISING - SIBLINGS ARE THE NEXT GEN OF SRF Fundraiser - 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/Webinars   PRESS RELEASE https://curesyngap1.org/blog/prof-kristian-stromgaard-awarded-cure-syngap1-grant-research-biomolecular-condensates-pr40/    WHY OUR RESEARCH MATTERS Bowie Lab Talk on Glutamatergic Neurons.  We learn about Intelligence from studying ID. https://www.youtube.com/watch?v=sfcN2BuZOJw   NUMBERS PUBMED 334, 26, so -1 vs. weeks. Follow on Youtube and LinkedIn, they matter. https://www.linkedin.com/company/curesyngap1/ 4,221 https://www.youtube.com/@CureSYNGAP1 1,390   #S10e173 CORRECTION I credited the Sprint blog to "probably Ed". Thanks, but that one was coordinated by Jo Ashline.   NICOLE’S POST I 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. I’ve cried because of you. Screamed into the silence. Begged the universe for answers it refuses to give. I’ve celebrated victories that should have been simple, ordinary things—but with you lurking in the shadows, nothing is ever simple. If I’m being honest, I hate you. I hate what you’ve done to my son. I hate that you’ve taken things from him that should have been his without question—his voice, his strength, his ease of movement, his peace. One day, he climbs like he was born to conquer mountains. The next, he struggles to take a step. You’re a thief, Syngap. You steal his vision, rob him of his muscle tone, drain his energy until even smiling feels like work. You wrap yourself around his body, his mind, his very existence, and no matter how hard I fight, you never let go. You make him miserable. And I hate you for it. You turn his nights into a battlefield, his sleep stolen by seizures, restlessness, and the chaos you planted in his brain. You keep his words locked inside, hidden in a place I can’t reach. And God, how I wish I could reach them. How I wish I could hear his thoughts, understand the words he wants so badly to say. Instead, I watch. I listen. I hold him when the frustration turns to tears, when his body betrays him, when he fights a battle most will never see. People don’t see what I see. They don’t hear the cries in the middle of the night or witness the exhaustion in his body. They don’t see the war raging inside him. And me? I’ve been called crazy, overprotective, dramatic. But I don’t care. I’ll wear those labels like armor. Because as long as my son is fighting, I will fight harder. You tried to take so much from us. You tried to steal my marriage, tried to break my family apart, tried to strip away our joy. You’ve knocked us down, over and over again. But listen to me, Syngap: you will never have us. And here’s the strangest thing. For all the hell you’ve put us through, you’ve also given me things I never expected. You’ve made me stronger than I ever thought possible. You’ve forced me to fight with a fierceness I didn’t know I had. You’ve shown me how to love deeper, to celebrate what others overlook, to appreciate moments most take for granted. You take and you take—but somehow, you also build. You break, yet somehow, you make us unbreakable. But hear me loud and clear: you don’t win. Tomorrow, my son will wake up, and despite you, he will rise. He will smile. He will fight. He will accomplish things you never thought he could. And I? I’ll be there, standing beside him, fighting for him, daring you to try and stop us. You don’t get the final say, Syngap. Not today. Not ever. My son is more than you. And you have underestimated his mother. Sincerely, A Syngap Momma

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 BIO https://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 CONNECT https://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 Webinar Saturday 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-45   FUNDRAISING Sprint 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/MDBR Harper $5k match! https://donate.curesyngap1.org/campaign/694764/donate Liam https://donate.curesyngap1.org/campaign/696438/donate Story https://donate.curesyngap1.org/campaign/695981/donate   Thank you for your support, still matching! https://donate.curesyngap1.org/campaign/693597/donate   Pubmed is at 24 (so less than one a week…) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc   Harrison paper on early exons and inherited mutations is great… https://www.eurekalert.org/news-releases/1088068    Cunnane DCM is out and Ingo noticed! https://epilepsygenetics.blog/2025/06/20/revisiting-syngap1-through-a-disease-concept-model/  She spoke at SRF Conference https://www.youtube.com/watch?v=nXagMfYh9VA    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 - 4,185 LinkedIn.  https://www.linkedin.com/company/curesyngap1/  - 1,380 YouTube.  https://www.youtube.com/@CureSYNGAP1    - 11,314 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 173 of #Syngap10  #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Sunday May 18, 2025. Week 21   Show notes on the site: https://curesyngap1.org/podcasts/syngap10/    CAMP4 Press Release https://investors.camp4tx.com/news-releases/news-release-details/camp4-presents-translational-data-syngap1-related-disorders Dr. Yuri at WODC: https://www.youtube.com/watch?v=oNwgo7TmrVo Presentation at ASGCT: https://investors.camp4tx.com/news-events/presentations GETA Talk: https://www.facebook.com/Syngapresearch/posts/pfbid08Aztex32vdwNZduVkPQeG353W49Dhq8iKJeZEkajKUmkeUiDdCwzyqa9ndEVpdCUl    To get these Therapies to kids the NHS data is key, ProMMis CHOP - Email them ENDD@chop.edu Stanford (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 Health https://cureSYNGAP1.org/Citizen is at 267, why not 300?   Hopkins article featuring SRF - Competition is good for the patient FB https://www.facebook.com/cureSYNGAP1/posts/pfbid07MP7St3zdxLKYXTJULKa5S35YvgL6AJndenHicedxU3rtQF6iY1wwwNUoDuUD9cpl LI https://www.linkedin.com/posts/curesyngap1_nih-cuts-stalling-progress-on-rare-genetic-activity-7328449817074946048-AAsB   ASGCT Mouse poster for Q504X from the JAX, Dr. Matt Simon Conf Video https://www.youtube.com/watch?v=loYXkkTSUIY  Presentation on AAV for SYNGAP1 at Allen by Dr. Megan Quinlan   What 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=dOeiPoa3gvM Eric Topol: https://erictopol.substack.com/p/the-first-human-to-undergo-in-vivo   More incredible news https://news.unl.edu/article/husker-team-wins-second-round-prize-in-nih-gene-editing-challenge   REPURPOSING Mike’s post in private SRF Group: https://www.facebook.com/groups/syngap #Amlexanox with Fortuity Pharma. https://fortuitypharma.com/    Butyrate Update https://aesnet.org/abstractslisting/phenylbutyrate-for-syngap1-related-developmental-and-epileptic-encephalopathy Trial 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 YTD https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&sort=date&sort_order=asc&timeline=expanded Sleep https://www.sciencedirect.com/science/article/abs/pii/S1389945724005793?via%3Dihub   SRF Fundraisers MDBR with AJH and HM https://curesyngap1.org/calendar/million-dollar-bike-ride-2025/   Well done to Tavilla and Jones!  We are over $221k Tavilla clears $160k for Sprint. https://donate.curesyngap1.org/campaign/sprint4syngap2025/c660255   Porter 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/e678677   SRF PROFILES Vicky post in Mexico https://www.linkedin.com/posts/victoria-arteaga-26913433_diagnostico-epilepsia-syngap1-activity-7329725268003069953-R41P Vicky’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/Warrior   PREREGISTER FOR THE CURE SYNGAP1 CONFERENCE https://curesyngap1.org/calendar/cure-syngap1-conference-2025-hosted-by-srf/

Email: Ilakkiah.Chandran@uhn.ca 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/mRlCA816Af8   CHD2 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: info@cureSYNGAP1.org    Thursday, May 1, 2025 #RareDisease #AdultPhenotype #AndradeRocks #SYNGAP1 #SynGAP #French #Portuguese #Spanish #Dutch #English #Brazil #UK #Canada

Friday, April 25, 2025 - DNA Day Good luck at Sprint tomorrow.  $194k at this moment.   WODC Readout Saw 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-7321668845495066624-1dDn Oliver'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_ls3OvtdFahBr4wAa8BL7aUkv Effie on TJB https://www.linkedin.com/posts/graglia_well-deserved-kudos-for-dr-terry-jo-bichell-activity-7321280877068541952-9f_1   CB 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