CURE SYNGAP1 Podcast

Wednesday, January 15, 2025 RESEARCH UPDATE There are 313 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!  So far 2 for 2025. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded Census = 1,530! https://cureSYNGAP1.org/Census, China was only 113, but now they are 246! Check out these social posts on our https://cureSYNGAP1.org/SRFPaper  https://www.linkedin.com/posts/curesyngap1_syngapresearchfund-syngap1-curesyngap1-activity-7285038902300569602-XTGJ https://x.com/cureSYNGAP1/status/1879272983077781804 https://fb.watch/x6KdWuLSA8/ STUDIES AND TRIALS ARE HAPPENING NOWhttps://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/ FUNDRAISING Coast2Coast Challenge $359,280 Syngap.Fund/C2C  FUNDRAISE https://syngap.fund/FR  #Sprint4Syngap is launching… https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2025 VOLUNTEER SPOTLIGHT Sara Driscoll - https://curesyngap1.org/team/volunteers/sara-driscoll/ CONFERENCE Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25  VOLUNTEER  Join us: https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 1,260 YouTube.  https://www.youtube.com/@CureSYNGAP1  - 3,906 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 11,670 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/  - 464 TikTok https://www.tiktok.com/@curesyngap1 NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources  Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 158 of #Syngap10  #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness  #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

#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 prommis@curesyngap1.orgGIVING 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: stacey@cureSYNGAP1.orgPAPERSPUBMED 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.....