CURE SYNGAP1 PODCAST aka SYNGAP10

Friday, January 10, 2025 NEWS Census = 1,530! https://cureSYNGAP1.org/Census https://cureSYNGAP1.org/NL42 All 2024 Science Conference videos (27 total) are now on our website and organized in this blog: https://cureSYNGAP1.org/SC24 Pods, listen to this: https://curesyngap1.org/podcasts/syngap1-stories/zoe-bailey/ AES JW - Everybody who was at AES felt the temperature change. Things are getting real and timelines are moving faster. Our job now is to convince donors that we need more fuel in the tank so we don’t miss opportunities indicative in families that this is no longer one day, but this is soon and they need to get ready. Veronica Hood: “Disease Modification is on the Horizon for DS” (and the rest of us!) https://dravetfoundation.org/spotlight-on-dravet-insights-from-the-2024-american-epilepsy-society-meeting/ STUDIES AND TRIALS ARE HAPPENING NOW Rochester, Eye Tracking, Sleep. Please sign up via link below and listen this from Peter: https://x.com/phalliburton/status/1873581064788336988 then start signing up… https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/ FUNDRAISING Coast2Coast Challenge $338,280 Syngap.Fund/C2C FUNDRAISE https://syngap.fund/FR Go Nikolas! $3,780 https://secure.givelively.org/donate/syngap-research-fund-incorporated/nikola-s-fundraiser #Sprint4Syngap is launching… https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2025 VOLUNTEER SPOTLIGHT: Ed Gabler https://curesyngap1.org/team/leadership-team/ed-gabler/ RESEARCH UPDATE There are 312 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! So far 0 for 2025. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded CONFERENCE Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25 VOLUNTEER https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 1,250 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,899 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,688 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 157 of #Syngap10 #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

Tuesday, December 17, 2024 Cure SYNGAP1 Conference - Resounding success https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Summary: http://www.draccon.com/dracaena-report/2024aes A few comments: https://www.linkedin.com/posts/richardnovak_clinical-rare-activity-7270806450090786816-m0OV https://www.linkedin.com/posts/haley-tokars-1b2b38209_i-had-the-privilege-of-attending-my-first-activity-7272056324090159104-xFSZ https://www.linkedin.com/posts/citizen-health-inc_aes2024-rareasone-activity-7270694148825845760-AIzF https://www.linkedin.com/posts/graglia_syngap-dreem-eeg-activity-7271993151131660288-GESy https://www.linkedin.com/posts/praxis-precision-medicines-inc_epilepsy-aes2024-ugcPost-7273392536130355200-x2pq https://www.linkedin.com/posts/syngap1-argentina-382156240_por-tercer-a%C3%B1o-consecutivo-syngap-argentina-activity-7271911668522098688-JlrW https://www.linkedin.com/posts/stoke-therapeutics_aes2024-epilepsy-activity-7273445932107538433-akYf Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25, https://investor.stoketherapeutics.com/events/event-details/understanding-dravet-syndrome-unmet-need-and-potential-disease-modification STUDIES AND TRIALS ARE HAPPENING NOW - https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/ Two trials to consider https://med.stanford.edu/autism/studies/pregnenolone-randomized-controlled-trial.html age 14-25 https://deepdeestudy.com/ list of sites: NJ & FL BONES https://youtu.be/RhaJnruZCzk?si=bnPtYPsRhOChfsH0 https://curesyngap1.org/blog/navigating-a-lifetime-of-diagnoses-michaels-syngap1-journey-and-the-effects-of-anti-seizure-medications-on-bone-density/ FUNDRAISING Coast2Coast Challenge $207,974 Syngap.Fund/C2C Join my team! https://secure.givelively.org/donate/syngap-research-fund-incorporated/coast2coast-clinics-challenge FUNDRAISE https://syngap.fund/FR CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/ VOLUNTEER SPOTLIGHT: Stacey Miller https://curesyngap1.org/team/leadership-team/stacey-miller/ Laura Bermingham of SLC6A1 https://curesyngap1.org/team/volunteers/laura-birmingham/ RESEARCH UPDATE There are 310 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded Latest are from Willsey & Frazier. Willsey: https://www.biorxiv.org/content/10.1101/2024.12.05.626924v1 Frazier: https://onlinelibrary.wiley.com/doi/full/10.1002/aur.3290 VOLUNTEER https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 1,240 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,883 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,739 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 156 of #Syngap10 #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

Tuesday, November 26, 2024 Annie Passed yesterday #SynGAPAngel https://www.linkedin.com/posts/graglia_the-syngap1-community-is-at-a-loss-as-we-activity-7267225798602874880-W9hw?utm_source=share&utm_medium=member_desktop SRF NEWS Stories just keeps getting better: https://curesyngap1.org/podcasts/syngap1-stories/stacey-miller/ New family video, use YouTube auto translate: Juliana Meza https://www.youtube.com/watch?v=NLkqswEvAQs Two trials to consider https://med.stanford.edu/autism/studies/pregnenolone-randomized-controlled-trial.html age 14-25 https://deepdeestudy.com/ list of sites: NJ & FL Two studies we all need to sign up for Sign up for Frazier https://syngap.fund/eye2 https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/ Citizen Health https://www.citizen.health/partners/srf Conference - Conference is 9 days away! Lineup: Science Day lineup - https://x.com/curesyngap1/status/1851723428677456093 Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267 Friday Join us for dinner! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-caregiver-dinner FUNDRAISING Coast2Coast Challenge $152,592 Syngap.Fund/C2C Minted Cards - 20% discount, 15% to SRF, code FUNDRAISESYNGAP - https://Syngap.Fund/Minted FUNDRAISE https://syngap.fund/FR CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/ VOLUNTEER SPOTLIGHT: Stephanie Decker https://www.linkedin.com/in/stefanie-decker-cpa-38776696/ ZOOM BACKGROUND https://drive.google.com/file/d/13jhPIBo-o1sHchEJz6KttocT1_h7GKZE/view?usp=sharing VOLUNTEER https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 1,230 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,851 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,779 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ - 456 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 155 of #Syngap10 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

Friday, November 15, 2024 SRF NEWS Busy week for Mike & Virginie: Citizen Health & Ultragenyx, not Milken. Sign up for Citizen Health https://www.citizen.health/partners/srf Growing our name https://curesyngap1.org/blog/syngap-research-fund-srf-announces-dba-cure-syngap1-a-new-era-in-the-search-for-a-cure/ Financials updated with 2023 https://curesyngap1.org/finances/ Thank you Stefanie Decker! Newsletter #41 - https://Syngap.Fund/NL41 - About why we need a cure - quotes from our families We're over 100 volunteer bios on the website! More being added every week! Great work Zoe! https://curesyngap1.org/team/ Cafe SYNGAP1 e24 is up! Gloria Amparo Guzmán Cali, Colombia https://syngap.fund/Cafe 4MTx Announcement and direct impact on pipeline https://www.4mtx.net/news/4m-therapeutics-compounds-to-be-utilized-in-research-project-funded-by-national-institute-on-aging-bjebr https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/ Speaking of small molecules, get this on Ravicti https://www.medrxiv.org/content/10.1101/2024.11.06.24316676v2 RESEARCH UPDATE There are 306 papers on or related to SYNGAP1 since 1998, but 48 of those are in 2024! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded Latest is from Frazier! https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16112 Sign up for Frazier https://syngap.fund/eye2 https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/ More Grants at work Science: Key Missense Webinar next week https://curesyngap1.org/resources/webinars/virtual-and-experimental-approaches-to-the-pathogenicity-of-syngap1-missense-mutations/ New study at CHOP - Phenotype of the Hispanic SYNGAP1 Family. Details (English or Spanish) at https://Syngap.Fund/CHOPEsp Bower family blog - Camden's trip to CHCO - https://Syngap.Fund/CamCHCO Thank you Corey Baysden for getting the Studies so well organized! https://curesyngap1.org/resources/studies/ Conference - Conference is 18 days away! Lineup: Science Day lineup - https://x.com/curesyngap1/status/1851723428677456093 Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267 Friday Join us for dinner! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-caregiver-dinner FUNDRAISING Coast2Coast Challenge $120,642 Syngap.Fund/C2C Minted Cards - 20% discount, 15% to SRF, code FUNDRAISESYNGAP - https://Syngap.Fund/Minted FUNDRAISE https://syngap.fund/FR CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/ VOLUNTEER SPOTLIGHT:Amber Mickler https://www.linkedin.com/posts/amber-mickler-9b3534b8_syngap1-weneedacure-raredisease-activity-7263047283305320448-GpQK ZOOM BACKGROUND https://drive.google.com/file/d/13jhPIBo-o1sHchEJz6KttocT1_h7GKZE/view?usp=sharing VOLUNTEER https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 1,220 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,847 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,815 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ - 442 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 154 of #Syngap10 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

STUDIES AND A TRIAL FRAZIER https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/ CHANGES (UK) https://curesyngap1.org/resources/studies/changes-study-adults-an-investigation-into-behaviour-and-physiology-in-syngap1/ PNO https://curesyngap1.org/resources/studies/pregnenolone-treatment-trial-for-individuals-with-autism/ Science: Chow Press - https://curesyngap1.org/blog/dr-clement-chow-at-the-university-of-utah-receives-support-from-syngap-research-fund-srf-to-accelerate-therapeutic-development-for-syngap1-related-disorders-pr30/ Sohal Webinar - https://curesyngap1.org/resources/webinars/94-targeting-gamma-oscillations-to-improve-cognition/ or https://fb.watch/vBYXj4FY7A/ Conference - Conference is 1 month away! Lineup: Science Day lineup - https://x.com/curesyngap1/status/1851723428677456093 Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267 Friday Join us for dinner! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-caregiver-dinner RESEARCH UPDATE There are 304 papers on or related to SYNGAP1 since 1998, but 46 of those are in 2024! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded Latest is from Canada, where they look at the impact of SYNGAP1 on auditory cortex function, social behavior and ability to extinguish fear memories. https://www.jneurosci.org/content/early/2024/10/08/JNEUROSCI.0946-24.2024.long FUNDRAISING - Coast2Coast Challenge $92,754 Syngap.Fund/C2C - Missense Account of the Fund $25,940 https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund - Charmander $10,585 https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander - Emmy $8,347 https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research Minted Cards - 20% discount, 15% to SRF, code FUNDRAISESYNGAP - https://Syngap.Fund/Minted Lovely blog on Scramble: https://curesyngap1.org/blog/swinging-for-a-cause-the-3rd-annual-scramble-for-syngap1/ ZOOM BACKGROUND https://drive.google.com/file/d/13jhPIBo-o1sHchEJz6KttocT1_h7GKZE/view?usp=sharing VOLUNTEER https://curesyngap1.org/volunteer-with-srf/ FUNDRAISE https://syngap.fund/FR CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/ SOCIAL MATTERS - 1,200 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,818 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,889 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ - 442 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 153 of #Syngap10 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

Tuesday, October 22, 2024 First Principles Genetic disease means that gene broken since conception. Novel medicines are possible ways to fix the gene - Genetic Therapies (ASO &/or AAV), this is recent, before now, kids with these diseases were a “go home and love them” situation. These are delivered via spinal tap or directly to the brain in leading medical centers. First though, regulators must approve. Our job Develop medicines or get industry to - This is happening see Pipeline Get regulators to approve trials Get medical centers up to speed on SYNGAP1-Related Disorders (SRD) What we are building on CHOP ENDD funded externally (see #S10e92) and replicating what was built for STXBP1, check last week’s webinar https://curesyngap1.org/resources/webinars/93-endd-chop-2024-syngap1/ Rare-X platform for PRO collection Regulatory pathway being made clearer every day by Stoke (Dravet), Praxis (SCN2A), Ionis (many) all of whom are working on SYNGAP1 as well. What we are asking for We need to raise at least $500k (3rd site), preferably $1.13M (ProMMiS) Make your largest gift ever to SRF Fundraise with friends and family ACES is now ProMMiS, who knew ACE meant Adverse Childhood Event, not us. Key slides: S1 Path to Treatment | 2024 (09.27.24) 1. Why Now? Why is it time to go from bench to bedside (research to clinical)? At least 10 companies on our pipeline not to mention multiple small molecule efforts We have limited resources – so the focus has to transition, clinical funding first. CHOP Gift is 1 year down… 2. Why NHS?Understand SYNGAP1 better, go beyond Vlaskamp 2019 and Wiltrout 2024, see #S10e105 FYI at CHOP, as I shared in #S10e151, at year 1, we are at – 86 (Visits) + 10 (new scheduled) + 19 (2nd) + 4 (3rd) + 22 (follow up) Learn what to measure in clinical trials for SRD, remember our seizures are challenging Ideally we develop a Synthetic Control Arm if we use GCP Why top shelf? We need institutions the FDA will take seriously and our children are very complex requiring experienced clinicians. 3. Why Multidisciplinary. Neuro, Psych, Genetics, PT, ST, OT, GI, Sleep, ENT, Ortho. Beyond the sheer burden of getting our kids out and about for multiple appointments the coordination by a parent is almost impossible. 4. Why Multisite/3 sites?Replicable/scalable required by regulators Accessibility (not primary reason) Establish more locations where trials will be managed Laying a foundation for a national self-sustaining network 3 is the minimum, look at STARR or Angelman, both had/ve 4. 5. How and why so fast? Because we can. Time is Brain. Following a well trodden path SMA, Rett, Angelman, Dravet, but we are moving FASTER. 6. Does the industry really care? We are next there are so so many behind us, eager to take the resources we have access to today. Market size (Per our Census 425 US/1500 global is tip of iceberg) Multiple players reassuring each other Relatively strong amount of scientific and clinical research Haploinsufficiency (like Dravet – STOKE) – so relatively easy 7. Expensive? No. Clinical Research is more expensive than basic scientific research. Leveraging CHOP and Rare-X, setting up required networks to prepare for clinical trials. It’s time. 8. Why Bother/Help? Now is the time for SYNGAP1, we miss it at our peril. Sure, once in these places we will still see our patients, but the study, the support and the focus may pass. Our kids don’t die, regardless of patient age, what we are doing can change their future and that of their loved ones and caregivers. If not us, then who? It is a rare exception when a non-family member gives a gift, and it is always because a family member asked. We must ask. 9. What can I do? Donate to, share, join our Coast2Coast Clinics Challenge – two SYNGAP1 Squads in West and East – it’s critical $500k goal by end of 2024; more than $1M needed just for the SYNGAP1ProMMiS. So far, donations from $25 to $25,000 – each and every contribution matters. This requires our entire S1 network to solicit family, friends, work colleagues, companies, etc. to contribute. Many causes out there – why not ours? Syngap.Fund/C2C https://Syngap.Fund/C2C > https://secure.givelively.org/donate/syngap-research-fund-incorporated/coast2coast-clinics-challenge Two teams: https://Syngap.Fund/West & https://Syngap.Fund/East

📝Full show notes: https://curesyngap1.org/podcasts/syngap10/ Census is at 1,497! Syngap.Fund/Census Fundraising Season! Gala is tonight in NJ! Syngap.Fund/CLG4 #NLKrox - UFD Tech, $52,094 - Scramble, $28,000 Current Efforts: - Coast2Coast Challenge $42,691 Syngap.Fund/C2C - Missense Account of the Fund $23,684 https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund - Charmander $10,585 https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander - Emmy $8,173 https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research ONLINE SHOPPINGS EBay - We have an eBay shop sell for SRF! https://charity.ebay.com/charity/i/SynGAP-Research-Fund--Inc-/171038 Amazon - https://curesyngap1.org/blog/srf-amazon-storefront-to-cure-syngap1/ FRAZIER STUDY - Half enrolled! https://Syngap.Fund/Eye2 [email protected] CHOP is 1! - 86 (Visits) + 10 (new scheduled) + 19 (2nd) + 4 (3rd) + 22 (follow up) = DATA - https://x.com/cureSYNGAP1/status/1843684785740255303 School and Behaviour Go Elle! https://www.govtech.com/education/k-12/special-education-desperate-for-support-amid-severe-behaviors Do you have an advocate and a lawyer? I just got an email from an advocate. We need to do a webinar with Jackie, Nancy, Elle and others. #NLKrox On the site Syngap.Fund/Bones & lit review Syngap.Fund/AEDeffect Syngap.Fund/Sibling with the inaugural issue from Nancy #NLKrox Syngap.Fund/InsWin Insurance with Sara Driscoll Vicky & Merlina are unstoppable SHER Board: https://www.linkedin.com/posts/sherusaoficial_excited-to-introduce-the-board-of-directors-activity-7250152735403040768-Q18W Colombia Meeting: https://www.linkedin.com/posts/victoria-arteaga-26913433_raredisease-patientsfirst-collaboration-activity-7246975509358612480-InHP Cafe SYNGAP1 is up to 20! Syngap.Fund/Cafe Conference - Conference is 47 days away Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Register now - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf Book a room - https://bookings.omnihotels.com/event/los-angeles-california-plaza/2024%20SRF-SLC6A1-Connect-and-Cure-GABA-A Industry News - Lundbeck is back into the rare epilepsy space through the acquisition of Longboard for the drug bexicaserin https://www.linkedin.com/posts/anamingorance_lundbeck-signs-25b-check-for-longboard-activity-7251598931069960192-ytkb MNDU3 re https://pubmed.ncbi.nlm.nih.gov/38967915/ https://www.biospace.com/drug-development/7-children-receiving-bluebirds-gene-therapy-developed-blood-cancers-study RESEARCH UPDATE There are 303 papers on or related to SYNGAP1 since 1998, but 45 of those are in 2024! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded So much to note, Bateup and Silverman with mice, Vanderhaeghen on SRGAP-2, CHOP on EEG… https://www.cell.com/neuron/fulltext/S0896-6273(24)00645-7 VOLUNTEER https://curesyngap1.org/volunteer-with-srf/ FUNDRAISE https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ now including a webinar from the greats! CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/ SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,200 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,818 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,889 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ - 442 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! SRF Apple Podcast Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 151 of #Syngap10 - Friday, October 18th, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

UFDTech, Eye-tracking, Praxis #DEEpDive, Stoke, Lacoste, Devinsky, #SRFConf, #S10e150 📝Full show notes: https://curesyngap1.org/podcasts/syngap10/ FRAZIER STUDY https://Syngap.Fund/Eye2 [email protected] Praxis DEEp Dive https://x.com/JMGraglia/status/1838548992285896914 SRF Deck https://docs.google.com/presentation/d/1ePB5Ou6bGZ2NWWHIEwkO2dGSRYifyZEJy4KZF2fanq4/edit?usp=sharing We Need A Cure Yesterday blog https://curesyngap1.org/blog/we-need-a-cure-for-syngap1-yesterday/ Chronic Grief Al Freedman https://www.linkedin.com/posts/graglia_activity-7240740334329102336-hidL/ Short: https://www.youtube.com/watch?v=Y_5UlBQVe2w Conference - Conference is 72 days away Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Register now - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf Book a room - https://bookings.omnihotels.com/event/los-angeles-california-plaza/2024%20SRF-SLC6A1-Connect-and-Cure-GABA-A Sponsor alongside Jones, Wieczrek and Graglia. PR out this week Lacoste (https://Syngap.Fund/PR28) https://curesyngap1.org/blog/dr-baptiste-lacoste-receives-syngap-research-fund-grant-for-research-on-vascular-and-metabolic-dysfunction-in-syngap1-related-disorders-pr28/ Devinsky (https://Syngap.Fund/PR29) https://curesyngap1.org/blog/six-patient-advocacy-groups-collaborate-to-co-fund-a-single-center-observational-study-of-seizure-types-in-rare-genetic-epilepsies-pr29/ UFD Tech Cure Stream - 6 days + 21 hours of live-streaming from Pittsburgh! September 23 3:00 Eastern to Sept 30 noon. https://www.justgiving.com/page/ufd-2024 https://www.youtube.com/watch?v=DtOyV2FNJ-s PRESS ABOUT FOF (Friends of the Fund) Stoke: https://www.businesswire.com/news/home/20240910810707/en/Stoke-Therapeutics-Presents-Zorevunersen-Data-Showing-Substantial-Reductions-in-Seizures-and-Improvements-in-Multiple-Measures-of-Cognition-and-Behavior-That-Support-the-Potential-for-Disease-Modification-in-Dravet-Syndrome RESEARCH UPDATE There are 297 papers on or related to SYNGAP1 since 1998, but 37 of those are in 2024! Now tied for 2nd place with 2009, but this year will be over 43, I’m certain. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded Three papers to note: Missense Server Case Study: https://academic.oup.com/bib/article/25/6/bbae458/7765456?login=false Rat GAP Paper: https://www.cell.com/cell-reports/fulltext/S2211-1247(24)01084-2 VOLUNTEER https://curesyngap1.org/volunteer-with-srf/ FUNDRAISE https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ now including a webinar from the greats! CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/ Scramble for Syngap - 11 days! - October 5, Greer, South Carolina over $20k https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/ TV! https://www.wspa.com/your-carolina/scramble-for-syngap/ SynGAP Research Fund Gala - 24 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/ Missense Account of the Fund $23,684 https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund Emmy $8,173 https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research Charmander $5,303 https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander YOU? https://curesyngap1.org/blog/fundraising-the-backbone-of-research/ CB Blood Donation accelerates Science! These samples are being used today! PWS/USP7 conference (Atlanta, GA, September 26-27, 2024) COMBINEDBrain conference (Kansas City, MO, September 29th, 2024) SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024) https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024 SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,140 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,789 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,736 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 439 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! SRF Apple Podcast Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 150 of #Syngap10 - Tuesday, September 24th, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

📝Full show notes: https://syngap.fund/n149 FRAZIER STUDY https://Syngap.Fund/Eye2 [email protected] SRD JOINS CFC #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/ PRESS ABOUT FOF (Friends of the Fund) Praxis https://firstwordpharma.com/story/5891543 Unravel https://curesyngap1.org/blog/unravel-biosciences-and-syngap-research-fund-clinical-research-to-accelerate-new-and-repurposed-therapies-for-syngap1-related-disorders-pr27/ RESEARCH UPDATE There are 295 papers on or related to SYNGAP1 since 1998, but 35 of those are in 2024! Now in 3rd place, but this year will be over 43, I’m certain. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded Three papers to note: Humanized Mouse from Penn: https://pubmed.ncbi.nlm.nih.gov/39229131/ Behavioral Phenotype from Hopkins: https://pubmed.ncbi.nlm.nih.gov/38783394/ Catatonia: https://pubmed.ncbi.nlm.nih.gov/39235394/ also on https://www.medrxiv.org/content/10.1101/2024.09.05.24312724v1 for meds for Profound Autism. Recent talk: https://www.youtube.com/watch?v=JiOSKanKRfE CHRONIC GRIEF We have to talk about this. We all need support. Pretending this isn’t happening is a disservice to ourselves, our kids and our families. VOLUNTEER https://curesyngap1.org/volunteer-with-srf/ FUNDRAISE https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ now including a webinar from the greats! Smarts for Syngap - DC Trivia Night - Congratulations Scramble for Syngap - 26 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/ TV! https://www.wspa.com/your-carolina/scramble-for-syngap/ SynGAP Research Fund Gala - 39 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/ Missense Account of the Fund $23,684 https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund Emmy $8,147 https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research Charmander $5,150 https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander YOU? https://curesyngap1.org/blog/fundraising-the-backbone-of-research/ CALENDAR MANAGEMENT Conference is 87 days away, WE HAVE A ROOMBLOCK & Registration is live! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf Conference Registration - 89 for Science Day & 88 for Family Day (incl 19 patients) CB Blood Donation accelerates Science! These samples are being used today! PWS/USP7 conference (Atlanta, GA, September 26-27, 2024) COMBINEDBrain conference (Kansas City, MO, September 29th, 2024) SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024) https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024 SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,090 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,765 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,600 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 429 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! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 149 of #Syngap10 - Monday, September 9th, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

📝Full show notes: https://syngap.fund/n148 BACK TO SCHOOL 2024 Push the schools to do better, at every turn. Different than 2023: https://curesyngap1.org/podcasts/syngap1-stories/syngap1-stories-episode-016-mike-graglia STUDY https://Syngap.Fund/UB (Unravel Biosciences) 3 forms to fill out, please let us know if you want to participate. PRESIDENT & COO SEARCH https://curesyngap1.org/blog/srf-is-hiring-position-of-president-chief-operating-officer-coo/ RESEARCH UPDATE There are 293 papers on or related to SYNGAP1 since 1998, but 33 of those are in 2024! Tied for 3rd place, but this year will be over 43, I’m certain. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded Latest: GOS UK team calls for more OT and ST vs other patients with DD/ID https://pubmed.ncbi.nlm.nih.gov/39148034/ PRESS ABOUT FOF (Friends of the Fund) Fondo joins FECOR - ​​https://www.instagram.com/p/C-8dJG7vEDd/?igsh=ZmYxYjQzMm43aHlp&img_index=1 JW - https://www.latimes.com/socal/daily-pilot/news/story/2024-08-02/newport-beach-family-seeks-to-ensure-rare-disease-funding-continues TJB - X https://x.com/JMGraglia/status/1825949467973136804 L https://www.linkedin.com/posts/graglia_how-a-midwife-became-a-neuroscientist-to-activity-7231714648767479808-k13w?utm_source=share&utm_medium=member_desktop F https://www.facebook.com/mike.graglia/posts/pfbid02UjRLWVQRzrD6j3YngnJx1R49cUBb188zKsxauvanSaZnAh7pW6UQntQB7QKFKqSwl VOLUNTEER NEEDS Thank you Grants, Aaron & Sarah Fundraising and Finance Volunteer! https://curesyngap1.org/volunteer-with-srf/ https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ Smarts for Syngap - DC Trivia Night - 14 Days - September 4, 2024 Scramble for Syngap - 45 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/ SynGAP Research Fund Gala - 59 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/ Missense Account of the Fund $21,684 https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund Emmy $6,549 https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research YOU? https://curesyngap1.org/blog/fundraising-the-backbone-of-research/ CALENDAR MANAGEMENT Conference is 106 days away, WE HAVE A ROOMBLOCK & Registration is live! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf Conference Registration - 57 for Science Day & 66 for Family Day CB Blood Donation accelerates Science! These samples are being used today! PWS/USP7 conference (Atlanta, GA, September 26-27, 2024) COMBINEDBrain conference (Kansas City, MO, September 29th, 2024) SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024) https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024 SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,070 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,744 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,375 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 420 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! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 148 of #Syngap10 - Wednesday, August 21th, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

📝Full show notes: https://syngap.fund/n147 FDA Talk this week! Thank you Beacon! https://syngap.fund/fda24 SRF ADVOCACY - Don’t miss the chance to beef up your advocate muscles, after we get through FDA, the fun has just begun. JK & JJ are amazing. https://curesyngap1.org/team/leadership-team/jackie-kancir/ ADULT ADVOCACY SRF & UBC: https://curesyngap1.org/adults-with-syngap1-caregiver-resources/ also /Adult Interview: https://www.youtube.com/watch?v=JDiD8Z3lWQk Foundation: https://colinfarrellfoundation.org/ WaPo Article: https://www.washingtonpost.com/health/2024/08/08/what-is-angelman-syndrome-colin-farrell-son/ LEVERAGE PARTNERS https://globalgenes.org/blog/global-genes-sweet-16th-birthday-success-stories/ Go to GG Rare Advocacy Summit Sept 26 & 27. https://globalgenes.org/week-in-rare/ SCIENCE TEAM PROJECT ACES - Accelerating Clinical Excellence for SRD - CHCO & Data PROJECT SBOM - SYNGAP1 Biomarker & Outcome Measures - Analysis PROJECT SMART - SYNGAP1 Missense Analysis Research & Therapeutics - In flight PROJECT PURPOSE - Repurposing - Ravicti, NAL, Nortriptyline - Unravel PROJECT FACILITATE - Tools and Reagents - Mice work in flight RESEARCH UPDATE There are 292 papers on or related to SYNGAP1 since 1998, but 32 of those are in 2024! We are more than on track to set a record this year with the biggest annual output being in 2023 with 43 papers. I’ve seen multiple papers being submitted lately, it’a actually hard to keep up. LINK LATEST PAPER: https://www.eurekalert.org/news-releases/1053579 WEBINAR: https://curesyngap1.org/resources/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development/ FUNDRAISERS! Go Australia! https://www.theland.com.au/story/8704556/support-syngap1-research-win-a-toyota-hilux-sr5/ 3 state advocates on website & 17 ambassadors with more coming - still need volunteers for many states! Contact Jackie (Adv) or Corey (Amb) Smarts for Syngap - DC Trivia Night - 24 Days! Scramble for Syngap - 55 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/ SynGAP Research Fund Gala - 68 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/ Missense Account of the Fund $21,684 https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund Emmy $6,449 https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research YOU? https://curesyngap1.org/blog/fundraising-the-backbone-of-research/ CALENDAR MANAGEMENT Conference is 116 days away, WE HAVE A ROOMBLOCK & Registration is live! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf Conference Registration - 44 for Science Day (36 caregivers) & 52 for Family Day (36 caregivers, 13 kids/sibs) CB Blood Donation accelerates Science! These samples are being used today! PWS/USP7 conference (Atlanta, GA, September 26-27, 2024) COMBINEDBrain conference (Kansas City, MO, September 29th, 2024) SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024) https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024 SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,070 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,713 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,168 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 418 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! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Cafe Syngap1 #17 https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525?i=1000664777811 Episode 147 of #Syngap10 - Sunday, August 11th, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

📝Full show notes: https://syngap.fund/n146 Off to Adam’s Camp: https://www.youtube.com/watch?v=WBBEZPLRaBQ #S10e110 Newsletter #39 - syngap.fund/NL39 https://mailchi.mp/curesyngap1.org/thefutureisnow-17390566 Cafe Syngap16 https://curesyngap1.org/podcasts/cafe-syngap1/norma-herrara/ Zempleni Grant https://curesyngap1.org/blog/syngap-research-fund-srf-continues-support-for-exosome-research-for-syngap1-related-disorders-srd-in-the-lab-of-professor-janos-zempleni-of-the-university-of-nebraska-lincoln-pr25/ Accelerating Clinical Excellence - PROJECT ACE - Multisite Multidisciplinary Prospective Natural History Study (MsMdProNHS) - CHOC Webinar: https://curesyngap1.org/resources/webinars/91-syngap1-natural-history-study-at-childrens-hospital-colorado/ Will not collect for biobank! Top 5 from Abbott webinar: Colorado seeing less patients than CHOP, but could see more if the interest raises. Wherever you are, get to a site. The more data you have, the more industry interest. This is a partnership between CHOP & CHCO. Data will be shared across all sites. Very good for SYNGAP1 research. Model successful with other rares, ie CDKL5 and STXBP1. Visit info: CHCO visits are split over 2 days. Visits will include behavioral support with neuropsych. Multidiciplinary clinic space itself is really nice and well-planned. SRF board approved travel reimbursement. Dinner on Saturday, talk to Lauren To sign up for the Colorado clinic please contact SRF Ops Manager, Lauren Perry, [email protected]. FUNDRAISERS! Scramble for Syngap - 70 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/ SynGAP Research Fund Gala - 83 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/ Missense Account of the Fund $21,534 https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund Emmy $5,799 https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research YOU? https://curesyngap1.org/blog/fundraising-the-backbone-of-research/ CALENDAR MANAGEMENT Conference is 131 days away, WE HAVE A ROOMBLOCK & Registration is live! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf CB Blood Donation accelerates Science! These samples are being used today! Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024) HNRNPH2 conference (Seattle, WA, July 29-30, 2024) PWS/USP7 conference (Atlanta, GA, September 26-27, 2024) COMBINEDBrain conference (Kansas City, MO, September 29th, 2024) SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024) https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024 Hi Zoe! Do you have LGS? Harmony Biosciences bought Epigenyx https://www.prnewswire.com/news-releases/harmony-biosciences-acquires-epygenix-therapeutics-inc-adding-late-stage-epilepsy-franchise-to-growing-pipeline-of-innovative-cns-assets-302131000.html This write is a bit incomplete as it just says 5-HT2, which is a just receptor family: 5-HT2A 5-HT2B - this the receptor linked to cardiac. Fenfluramine, a nonselective serotonin-releasing agent, its adverse effects were linked to activating this receptor 5-HT2C - bexicasarin selectively activates this. SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,060 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,703 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,016 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 417 TikTok https://www.tiktok.com/@curesyngap1 Here is a way to use it #SyngapSeizure NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 146 of #Syngap10 - July 27, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

📝Full show notes: https://syngap.fund/n145 2020 COBA GRANT https://keck.usc.edu/news/ksom-researcher-awarded-130000-from-syngap-research-fund-to-study-rare-genetic-disease/ SYNGAP.FUND/IPSC > https://curesyngap1.org/ips-cell-models/ 2022 QUADRATO GRANT & 2022/3 PAPER MAY 22 PRE-PRINT: https://www.biorxiv.org/content/10.1101/2022.05.10.491244v1.full SRF PR: https://www.eurekalert.org/news-releases/1050685 2022 ANDERSON GRANT & 2024 PAPER Webinar: https://curesyngap1.org/resources/webinars/evaluation-of-a-stem-cell-gene-therapy-approach-for-syngap1/ Announcement: https://www.linkedin.com/posts/curesyngap1_syngap1-srfresearch-stemcelltherapy-activity-7215557722614743041-rxOV Angelman: https://pubmed.ncbi.nlm.nih.gov/33856035/ Transformatx Biotheraputics LLC: https://cureangelman.org/fast-announces-formation-of-lentiviral-gene-therapy-company MNDU3: https://www.fiercepharma.com/pharma/fda-wants-classwide-boxed-warning-all-commercial-car-t-therapies-amid-secondary-cancer TAKEAWAY: Focus on the clinic, and let the best therapy win. CLINICAL NETWORK / NHS UPDATE COLORADO webinar postponed, still register, we will notify you via email of the new date. https://syngap.fund/Abbott To sign up for the Colorado clinic please contact SRF Ops Manager, Lauren Perry, [email protected]. CALIFORNIA SYNAPTOPATHY CLINIC (CSC) starting to see patients, if you are in CA call them. https://curesyngap1.org/blog/srf-announces-stanford-launches-california-synaptopathy-clinic/ FUNDRAISING Missense Account of the Fund $10k+ https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund Emmy $5k+ https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research YOU? https://curesyngap1.org/blog/fundraising-the-backbone-of-research/ CALENDAR MANAGEMENT Rare Across America is 24 days away, registration ends in 10 days! https://everylifefoundation.org/rare-advocates/rare-across-america/ Conference is 146 days away & Registration is live! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf CB Blood Donation accelerates Science! STXBP1 conference (Philadelphia, PA, July 19-21, 2024) Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024) HNRNPH2 conference (Seattle, WA, July 29-30, 2024) PWS/USP7 conference (Atlanta, GA, September 26-27, 2024) COMBINEDBrain conference (Kansas City, MO, September 29th, 2024) SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024) NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,050 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,685 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 10,724 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 415 TikTok https://www.tiktok.com/@curesyngap1 Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 145 of #Syngap10 - July 11, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

📝Full show notes: https://syngap.fund/n144 CENSUS = 1,454 https://curesyngap1.org/how-many-people-have-syngap1-census/ STX version! https://www.stxbp1disorders.org/news/stxbp1-census-q1-2024 FUNDRAISING Missense Account of the Fund https://www.linkedin.com/posts/curesyngap1_syngap1-srd-autism-activity-7213973153071472640-uSYE Explainer - https://www.youtube.com/watch?v=C9bGOA2MFHc Pipeline - https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/ Emmy https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research YOU? https://curesyngap1.org/blog/fundraising-the-backbone-of-research/ PHARMA https://www.longboardpharma.com/ http://longboardpharma.gcs-web.com/news-releases/news-release-details/longboard-pharmaceuticals-receives-breakthrough-therapy CIRM Petition - https://www.linkedin.com/feed/update/urn:li:activity:7210079591275626497 Post - https://www.linkedin.com/posts/nashafitter_rareasone-activity-7212446744511414272-B8qx Talk - https://david293.substack.com/p/text-of-comments-by-mike-graglia HOPE - Caring for your SYNGAPian Rainy’s drive - https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/ My visit - https://www.facebook.com/permalink.php?story_fbid=pfbid0SFg2Mx8jxkS8oeStYn5yqEhYgWVAhhQeX8WiSGQqhPcxpTgtyG1TtbaPMBMTAmVGl&id=100088305909698 Keto is powerful, and tricky https://curesyngap1.org/resources/webinars/keto-mad-syngap-parents-experience-syngap1/ Heat is not good - We need a blog here… Adenoids and tonsils are an issue - https://curesyngap1.org/blog/syngap-sleep-you-could-be-one-more-test-away-from-helping-your-syngapian-thrive/ CLINICAL NETWORK / NHS UPDATE COLORADO webinar next week! https://syngap.fund/Abbott July 11, 2024 at 9 Pacific. CALIFORNIA SYNAPTOPATHY CLINIC (CSC) starting to see patients, if you are in CA call them. https://curesyngap1.org/blog/srf-announces-stanford-launches-california-synaptopathy-clinic/ CALENDAR MANAGEMENT Rare Across America is 34 days away, registration ends in 10 days! https://everylifefoundation.org/rare-advocates/rare-across-america/ Conference is 156 days away & Registration is live! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf SHOUTOUTS JACKIE NEW ED OF NCSA https://www.ncsautism.org/blog/ed Jess, Zoe, Lauren, Ed, Suzanne, Heather, Corey… CB Blood Donation accelerates Science! STXBP1 conference (Philadelphia, PA, July 19-21, 2024) Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024) HNRNPH2 conference (Seattle, WA, July 29-30, 2024) PWS/USP7 conference (Atlanta, GA, September 26-27, 2024) COMBINEDBrain conference (Kansas City, MO, September 29th, 2024) SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024) NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,040 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,660 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 10,659 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 415 TikTok https://www.tiktok.com/@curesyngap1 Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 144 of #Syngap10 - July 2, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

📝Full show notes: https://syngap.fund/n143 BIO WAS GREAT https://www.linkedin.com/posts/nashafitter_bio2024-activity-7204906035000582145-Meyp GRANTS APPROVED Multiple grants and agreements approved, wait for press releases. Thank you Aaron & Sarah, Lauren! FUNDRAISING - Great work to MDBR - Almost $45k, that will be added to $30k! https://charity.pledgeit.org/t/jY577u7uMc Awesome Peter, Heather, Aaron, Justin Albrect & Kali Worth. Also Dr Jillian McKee! - Blane & Ashley Dallen in Canada raised almost $15k via a tournament. NHS UPDATE Colorado should start seeing patients in August! Don’t cancel CHOP appointments, some people have no choice. CHATS WITH INDUSTRY Prevalence: They are easily missed. The math is clear. Lots of data. 1% of ID = 35k+ 1/100k at 3.6m in 2023 = 36 a year, minimum with PTV. 5/100k = 180. A YEAR. Caren is 65. 36 x 65 = 2,340 PTVs vs 400 SRF knows about) https://curesyngap1.org/blog/why-are-we-so-sure-that-syngap1-related-intellectual-disability-is-under-diagnosed/ CALENDAR MANAGEMENT Rare Across America is 28 days away, register now: https://everylifefoundation.org/rare-advocates/rare-across-america/ Conference is 170 days away & Registration is live! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf CB Blood Donation accelerates Science! STXBP1 conference (Philadelphia, PA, July 19-21, 2024) Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024) HNRNPH2 conference (Seattle, WA, July 29-30, 2024) PWS/USP7 conference (Atlanta, GA, September 26-27, 2024) COMBINEDBrain conference (Kansas City, MO, September 29th, 2024) SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024) SHOUTOUTS - Zoe https://curesyngap1.org/blog/parents-take-action-after-syngap1-related-disorder-diagnosis/ - We need a Pavel award. NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,030 YouTube. https://www.youtube.com/@CureSYNGAP1 - 10,421 Twitter https://twitter.com/cureSYNGAP1 - 3,652 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 49k Insta https://www.instagram.com/curesyngap1/ - 397 TikTok https://www.tiktok.com/@curesyngap1 Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 143 of #Syngap10 - June 18, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

Full show notes: https://syngap.fund/n142 BIG NHS UPDATE 66 Kids evaluated, 11 have had follow-ups, ~20 new kids scheduled. Colorado should start seeing patients in August! WHERE TO DONATE MONEY: MDBR is next week, donate now! https://charity.pledgeit.org/t/jY577u7uMc Thanks to the team. https://Syngap.Fund/Unite BLOOD: June 7 & 8, Loews Coronado Bay Resort, email [email protected] TIME TO JOIN #TEAMSRF - Volunteer Webinar: https://syngap.fund/LT - Fifty families lent their good names to SRF in this wonderful blog: https://syngap.fund/Community - https://curesyngap1.org/volunteer-with-srf/ CHATS WITH INDUSTRY - Is IT delivery a blocker for precision therapies, NO! - 2026 is feeling like the earliest we see trials. - BIO with Kathryn next week! CALENDAR MANAGEMENT Rare Across America is 66 days away, register now: https://everylifefoundation.org/rare-advocates/rare-across-america/ Conference is 188 days away: https://curesyngap1.org/events/conferences/syngap1-conference-2024/ PUBLICATION ALERT https://x.com/cureSYNGAP1/status/1795837761678962799 NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,020 YouTube. https://www.youtube.com/@CureSYNGAP1 - 10,000 Twitter https://twitter.com/cureSYNGAP1 - 3,591 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 49k Insta https://www.instagram.com/curesyngap1/ - 392 TikTok https://www.tiktok.com/@curesyngap1 Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 142 of #Syngap10 - May 31, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

JOIN SRF LT on Thursday: Volunteer Info session with Leadership Team is this week: https://syngap.fund/LT Thursday 5/23 at 5:30 Pacific. MDBR is 3 weeks away! https://Syngap.Fund/Unite $5k match https://x.com/phalliburton/status/1792288377049415835 It’s all about therapies. Precision Genetic and Repurposed. Conferences are where we engage professional communities around SYNGAP1 & SRF. - Last week I was at Milken Global. All diseases are talking about biomarkers & endpoints. https://milkeninstitute.org/events/global-conference-2024/program - This week I was at the #Ultragenyx Bootcamp with our CSO https://www.ultragenyx.com/video-this-bootcamp-helps-parents-advance-rare-disease-research/ So good to see Kathryn energized by this role. - ASGCT was last week and that means announcements… - Kathryn and I are off to BIO in June in San Diego. Ionis for Angelman https://www.linkedin.com/posts/cureangelman_exciting-news-for-the-angelman-syndrome-community-activity-7196872264976322563-_rvX Capsida for STX https://www.linkedin.com/posts/graglia_capsida-biotherapeutics-presents-new-preclinical-activity-7194004214635716608-M01Y Encoded for STX https://www.linkedin.com/posts/stxbp1-foundation_encoded-therapeutics-provides-pipeline-updates-activity-7196942568859787265-leKO Nasha at FOXG1 https://www.youtube.com/watch?v=ELKijSx0uwQ Repurposed therapies are just as important. Cost effective. Globally available. They are here now. We must act, the suffering is immense. They show us what is improvable and therefore inform clinical trial design. They are not compromising other trials. And to even suggest that is unethical if it suggests people should hold off on helping patients. How about we just diagnose more kids? Or think harder about which kids go to which trials? Precision Genetic Therapies are going to be more effective than repurposed drugs, people will happily participate in trials. Review of repurposed drugs: RAVICTI Rx- 10+ patients with Dr. Grinspan, not all but a few have had significant seizure reduction. I remain worried about cost and look to STXBP1 and SLC6A1 for guidance here. NORTRIPTYLINE Rx - Has helped me, a handful of families are getting a Rx. I am hopeful that some researcher does an investigator led trial. But until then, ask your Neuro. ACETYL-LEUCINE is a Nutraceutical - Update 1 has really been noticed and Update 2 will share a few potential mechanisms of action. Many are trying this drug from https://bit.ly/tanganil24 Encouraging… no, updating. Please share data with us if you are trying. We are collecting case studies for Update 3. Thank you to the team here. NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US - 1,010 YouTube. https://www.youtube.com/@CureSYNGAP1 - 9,900 Twitter https://twitter.com/cureSYNGAP1 - 3,560 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 49k TikTok https://www.instagram.com/curesyngap1/ Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 141 of #Syngap10 - May 20, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

Read Jackie’s article on profound autism, be grateful she is an SRF Leader. https://helenjournal.org/april-2024/achieving-equity Watch Brett’s 2 min talk on his son, he’s on your team too. https://x.com/UFDTech/status/1785111914168594894 Look at all these families that raise a quarter million dollars via #Sprint4Syngap 2024 syngap.fund/sprint24 - https://givebutter.com/ALjJXJ - $243k, 844 donors - Kaia’s event was wonderful https://curesyngap1.org/syngap-warriors/kaia/ - Reef’s family also found connection by helping SRF, video coming soon. Conferences are where we engage professional communities around SYNGAP1 & SRF. - Last week Vicky was at WODC. https://www.terrapinn.com/conference/world-orphan-drug-congress-usa/ - This week Heather Mestemaker was at the GG DDC. https://globalgenes.org/event/rare-disease-drug-development/ - Next week I’ll be at Milken Global, it takes a team. https://milkeninstitute.org/events/global-conference-2024/program It takes a village. We need to support efforts to help our kids and accept that the system will always fall short, the need for a strong SRF will only grow. The more we unify, the faster it grows. v1 Drugs - Data - Biomarkers & Endpoints v2 now we add Improve Clinical Care (NHS Expansion & Repurposing) - Build a sustainable organization. NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - 990 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,552 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 9,852 Twitter https://twitter.com/cureSYNGAP1 - 49k TikTok https://www.instagram.com/curesyngap1/ Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 140 of #Syngap10 - May 2, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

SRF is a “Get-to…” not a “Have-to..” Do something & Go big. #S10e139 Talking with John Get vs Have (https://www.youtube.com/watch?v=J5oBo9zcRUE) SRF is the same: - Raise Funds to Change the Future - Volunteer, contribute to a larger effort - Connect with other families - Share our experience to make broader knowledge - Learn from each other and scientists Raise Funds #Sprint4SYNGAP 2024 syngap.fund/sprint24 - https://givebutter.com/ALjJXJ - Newsletter https://mailchi.mp/curesyngap1.org/sprint4syngap?e=8531ca92fd - $197k, 521 donors - See you Saturday, enjoy it. - It’s a get to, people get to support our incredible efforts. Volunteer ACTION IS THE ANTIDOTE TO DESPAIR - Joan Baez - State Reps - May 3rd! - Advocates - Jackie Kancir and Jess Johnson are killing it. - Many other roles - DEI too. Connect with other Families - Jaxon Movie is up https://curesyngap1.org/resources/movies/ - Sprint events. Volunteer. Etc. - Hope drove across the country Fundraiser https://givebutter.com/zDUIfN Reel https://www.facebook.com/reel/421525020629131 Interview https://curesyngap1.org/podcasts/syngap1-stories/ #28 Share our experience to make broader knowledge - FB: www.facebook.com/groups/syngap/ - CHOP is at 99! [email protected] - Cinci is still recruiting too. Info - https://drive.google.com/file/d/1jLAIe6FTNRGlhPZpouDlYJNPv-d6ICNW/view?usp=drive_link; Survey - https://redcap.research.cchmc.org/surveys/?s=4CYCNJ47RCL7HLN8 Learn from each other & scientists - https://curesyngap1.org/podcasts/cafe-syngap1/ - Coming soon: Missense Server is Awesome, Frogs too. - NAL: https://curesyngap1.org/blog/drug-repurpose-update-1-tanganil-acetyl-leucine-for-potential-management-of-syngap1-related-disorder-symptoms/ - Remember new families have resources too! https://syngap.fund/Resources I’m learning too! Just accepted to #LeadersLink of #FasterCures! - Presshttps://milkeninstitute.org/article/leaderslink-cohort-2024-2025-fastercures - X https://x.com/JMGraglia/status/1782778094589460812 - LinkedIn https://www.linkedin.com/posts/graglia_please-join-us-in-welcoming-the-newest-leaderslink-activity-7188548477889449987-DmAX SOCIAL MATTERS - 979 Subscribers on YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,529 Subscribers on LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 9,846 Followers on Twitter https://twitter.com/cureSYNGAP1 Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 139 of #Syngap10 - April 23, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

TOGETHER WE ARE STRONGER - 1,400 strong, thank you Jess & team. https://curesyngap1.org/blog/syngap1-census-2024-update-61-in-q1-2024-total-1400/ - Stoke webinar: one of the most important considerations for deciding which disease to work on was, “…how strong is the patient advocacy group?” - Stoke CMO Barry Ticho, MD, PhD, FACC during webinar 4/2/24 to discuss findings of STK-001 WELCOME AND CONNECT - New parents are coming fast, reach out to them, tell them how much hope to have. - Connect, connect, connect. - San Diego next week: https://curesyngap1.org/resources/movies/jaxon/ - Hope https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/ - TU to Emily Barnes who is at FasterCures meeting today in Boston, see #S10e98 to see my thoughts about this workshop https://www.youtube.com/watch?v=iOLjUdVUtqo TEAM IS GROWING BOARD - https://www.eurekalert.org/news-releases/1038978 CSO - https://www.eurekalert.org/news-releases/1040061 COO - You? PRESS - UK https://www.channel4.com/news/govt-send-funding-boost-still-billions-short-says-tory-mp-with-affected-family/ - GA https://www.gpb.org/news/2024/04/03/80-of-rare-diseases-are-genetic-thats-why-whole-genome-sequencing-can-help/ What does my genetic report mean? We wrote a blog, but as I’ve had this conversation a few dozen times, my answer is simpler now. Is it missense or is it truncating? If missense, do more research, if truncating, it is in the first 4 exons (p. Address of 129 or lower). Who else has it? Look on ClinVar and call SRF. Blog: https://curesyngap1.org/blog/understanding-your-genetic-report-with-syngap1-a-rare-disease/ STUDIES https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/ CHOP: [email protected] Adults: - Press Release: https://www.eurekalert.org/news-releases/1040062 - Study Info: https://drive.google.com/file/d/1tOdodcV7E5ROOHWyLn8a48x1WNBOr-U2/view QOL: https://Syngap.Fund/QOL24 39 and counting. #Sprint4Syngap 2024 Total: $168,572 from 347 people Tavilla: $126,385 from 62 Big thanks to them and all teams especially those already over $1k, Phoebe, Kaia, Louie, Kiera, Theo, Hadley & Gracyn. https://curesyngap1.org/events/featured/sprint4syngap-2024/ https://givebutter.com/ALjJXJ REPURPOSING - NAL, blog coming. - Ravicti, enrolled, and blog on Butyrate coming. - Nortriptyline, has been game changing, discussing a larger trial. REFLECTIONS - Family Medical Leave Act #FMLA https://www.dol.gov/general/topic/benefits-leave/fmla - Homeschooling… again, avoid the kneejerk. See #S10e64 https://www.youtube.com/watch?v=01uhSjxGgGE - Tony update. Grateful and grieving. SOCIAL MATTERS 967 Subscribers on YouTube. https://www.youtube.com/@CureSYNGAP1 3,483 Subscribers on LinkedIn. https://www.linkedin.com/company/18940628/admin/feed/posts/ Socials matters so we can find more people, like this: https://curesyngap1.org/blog/an-emotional-journey-begins-after-a-syngap1-diagnosis/ Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 138 of #Syngap10 - April 4, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

Genetic Therapy Companies (ignoring small molecules, see our pipeline here https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/) Stoke Therapeutics #StokedAboutStoke Presser: https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-landmark-new-data-support-potential I did call this in #S10e111 https://youtu.be/i6EZUrqsn2g?si=RN3SLR2vHCjgAiGt&t=706 This study started in #S10e83 https://www.youtube.com/watch?v=7uK2dCs53Ew Praxis Precision Medicines https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-11 Longboard Pharma https://ir.longboardpharma.com/news-releases/news-release-details/longboard-pharmaceuticals-reports-full-year-2023-financial Studies https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/ CHOP: [email protected] Adults: https://drive.google.com/file/d/1tOdodcV7E5ROOHWyLn8a48x1WNBOr-U2/view QOL: https://Syngap.Fund/QOL24 Fundraisers 247 supporters have us at $79k Team Tavilla is over half of that at $47k Big thanks to them and all teams especially those already over $1k, Phoebe, Kiera, Kaia & Gracyn. Rifton bike for S4S anyone at $500+. 247 Supporters! https://curesyngap1.org/events/featured/sprint4syngap-2024/ https://givebutter.com/ALjJXJ Social Matters 953 Subscribers on YouTube. https://www.youtube.com/@CureSYNGAP1 Socials matters so we can find more people, like this: https://curesyngap1.org/blog/an-emotional-journey-begins-after-a-syngap1-diagnosis/ Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 137 of #Syngap10 - March 26, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

Do this study for UCB: https://Syngap.Fund/QOL24 Two killer publications: Boston - https://www.linkedin.com/posts/graglia_syngap-research-fund-announces-308000-multidisciplinary-activity-7173732255369035776-HC-9 Penn/ENDD - https://www.sciencedirect.com/science/article/abs/pii/S153854422400021X Email Info at CureSYNGAP1 dot org for PDFs! Visit to UCSF - Exciting new proposal and wait for the Wilsey paper! Background: https://www.youtube.com/watch?v=pagFzSmYK8E Repurposing is moving apace! More as we have it. Ravicti. Butyrate. Nortriptyline. Acetylleucine. Sprint4Syngap is our current fundraiser, get in there and join us! https://curesyngap1.org/events/featured/sprint4syngap-2024/ https://givebutter.com/ALjJXJ Sprint4Syngap Total: $33,704. Tavilla Total: $6,695 Nasha Fitter at WH, is a masterclass in advocacy. https://www.linkedin.com/posts/nashafitter_this-rare-disease-day-i-was-invited-to-be-activity-7170089524402802688-50tE Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 136 of #Syngap10 - March 16, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

DC was epic, come next year! - Board Meeting and Leadership Team. - Rare on the Hill - Nancy, John, Vicky, Kathryn, Marta, Suzanne, Jess Johnson! https://www.facebook.com/suzanne.v.jones/posts/pfbid02pMjKxryjDej62FM2RRA6afyU5JPkdB37dXzVrXMLFzjsWmRTQV2wtR3BNaaFcTK4l - Last week of Feb, don’t miss it. #RareBrewCoffee has launched! https://rarebrewcoffee.com/ use code SRF10 Reflecting on the latest Rick Huganir paper - This was in part supported (as acknowledged) by our first grant, 5 years ago we funded 10x that last year. - We are not a Rasopathy! https://x.com/cureSYNGAP1/status/1763644994685153654?s=20 - We need to have Prof. Huganir do a webinar! #DEI #SyngapWhileBlack Nice work Petersen family https://qcitymetro.com/2024/02/23/syngap-1-syndrome-autism-epilepsy-treatment/ State Coordinators and Advocates Sign up - We’re looking for state representatives and state advocates - fill out this form if you’re interested - https://docs.google.com/forms/d/e/1FAIpQLSfPWiyvAPuKif-h2bbMBqUKVLMeOeK-ISehbM9PvnReXMRjZg/viewform - Syngap1 Stories Episode 27 - guest host Jessica Johnson with guest Jackie Kancir - released 3/2. Syngap.Fund/Stories We still do warriors, 198 is from Poland! - https://x.com/cureSYNGAP1/status/1763006900939956252?s=20 - https://curesyngap1.org/syngap-warriors/igor/ - Are you are warrior yet? https://curesyngap1.org/syngap-warriors/ Repurposing - Thought for the week - When you try a new molecule, any new molecule, take notes, videos and pictures. - IF a drug increases cognition, expect frustration, at first. - Make sure you watch episode 134, even if it’s long because I really go deep on repurposing. https://youtu.be/luhVxDEXlcU?si=BUmyKmTkOvFMVN5Z Notes, all on Youtube, make sure you subscribe there - 935 today let’s get to 1,000 https://www.youtube.com/@CureSYNGAP1 List of repurposed drugs: Ravicti® (glycerol phenylbutyrate) - https://www.youtube.com/watch?v=Rwwdifsu1g8 Butyrate - https://www.youtube.com/watch?v=hjl9Z5_uQws NAL - https://www.youtube.com/watch?v=TphYC3o2BJQ Pamelor® (nortriptyline) - https://www.youtube.com/watch?v=z0BdjDaWiMs Fycompa® (perampanel) - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10469904/ Siblings - Order a kit, thank you UCB @UCBUSA https://curesyngap1.org/sibling-support/ Ed’s notes: - Aaron Harding guest on DeafBlind Potter Podcast - "Navigating Life's Challenges: A Journey with SynGAP - An Interview with Aaron Harding" - https://youtu.be/cagNgqmolgk?si=s9vAX1_jl07e4kOY - Jansen Jones, daughter of BOD chair Suzanne, was one of two rare disease children featured in a Rare Disease Day article by Children’s Healthcare of Atlanta - https://drive.google.com/file/d/18lPSXcciyK3OHnSWDXxy1DDVZZvPc-sY/view - Newsletter issue 37 (2/25) includes these and more - https://curesyngap1.org/newsletter/ Scholarship - UCB USA Family Epilepsy Scholarship - Blog - https://Syngap.Fund/UCB24 - Diagnosed with Epilepsy or immediate family member or caregiver - Seeking higher education - Application deadline March 15 https://drive.google.com/file/d/1PtAJfqOUkeXhX2NsyxvkB9A-pEHei5pc/view Fundraising - Get Ready for Sprint - save the date 4/27/24 - sign up your teams now; Rifton is giving away another adaptive tricycle to a team who raises $500+ - Syngap.Fund/Sprint24 https://www.rifton.com/ (12 teams signed up as of 3/2 - we had 28 teams in 2023; already have $26,000+ in donations!!! Still a ways to go before we beat last year’s record.) - MDBR 6/8 - link to 2023 blog https://curesyngap1.org/blog/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration/ - S.Carolina3rd annual Scramble 10/5 - link to past events is here: https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2023/ - 3rd SYNGAP1 Conference, hosted by SRF in LA - Pre-register to receive updated info when it’s ready https://Syngap.Fund/24Pre - Planning committee needs volunteers; if interested in helping, contact [email protected] #SyngapConf Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 135 of #Syngap10 - March 3, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

#S10e96 - https://www.youtube.com/watch?v=MkCKK4Z7J2I Rochester - Check. I asked in #S10e132 to do this and you stepped up, thank you. We hit 200! Aparito time Fill this in: https://forms.gle/4EsW3wu8BG4TQrD7A The intersection of biomarkers and repurposing: The latter could help us figure out which of the former to focus on which could be the difference between a drug making it. Repurposing: Friend message - “And I wanted to tell you about the worsening behavior with treatments: a friend of mine has a son with Dravet syndrome, and many years ago they started him on a drug that reduced the seizures quite a bit, and my friend used to say “with this new treatment cleaning his brain from all those EEG interferences, we are starting to see more of his personality… and we’ve realized that we don’t like him”. Very harsh but very real to say” Morning Video SM vs ASO vs AAV https://www.youtube.com/watch?v=-xp3kTsBz38 List of repurposed drugs: Ravicti® (glycerol phenylbutyrate) - https://www.youtube.com/watch?v=Rwwdifsu1g8 Butyrate - https://www.youtube.com/watch?v=hjl9Z5_uQws NAL - https://www.youtube.com/watch?v=TphYC3o2BJQ Pamelor® (nortriptyline) - https://www.youtube.com/watch?v=z0BdjDaWiMs Fycompa® (perampanel) - Need to have a webinar on this. Fycompa ® story from middle market country, Fycompa + Depakine + Risperadone. Wow. Ethics. Is it ethical to sit back and let our kids suffer? Thank you to Virginie who is helping with EEG grant and volunteers, we have her back from ciitizen! Thank you to those working on CZI grant too! Congratulations to Encarnation and the SYNGAP1 European Team for this coverage https://english.elpais.com/health/2024-02-12/unraveling-the-mystery-of-celias-inexplicable-disease.html Ed said: Syngap1Stories Episode 26 guest Paulina Polanco - released 2/13. Includes her Family Day talk in Orlando. Syngap.Fund/Stories Cafe Syngap1 Episode 11 guest Claudio Diaz - released 2/17 Syngap.Fund/Cafe Get Ready for Sprint - save the date 4/27/24 - sign up your teams now; Rifton is giving away another adaptive tricycle to a team who raises >$500 - Syngap.Fund/Sprint24 https://www.rifton.com/ (9 teams signed up as of 2/23 - we had 28 teams in 2023;) Orlando Family Day VideosUploaded to YouTube (https://www.youtube.com/playlist?list=PLjpr3a14_ls3PKu4oB_aeU_tfyYLE6-jj) Added to Paulina’s blog recap of the day (https://curesyngap1.org/blog/syngap1-family-day-2023-a-beacon-of-hope/); Videos include Science Day Recap as well as a separate video of Mike’s recap on “Where are we now?”, a summary of how parents can prepare for what’s coming in the next couple of years (https://youtu.be/-xp3kTsBz38?si=_qHKRsYz2uJDJR_F). SYNGAP1 Conference 2024 hosted by SRF - planning committee will start meeting soon; if interested in helping, contact [email protected] #SyngapConf SYNGAP1 Sibling Shanaye, a High School senior, is using her platform as the 2023 Hodgeman County Miss Teen Pageant winner to spread the word about SYNGAP1, which affects her younger sister Addison.YouTube Video - https://youtu.be/4L32aPNMSeM?si=EqNEhROdzvfGZxEQ Addison’s Warrior Story - https://curesyngap1.org/syngap-warriors/addison/ We teamed with Simons Searchlight for their annual Shine Your Searchlight Campaign - if you’re not signed up with Simons yet, sign up now - https://www.simonssearchlight.org/ Sydney & Sandy in S. Africa for Rare-X Rare Disease Conference - https://x.com/sandysmith317/status/1757669120928047520?s=20 We’re looking for state representatives and state advocates - fill out this form if you’re interested - https://docs.google.com/forms/d/e/1FAIpQLSfPWiyvAPuKif-h2bbMBqUKVLMeOeK-ISehbM9PvnReXMRjZg/viewformState Representatives - provide a point of contact for SYNGAP1 families (especially newly diagnosed) in your state to assist with information about registries, studies, fundraising, and other resources State Advocates - help families in your state navigate difficult systems (education, healthcare, state services, legal, etc.) Upcoming Rare Disease Day - join us in DC; two blog posts:Rare Disease Day 2024 - what is it and how can you help SYNGAP1? You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill #S10e96 - https://www.youtube.com/watch?v=MkCKK4Z7J2I Fundraising Getting organized:MDBR 6/8 - link to 2023 blog https://curesyngap1.org/blog/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration/ 2nd annual Golf Tourn in Canada 6/8 CFTC early-mid Sept? Link to past events is here: https://curesyngap1.org/events/fundraisers/cannonball-for-the-cure/ 3rd annual Scramble 10/5 - link to past events is here: https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2023/ 4th annual SRF Gala honoring Caren Leib 10/18 - link to past events is here: https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/ 3rd SYNGAP1 Conference, hosted by SRF in LA - pre-register to receive updated info when it’s ready https://Syngap.Fund/24Pre Podcasts, give all of thes

A. MRD5 - https://www.ncbi.nlm.nih.gov/medgen/382611 B. SYNGAP1 NSID - https://pubmed.ncbi.nlm.nih.gov/21237447/ (Hamdan, 2011) C. SYNGAP1 NDD - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128754/ (Kilinc, 2011) D. Confusing https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.37189 (Parker, 2015) De Novo, Heterozygous, Loss-of-Function Mutations in SYNGAP1 Cause a Syndromic Form of Intellectual Disability E. SYNGAP1 DEE - https://pubmed.ncbi.nlm.nih.gov/30541864/ (Vlaskamp, 2019) F. SYNGAP1 Related-ID - ICD-10 & Hopkins - https://www.pnas.org/doi/abs/10.1073/pnas.2308891120 (Araki 2023) - https://curesyngap1.org/blog/syngap1-assigned-its-own-icd-10-code-f78-a1-srf/ (ICD-10, 2021) G. SYNGAP1 Related Disorders - https://www.chop.edu/conditions-diseases/syngap1-related-disorders H. SYNGAP1 Syndrome - ICD-11 - https://twitter.com/cureSYNGAP1/status/1730629792137883800 (2024) My vote (today) is that we have a disease that is a DEE called SYNGAP1 Related Disorders (SRD). These monogenic disorders are anything but monolithic. Disease vs. Syndrome, read this: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1480257/ (Cavalo, 2003) A syndrome is a recognizable complex of symptoms and physical findings which indicate a specific condition for which a direct cause is not necessarily understood...Once medical science identifies a causative agent or process with a fairly high degree of certainty, physicians may then refer to the process as a disease, not a syndrome. NDD vs DEE - We are a DEE “Neurodevelopmental disorders (NDD) encompass highly prevalent conditions such as autism and epilepsy, with cognitive disabilities alone affecting 1-3% of the global population. Developmental epileptic encephalopathies (DEE) are NDD characterized by epilepsy and delayed development or loss of developmental skills. Although the prevalence of DEEs remains to be determined, studies estimate that single-gene epilepsies occur in around 1 in 2100 births annually.” https://medicalxpress.com/news/2022-12-neurodevelopmental-epilepsy-disorder-genetic.html Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 133 of #Syngap10 - Feb 13, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

TWO Gene therapy INDs approved in the past week! JAG201 for SHANK3 https://pmsf.org/breaking-news-from-jaguar-gene-therapy/ ETX101 for SCN1A https://encoded.com/press-releases/encoded-therapeutics-announces-us-ind-clearance-and-australian-cta-approval-for-dravet-syndrome-gene-therapy-candidate-etx101/ Mike’s Gene Therapy Cheat Sheet https://docs.google.com/spreadsheets/d/1jwH5piRH9gOmylz-pCNd_DFnpEHJ6EkFyoaMjidBk6c/edit?usp=sharing TAKE THE ROCHESTER SURVEY https://redcap.link/NDDCaregiverSurvey SPRINT FOR SYNGAP24 is on! https://Syngap.Fund/Sprint24 APARITO ANNOUNCEMENT LI - https://www.linkedin.com/feed/update/urn:li:share:7157828674245783552/ X - https://x.com/cureSYNGAP1/status/1751969751621046667 FB - https://www.facebook.com/cureSYNGAP1/posts/pfbid07mabzGJhcZZZkm3vUy9EkZutAtTL16y4gytED52Xyzjayp3ew62zEXiDA8aEsuYWl This is the program: https://www.aparito.com/patient-group-programme/ RAVICTI GROUP https://www.facebook.com/groups/butyrate/ Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 132 of #Syngap10 - February 6, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

SYNGAP1 is complex, we need to partner with our clinicians to improve care & get ready for repurposing. #S10e131 Three patient stories… with the same conclusion, we don’t know enough about this disease. - VNS, very few meds. If that is appealing, look for the VNS parents. www.facebook.com/groups/syngap1vns/ - Little lady on Kepra finally getting a new drug. - Big man getting really odd care, based on EEG These kids are so complicated and the system is just not ready. We can help by supporting the studies I mentioned in #S10e128 1 - NEW!!! GLOBAL - Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey 2 - GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. [email protected] 3 - GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. [email protected] 4 - USA: https://ciitizen.com/syngap1/srf/ as always! This data is critical and being used by multiple partners. Sign up/refresh! 5 - USA, East of the mountains: [email protected] free natural history study! #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado. Please get in there ASAP. 6 - Texas: QEEG at Cook Childrens. Email Corey. All studies are on https://curesyngap1.org/studies/ REPURPOSING Also, repurposing is coming fast. 4PB is going into kids in the US and doctors in the Netherlands, Poland and Turkey are paying attention. We have a hit from Chow that we are validating. Rarebase validation is coming soon… The question is how and what to measure. The other question is cost, stay tuned here. Grinspan https://youtu.be/Rwwdifsu1g8?si=jZSIiguKLMJv5nSh Rarebase https://youtu.be/z0BdjDaWiMs?si=eTNo0R7kG321XQ8_ Chow https://youtu.be/TphYC3o2BJQ?si=_W66T0SqzE0AQJWm I’m heading to PMWC tomorrow, really excited to share about SYNGAP1 with Justin, Yael and Nasha. https://pmwcintl.com/session/gene-and-cell-therapies-in-rare-diseases-track_2024sv New Things to Know about! CHANGES STUDY New study in Edinburgh - “Changes Study” - Sydni Weissgold & Dr. Andrew Stanfield with Patrick Wild Centre, the University of Edinburgh - questionnaires, interview, & EEG on child; ages 2-15 with SYNGAP1 diagnosis or no neurodevelopmental diagnosis (for comparison); test is in Edinburgh, follow-up 1 year later Changes Study - https://drive.google.com/file/d/1GQDl2qFHy0AH1I_z9Fl98wESdnurJPwO/view All Studies: https://curesyngap1.org/studies/ UCB USA Family Epilepsy Scholarship - https://Syngap.Fund/UCB24 Application deadline March 15 Same org that is giving away Sibling & Caregiver support kits - https://curesyngap1.org/sibling-support/ New blog about our YouTube channel & what you’ll find there - https://Syngap.Fund/YT24 - 368 videos organized into 25 channels - S10, 5 years of Roundtables (Engl & Span), Events, Caren, hidden gems from long ago Rare Disease Day What is Rare Disease Day & why is it the last day in February? You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill Fundraising Get Ready for Sprint - save the date 4/27/24 Getting organized: MDBR 6/8 2nd annual Golf Tourn in Canada 6/8 3rd annual Scramble 10/5 4th annual SRF Gala honoring Caren Leib 10/18 3rd SYNGAP1 Conference, hosted by SRF in LA - pre-register to receive updated info when it’s ready https://Syngap.Fund/24Pre New webpage - Ways to Give - small ways to encourage our network to give to SRF to fund research: https://Syngap.Fund/Ways Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 131 of #Syngap10 - January 23, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

All week on an article (coming soon), but still time to… Meet a couple of new parents, hi Stacey Miller. Conf planning for LA is ON! Stacey will be heading to Stanford. https://curesyngap1.org/events/conferences/syngap1-conference-2024/ See Corey's trip to NYC. You need countable seizures to participate. Watch his talk at the conf.https://youtu.be/Rwwdifsu1g8 Talk to STXBP1 about Natural History Studies. This is something we need to think about together. e.g. a consensus protocol could save us a placebo arm. PubMed count is up to 2 for 2024, now a story from China. https://pubmed.ncbi.nlm.nih.gov/38171555/ Ed's been busy! Cafe Syngap Episode 8 went live https://curesyngap1.org/podcasts/cafe-syngap1/ Conference Family Day Recap by Paulina Polanco https://curesyngap1.org/blog/syngap1-family-day-2023-a-beacon-of-hope/ Conference Science Day Presentation Videos are being added to the blog (both English & Spanish versions, though videos are only available in English); soon they’ll all be added to the blog as well as on YouTube https://curesyngap1.org/blog/syngap1-conference-2023-science-day-a-summary/ https://www.youtube.com/watch?v=dsztjHbsR38&list=PLjpr3a14_ls0mKD_Z6xD0vYHt2JtJ1YBD Studies - Rochester (need 100 more) https://drive.google.com/file/d/1w35jLJRZC3zCviyCHNHCFeh0dETctzLA/view CHOP/ENDD (need 50 more) https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view Newsletter #36 out Saturday AM Jan 6 https://mailchi.mp/syngapresearchfund.org/2023recap Resolutions for 2024 https://docs.google.com/document/d/1D-vTe_lH2iyfmu-5DobGx0hT2x7XGwx-WNcW8ElwDBg/edit Attend a conference or two (pre-register for Los Angeles) https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Write a blog, make a movie, share your Warrior’s story, be a guest on Stories or Cafe (contact [email protected] or [email protected]) Upcoming Webinar #86 James Goss (Five Years of Funding Innovative Research for SYNGAP1) link https://Syngap.Fund/Five Jan 18, 12:00 ET, 9:00 PT Rare Disease Day - join us in DC; two blog posts: What is Rare Disease Day & why is it the last day in February? https://curesyngap1.org/blog/what-is-rare-disease-day-why-is-it-the-last-day-in-february/ You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill https://curesyngap1.org/blog/you-should-represent-syngap1-during-rare-disease-week-on-capitol-hill/ Sign up for the studies I mentioned in #S10e128 1 - NEW!!! GLOBAL - Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey 2 - GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. [email protected] 3 - GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. [email protected] 4 - USA: https://ciitizen.com/syngap1/srf/ as always! This data is critical and being used by multiple partners. Sign up/refresh! 5 - USA, East of the mountains: [email protected] free natural history study! #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado. Please get in there ASAP. 6 - Texas: QEEG at Cook Childrens. Email Corey. All studies are on https://curesyngap1.org/studies/ Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 130 of #Syngap10 - January 12, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

I talked about Longboard in #S10e71 (August 2022) https://www.youtube.com/watch?v=iPoOjKBwPfY, and e65 and e67. Here is the data: https://ir.longboardpharma.com/news-releases/news-release-details/longboard-pharmaceuticals-announces-positive-topline-data Conf was really good, I got feedback from Industry today with a great idea: Theater program for trial recruitment. Not too early to pre-register for LA! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Publications matter, we have 44 in 2023 which is a record, if we keep growing we should have 1 a week! (But it's never linear.) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&sort=pubdate Guess what the first pub in 2024 is about, CBD! https://www.linkedin.com/feed/update/urn:li:activity:7148489940832505857 This reminds me of a crazy story I heard this week, I need to share: Dr. won't add Clobazam Dr. pulled rec for CHOP with silly argument, Why he was wrong:QEEG is different Experts are experts and too few IRB approved studies gather data in a consistent way and help identify endpoints. Year in Review - we are moving mountains: https://curesyngap1.org/blog/srf-syngap1-the-year-in-review-2023/ Tony Update, 10 tomorrow. It's been a rough year MVSD has failed spectacularly All the schools are full and the one that wanted to grow, can't. Sign up for the studies I mentioned in #S10e128 1 - NEW!!! GLOBAL - Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey 2 - GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. [email protected] 3 - GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. [email protected] 4 - USA: https://ciitizen.com/syngap1/srf/ as always! This data is critical and being used by multiple partners. Sign up/refresh! 5 - USA, East of the mountains: [email protected] free natural history study! #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado. Please get in there ASAP. 6 - Texas: QEEG at Cook Childrens. Email Corey. All studies are on https://curesyngap1.org/studies/ (edited) Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 129 of #Syngap10 - January 5, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Over the break: Studies to do, Research & Press to read, Funds to raise, Resources to update, Resolve to Volunteer #S10e128 A few studies to make sure you are in over the holidays! One brand new! NEW!!! GLOBAL - Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. [email protected] GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. [email protected] USA: https://ciitizen.com/syngap1/srf/ as always! This data is critical and being used by multiple partners. Sign up/refresh! USA, East of the mountains: [email protected] free natural history study! #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado. Please get in there ASAP. Texas: QEEG at Cook Childrens. Email Corey. All studies are on https://curesyngap1.org/studies/ Research Matters: Severe behavior problems in SYNGAP1-related disorder: A summary of 11 consecutive patients in a tertiary care specialty clinic - Free download until 2.1.24 1 with this link! https://authors.elsevier.com/c/1iFXZ5Qt1G-z5i - Webinar with 1st Author Ben Thomas coming in 2024! 43 Papers on Pubmed to date! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2023-2023&sort=pubdate Fundraising - Let’s get to $2M! Give Up Your Cup - https://Syngap.Fund/GUYC23 Hope for Harper is a great success - Thank you Justin and Ashley https://syngap.fund/harper Reminder on resources: Resources for Newly Diagnosed Families - https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families/ Tell your Warrior Story - [email protected] Volunteer - https://curesyngap1.org/volunteer-with-srf/ New Sibling Page - https://curesyngap1.org/syngap-siblings/ Great Press Lately - Suzanne! https://www.atlantanewsfirst.com/2023/12/21/georgia-parents-raising-awareness-their-daughters-rare-genetic-disorder/ Exciting! https://www.thetransmitter.org/spectrum/syngap1-findings-illuminate-links-between-mutations-intellectual-disability/ More on Organoids… https://news.wisc.edu/stem-cell-technology-developed-at-uw-madison-leads-to-new-understanding-of-autism-risks/ Chicagoland… https://phys.org/news/2023-11-approaches-gene-insufficiency.html Pods to catch up on! Cafe Syngap1 Episode 7 is live! https://podcasts.apple.com/us/podcast/episodio-07-marisol-parra-y-su-hija-isabella-desde/id1705809525?i=1000638623895 The Juggle is Real Episode 211 of Once Upon A Gene (also seen in episode 41 and 94!) https://effieparks.com/podcast/episode-211-the-juggle-is-real Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 128 of #Syngap10 - December 22, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

12/28/20 - SRF Blog - https://curesyngap1.org/blog/10-reasons-we-chose-ciitizen-for-the-syngap1-digital-natural-history-study-srfdociitizen/ 9/7/21 - Invitae Press Release Acquisition - https://ir.invitae.com/news-and-events/press-releases/press-release-details/2021/Invitae-to-Acquire-Ciitizen-to-Strengthen-its-Patient-Consented-Health-Data-Platform-to-Improve-Personal-Outcomes-and-Global-Research/default.aspx 9/20/22 - Praxis uses ciitzen data for FDA submission for SCN2A https://www.prnewswire.com/news-releases/invitaes-real-world-ciitizen-data-utilized-in-praxis-precision-medicines-prax-222-ind-filing-301627677.html 10/25/23 - Pre-print of paper on SCN2A EEG Biomarker where ciitizen was involved https://www.medrxiv.org/content/10.1101/2023.10.24.23296360v1 12/1/23 - AES Poster - https://x.com/JillianLMcKee/status/1731420167672942878/ 12/13/23 - Invitae Press Release Divest - https://ir.invitae.com/news-and-events/press-releases/press-release-details/2023/Inv[…]h-Data-Platform-and-Implements-Further-Cost-Cuts/default.aspx 12/13/23 - Ciitizen Announcement - https://www.ciitizen.com/announcement/ Dream Team https://www.linkedin.com/in/nashafitter/ https://www.linkedin.com/in/faridvij/ https://www.linkedin.com/in/elli-brimble-82774798/ https://www.linkedin.com/in/deven-mcgraw-6650285/ Hope for Harper is still going, help us meet the $15k match! https://syngap.fund/harper https://givebutter.com/uNxleH The Juggle is Real Episode 211 of Once Upon A Gene (also seen in episode 41 and 94!) https://effieparks.com/podcast/episode-211-the-juggle-is-real Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 127 of #Syngap10 - December 14, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Today a SYNGAP1 patient was dosed with 4PB. Thank you Dr. Grinspan! Have you seen our new site? Thx Ed, Dan and team! www.cureSYNGAP1.org Finances, we have two years of audited financials on https://curesyngap1.org/finances/ There are two reviews of the SYNGAP1 Conference and one of AES you need to read S1 https://curesyngap1.org/blog/syngap1-conference-2023-science-day-a-summary/ S1 https://www.draccon.com/dracaena-report/syngap2023 AES https://www.draccon.com/dracaena-report/aes2023 End of year Giving is afoot! Give up your cup https://givebutter.com/Iuwfzd Albrecht Match https://givebutter.com/uNxleH aka Syngap.Fund/Harper General Giving https://curesyngap1.org/donate/ Sign up for Adult Study led by Dr. Andrade, if you loved one is 17 or over please email [email protected] Sign up for NET Study, email [email protected] check out #S10e122 and the #SRFFrazier Release if you are not up to date! https://www.eurekalert.org/news-releases/1006753 Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 126 of #Syngap10 - December 12, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

ICD-11 = LD90.Y #LD90Y https://x.com/cureSYNGAP1/status/1730629792137883800 Adult paper and study https://x.com/AledoNeuro/status/1726206128390848604 AES - Lots of SYNGAP1 incl paper with ciitizen data https://x.com/JillianLMcKee/status/1731420167672942878 RT23 - Science: Repurposing, VUS, Genetic Tx & Biomarkers - Chow https://x.com/CNSdrughunter/status/1730233903602872424 - VUS https://x.com/CNSdrughunter/status/1730268276989571512 - Genetic Therapies https://x.com/dretico/status/1730298959824875741 FD23 - 60 Families from 16 Countries. Awesome leadership. Sign up for Adult Study led by Dr. Andrade, if you loved one is 17 or over please email [email protected] Sign up for NET Study, email [email protected] check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning) https://www.eurekalert.org/news-releases/1006753 Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 125 of #Syngap10 - December 6, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Giving Tuesday, #SyngapConf, #FasterCures & Happy Thanksgiving - #S10e123 Giving Tuesday - 11/28/23 - https://Syngap.Fund/GT23 #SyngapConf https://Syngap.Fund/RT23 To help onsite with set up, registration, or anything else, contact Ashley ([email protected]), Kali ([email protected]), Corey ([email protected]) or Ed ([email protected]) or see them in Orlando! FasterCures https://www.harpercollins.com/products/faster-cures-michael-milken?variant=40641765802018 Bravo to Jess Johnson & EAN https://moco360.media/2023/11/17/new-moco-based-organization-brings-advocacy-for-epilepsy-funding-to-congress/ Amazing paper out from USC https://stemcell.keck.usc.edu/autism-linked-gene-syngap1-could-impact-early-stages-of-human-brain-development/ Sign up for NET Study, email [email protected] check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning) https://www.eurekalert.org/news-releases/1006753 Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 124 of #Syngap10 - November 18, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Three Todos: 1 - Come to the #SRFconf and be sure to buy dinner tickets! https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund 2 - DC Families, go to this 11/14 event EAN matters: https://shoutout.wix.com/so/c7OkLF5nz 3 - Sign up for NET Study, email [email protected] check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning) https://www.eurekalert.org/news-releases/1006753 EEGS MATTER To get an EEG Biomarker, you need to collect EEGs. Not simple. This eg from Angelman in 2021. (Syndrome defined in 1965, UBE3A in 1997) https://www.sciencedirect.com/science/article/pii/S2667174321000380 Check out this 2023 example for SCN2A (gene 1989, patient 2001) https://www.medrxiv.org/content/10.1101/2023.10.24.23296360v1 SYNGAP1 (gene 1998 Huganir, patient 2009 Michaud) Where’s our paper? Beacon Biosignals is a company we know: https://beacon.bio/ You are entitled to a copy of your medical records under HIPAA and they have 30 days to get it to you. https://www.hhs.gov/hipaa/for-professionals/faq/right-to-access-and-research/index.html EEGs (in .edf format) are much bigger than the rest of your medical records (pdf and images). Check out Tony’s https://drive.google.com/drive/folders/1vUMRMtnvTJJi7WEwcSrDSLArGL3vzFxH?usp=sharing Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 123 of #Syngap10 - November 3, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Study Invitation - Everyone with a laptop can help us make an easy at home validated measure to de risk clinical trials. Sign up now for this #SRFunded effort - #S10e122 #SRFFrazier We need endpoints and assessment tools. We can help make it happen with this study. Let’s get to 100 participants. #SRFFrazier Grant 1 https://www.prnewswire.com/news-releases/syngap-research-fund-announces-srffrazier-grant-to-dr-thomas-frazier-of-john-carroll-university-301219503.html How to join study! https://drive.google.com/file/d/1rbJ1zwX3UVDJzWq2oa8fWKL--Wik4gF-/view?usp=drive_link Two papers already!! Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndrome https://pubmed.ncbi.nlm.nih.gov/37045800/ Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes https://pubmed.ncbi.nlm.nih.gov/37534867/ Raise funds for SYNGAP1 Research via SRF https://syngap.fund/give https://syngap.fund/gt23 > https://givebutter.com/SwK5Gt Register for the Dinner & Conference! 29 Days until the Conference - Join us! https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund #SyngapConf Conference Agenda! #S10e120 described the agenda… https://www.youtube.com/watch?v=Q9U-Ggz_K2I Detailed Agenda is here https://drive.google.com/file/d/1iKD-ZpDICXcaU85oBj0uWVVWuGrLJWJl/view Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 122 of #Syngap10 - November 1, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

“The grant will fund the computational analysis of SYNGAP1 missense variants and the construction of an online server called SynGAP Missense (SGM) server providing clinicians and others open access to the modeling and bioinformatics results.” Types of mutations https://youtu.be/xYOK-yzUWSI SYNGAP1 on Alphafold https://alphafold.ebi.ac.uk/entry/F6SEU4 Dr. Underbake on Disordered/Unstructured Proteins https://youtu.be/Q11q_m_tV88?si=Ix9Gr7RSiCdFCgqH&t=830 Common Missense https://www.syngapresearchfund.org/post/syngap1-frequent-de-novo-missense-variant-alert-study-opportunity-for-p-gly344 Young c.980T>C p.Leu327Pro http://clinvar.com/ SYNGAP1 c.980C>T 2015 UK https://pubmed.ncbi.nlm.nih.gov/26079862/ 2018 SK https://pubmed.ncbi.nlm.nih.gov/29390993/ SRF iPSCs https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments Dr. Courtney Grant https://www.eurekalert.org/news-releases/957967 Dr. Courtney Webinar https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations Dr. Haas Webinar https://www.syngapresearchfund.org/webinars/functional-assessment-of-missense-variants-of-syngap1-kurt-haas EpiMVP https://epimvp.med.umich.edu/ https://leonandfriends.org/ started this work https://www.syngapresearchfund.org/leon #S10e73 https://www.youtube.com/watch?v=FJgXP4l0cuk Register for the Conference! 35 Days until the Conference - Sign up by Halloween. https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2023-hosted-by-syngap-research-fund-srf #SyngapConf Conference Agenda Announced! #S10e120 described the agenda… https://www.youtube.com/watch?v=Q9U-Ggz_K2I Press release https://www.syngapresearchfund.org/post/uniting-for-progress-the-fifth-annual-syngap1-conference-hosted-by-syngap-research-fund-srf-will-take-place-november-30th-in-orlando-florida-syngapconf Give all three of our podcasts 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 121 of #Syngap10 - October 25, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

#SyngapConf Conference Agenda Announced! https://www.syngapresearchfund.org/post/uniting-for-progress-the-fifth-annual-syngap1-conference-hosted-by-syngap-research-fund-srf-will-take-place-november-30th-in-orlando-florida-syngapconf Register for the Conference! 37 Days until the Conference - Sign up by Halloween. https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2023-hosted-by-syngap-research-fund-srf Dinner is Separate - Join us! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2023-caregiver-dinner Nancy is a gem https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-020-nancy-kessler Gala was a huge success https://www.syngapresearchfund.org/families/caren-leib-gala-syngap-research-fund #PCEM2023 was fun https://x.com/Science_Hood/status/1716471587275227389 Vicky’s at #BIOPatientSummit23 https://x.com/VickyAArteaga/status/1716506175024361836 https://x.com/VickyAArteaga/status/1716176260244611354 Give us 5 stars everywhere. https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 120 of #Syngap10 - October 24, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

My trip summary to CHOP. Melissa and her family are remarkable. “Doing this for the next generation.” Why are we afraid to hope? Because fear is winning. Everything comes from Fear or Love. Focus on the love. Feed that one. https://www.demellospirituality.com/love-or-fear/ https://www.urbanbalance.com/the-story-of-two-wolves/ #UFDCure Cannonball - October 4-6 $128,075.83 so far at 83.6% https://www.youtube.com/watch?v=ilnPIwVy6oY https://www.syngapresearchfund.org/cannonball https://x.com/UFDTech/status/1711488218636357818?s=20 Scramble - October 7, 2023 Have you read the Syngap Story on Julie yet? 52 Days until the Conference - Sign up by Halloween - We need head counts. Registration & Hotels Conference and Wild Type Shirts: Share your time and blood too! Sign up for ciitizen! Sign up for CHOP! Volunteer! Give us 5 stars everywhere. Like Apple podcasts! This is a podcast subscribe! Episode 119 of #Syngap10 - October 9, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

#SyngapCensus https://www.syngapresearchfund.org/post/syngapcensus-2023-update-59-in-q3-2023-total-1-297 #UFDCure Cannonball - October 4-6 https://www.syngapresearchfund.org/cannonball Effie on CBall https://effieparks.com/podcast/effisode-074-syngap-cannonball-for-a-cure Pre-party https://x.com/UFDTech/status/1709366677261987862 Scramble - October 7, 2023 Stories https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-019 Site https://www.syngapresearchfund.org/families/scramble-for-syngap-syngap-research-fund PRAX-222 & ciitizen Marcio https://youtu.be/ibgINIFPFRk?si=Rtxe3rlTUWdMYGvg Pressers 9/20 https://www.prnewswire.com/news-releases/invitaes-real-world-ciitizen-data-utilized-in-praxis-precision-medicines-prax-222-ind-filing-301627677.html 10/2 https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-portfolio-update-2023-rd-day #mustread Essay by Jennifer: https://effieparks.com/blog/2023/9/30/sometimes-there-is-no-silver-lining Book: https://www.amazon.com/Self-Compassion-Proven-Power-Being-Yourself/dp/0061733520/ Wild Type Campaign https://www.bonfire.com/wild-type-syngap1-1/ Conference - Sign up by Halloween - We need head counts. Registration link: https://Syngap.Fund/Orlando Hotels: https://Syngap.Fund/2023hotel Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/ Share your time and blood too! Sign up for ciitizen! Sign up for CHOP! Volunteer! Give us 5 stars everywhere. Like Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Episode 118 of #Syngap10 - October 3, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

CALLS TO ACTION Plan on Rare on the Hill - Week of February 25th in DC Watch #S10e96 https://www.youtube.com/watch?v=MkCKK4Z7J2I Timeline https://everylifefoundation.org/rare-advocates/rare-disease-week-2023/rare-disease-week-agenda-2024/ Apply for support https://www.surveymonkey.com/r/CJPHMS9 Take this surveySurvey https://unmcmmi.co1.qualtrics.com/jfe/form/SV_bxObDOAeWxesIBM Tweet https://x.com/PedsGCAbby/status/1706446478904811750 Great papers Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders https://x.com/cureSYNGAP1/status/1706770818703953955 Context-dependent hyperactivity in syngap1a and syngap1b #zebrafish #autism models https://x.com/cureSYNGAP1/status/1706772916543893597 Sensorimotor Integration Supporting Perception Requires Syngap1 Expression in Cortex https://x.com/cureSYNGAP1/status/1707475941348540894?s=20 We’re at 248 before the BioRxiv https://x.com/cureSYNGAP1/status/1707516877558501652?s=20 Watch the Epic Stanfield Webinar - Behaviour, Cognition and Sensory Processing in People with SYNGAP1 https://www.syngapresearchfund.org/webinars/82-behaviour-cognition-and-sensory-processing-in-people-with-syngap1 Sign up for the next one 10/26 12PM ET Bryan Dickinson, PhD Webinar on Oligos that target translation to restore SYNGAP1 levels https://www.syngapresearchfund.org/webinars/83-oligos-that-target-translation-to-restore-syngap1-levels ILAE Interview on MAD https://www.ilae.org/journals/epigraph/epigraph-vol-25-issue-3-summer-2023/research-recap-modified-atkins-diet-and-health-related-quality-of-life-dr-magnhild-kverneland More Recent Killer Content Elle (Mickey) Sanderson Special Monthly Zoom Meeting on being an advocate; https://www.youtube.com/watch?v=B1sTsYAfaoA Café SYNGAP1 dropped 2nd episode 9/27 with Juanita Polanco https://www.syngapresearchfund.org/cafe-syngap1-podcast/cafe-syngap1-episode-02 - next episode 10/5 Simons quarterly report (links to summary, full report, video to help understand charts). Sign up https://www.simonssearchlight.org/research/what-we-study/syngap1/ Upcoming Amazing Events Cannonball starts Wednesday 10/4-10/6; Brett, Peter, Monica & Reece (works with Brett) $65,000 in giveaways! Live-stream link will be available soon https://www.syngapresearchfund.org/cannonball Scramble 10/7 Julie Miles in Travelers Rest, SC; she is guest on SYNGAP1 Stories dropping Tues 10/3 - https://www.syngapresearchfund.org/families/scramble-for-syngap-syngap-research-fund; link to Stories - https://www.syngapresearchfund.org/syngap-stories Park City Epilepsy Mtg 10/15 - 10/17; Mike & JR 10/18 - Mike keynote at The Enabling Patient Access to Health Data for Actionable Results virtual event by the Office of the National Coordinator for Health Information Technology (ONC) and Centers for Medicare and Medicaid Services (CMS) Gala 10/21 https://www.syngapresearchfund.org/families/caren-leib-gala-syngap-research-fund Conference - Sign up by Halloween - We need head counts. - Registration link: https://Syngap.Fund/Orlando - Hotels: https://Syngap.Fund/2023hotel - Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/ Share your time and blood too! - Sign up for ciitizen! - Sign up for CHOP! - Volunteer! - Give us 5 stars everywhere. Like Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Episode 117 of #Syngap10 - September 29, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Congrats to… - Allan Blake on his airborne fundraiser for SRF UK - Aaron and Monica Harding on their Military Lifegiver Podcast (start at 7 minutes) - Beacon on their FDA approval on the Sleep Headband Dream 3S - Soiree 8/26 - $300K net raised by Suzanne - Katrien on the ILAE #SYNGAP10 #S10e115 Webinar coming up: Behaviour, Cognition and Sensory Processing in People with SYNGAP1 Register: https://us02web.zoom.us/webinar/register/WN_tXX0ZKcgQqm9heZgf0AfDg Sept 28 @ 9am PT/ 5pm GMT Still a classic: Mike to FDA on SYNGAP1 For ORCA https://www.youtube.com/watch?v=AObE7NhSlmg&t=447s Events to mention in SYNGAP10 - Global Genes, DEI - 9/18 - 9/23 - Vicky and Mike - 2nd Scientific Conference in Spanish (virtual) 9/23 - Cannonball 10/4-10/6; Brett, Peter, Monica & Reece listen to Stories Episode 12 MH! - Scramble 10/7 Julie Miles https://syngap.fund/scramble - Park City Epilepsy Mtg 10/15 - 10/17; Mike, JR - Gala 10/21 Nancy Kessler https://syngap.fund/CLG3 - Conference 11/30 & 12/1 + Sea World or Disney 12/2 Conference - Sign up by Halloween - We need head counts. - Registration link: https://Syngap.Fund/Orlando - Hotels: https://Syngap.Fund/2023hotel - Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/ Share your time and blood too! - Sign up for ciitizen! - Sign up for CHOP! - Volunteer! Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069) - Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 116 of #Syngap10 - September 18, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Katrien Deckers reflects on European 🇪🇺 Epilepsy Conference - #S10e115 (Volume up) Katrien: https://www.syngapresearchfund.org/team/katrien-deckers-chairperson Dr. Eschermann's Slides https://www.patre.info/2023/09/04/presentation-at-iec-2023/ EURAS Project Press Release https://euras-project.eu/ Register for the SRF Conference, it’s going to be fabulous. - Registration link: https://Syngap.Fund/Orlando - Hotels ASAP: https://Syngap.Fund/2023hotel - Merch https://www.bonfire.com/srf-syngap1-conference-2023/ Volunteer with SRF! - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 115 of #Syngap10 - September 17, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Video - Thank you Alexis - https://youtu.be/xPbE0vg33eU - Dads in denial! Could be a good t-shirt. Invitae story - https://blog.invitae.com/real-stories-naya-e-c37930c2e83 Pods - Review! Five stars! - Channel :https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 - S10: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 - Stories: https://podcasts.apple.com/us/podcast/syngap1-stories/id1667705687 - Cafe SYNGAP1:: https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525 CHOP - Sign up! https://drive.google.com/file/d/1eCVGmQ5b3RfL0ZiMpjoWIgVpFaSfEVOh/view?usp=drivesdk ILAE Dublin was a great success - - Ana’s Tweet: https://twitter.com/CNSdrughunter/status/1699754342125847023 - Ana’s Webinar: https://www.syngapresearchfund.org/webinars/treatments-in-development-for-epilepsy-syndromes-opportunities-for-syngap1 Warriors - Sign up - https://www.syngapresearchfund.org/syngap-warrior/addison Conference - Sign up by Halloween - We need head counts. - Registration link: https://Syngap.Fund/Orlando - Hotels ASAP: https://Syngap.Fund/2023hotel - Shirts https://www.bonfire.com/srf-syngap1-conference-2023/ Presentations - Pharma - To follow https://syngap.fund/23 - UCB-Digital Health - Agenda - https://med.stanford.edu/ucbcollaborative/events/2023-digital-health-symposium.html#agenda - Sign up for Ciitizen. https://www.ciitizen.com/SYNGAP1/SRF/ - It matters, this data is bringing data to companies & making SYNGAP1 more attractive. SHARE YOUR DATA. - If you have issues, email Virginie and Mequel. CANNONBALL 3 is coming! October 4-6. Takeover coming soon. - Monica is going on the road! https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-012 Share your time and blood too! Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069) - Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 114 of #Syngap10 - September 10, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Super Heroine: Vicky Arteaga Fondo Syngap is tireless: - 2 Congreso en Español on September 23, 2023 https://www.syngapresearchfund.org/professionals/2023-en-espanol Spanish Podcast #CafeSyngap1e01 - YouTube https://www.youtube.com/watch?v=dh0lPuLLUFg - Google https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9lNjAyMDgwMC9wb2RjYXN0L3Jzcw - Spotify https://spotify.link/MJZZVMoKGCb - Amazon Music https://music.amazon.com/podcasts/6e65b878-4506-4882-b6cd-1ea873c0ba7e/caf%C3%A9-syngap1 #FondoSYNGAP SRF is at ILAE - Let’s thank Katrien Deckers & Olga for representing SRF at ILAE in Dublin Sep 2nd - 6 - Vicky on one of the panels on Saturday called: Clinical diagnostic challenges in the genetic epilepsies and opportunities for precision treatment Super Heroine: Ashley Frye with Suzanne Jones and Samar Katnani #SyngapStories #KETO #MAD - Samar Interview https://twitter.com/cureSYNGAP1/status/1693987401952342442?s=20 - Keto works, remember this old gem? https://www.syngapresearchfund.org/post/ketogenic-diet Where have I been all week? - Syngap Stories about Tony https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-016 Soiree was AMAZING - Tweet https://twitter.com/curesyngap1/status/1696595956467183904 - Ashley’s Speech https://www.youtube.com/watch?v=qw2mG3wTjfc Super Heroine: Sydney Stelmazek - CHOP Update - 16 seen so far - 27 signed up - QEEG is SYNGAP1 compatible https://twitter.com/phalliburton/status/1694845802336641315?s=20 CANNONBALL 3 is coming! October 4-6. Super Heroine: Dr. Danielle Andrade Huge thanks to Dr. Andrade for this paper on Adults with SYNGAP1 https://twitter.com/DrDaniAndrade/status/1694717693080092976?s=20 Proposals came in today, we need to raise money! Finally, we have at least 6 grant proposals received! Donate and Fundraise! https://www.syngapresearchfund.org/donate/donate Share you time and blood too! Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069) - Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611 CONFERENCE Registration link: https://Syngap.Fund/Orlando Hotels ASAP: https://Syngap.Fund/2023hotel Shirts https://www.bonfire.com/srf-syngap1-conference-2023/ Volunteer with SRF! [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 113 of #Syngap10 - September 2, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Congratulations to Dr. Knowles, read our press release. https://www.syngapresearchfund.org/post/syngap-research-fund-srf-awards-130-000-grant-to-advance-research-on-maladaptive-myelination-syngap1-related-epilepsy Check out the CSC Clinic at Stanford https://www.syngapresearchfund.org/post/srf-announces-stanford-launches-california-synaptopathy-clinic-syngap1 Don’t miss #S10e111 to learn about Dr. Helbig https://www.youtube.com/watch?v=i6EZUrqsn2g In you are coming to or near SF, please go to the Willsey Lab and do the breathing test with your SYNGAPian https://www.syngapresearchfund.org/post/very-easy-non-invasive-irb-approved-study-open-to-all-syngap1-patients-available-at-ucsf Congratulations to Dr. Kadam for the SRF supported Case Study Publication: https://www.frontiersin.org/articles/10.3389/fneur.2023.1221161/full Tweet: https://twitter.com/cureSYNGAP1/status/1692227117126439099 Register for the conference, it’s going to be fabulous. - Registration link: https://Syngap.Fund/Orlando - Hotels ASAP: https://Syngap.Fund/2023hotel - Merch https://www.bonfire.com/srf-syngap1-conference-2023/ Volunteer with SRF! - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 112 of #Syngap10 - August 18, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

*Note, we aware part of the video froze; that’s life! RESEARCH! - Dr. Helbig gave a killer presentation today… at Stanford. It was so cool to see SYNGAP1 mentioned. “Deciphering the Epilepsy Phenome – Understanding Longitudinal disease trajectories and outcomes” it showed how much data you can get form EHRs, ciitizen and NHS. We need them all. Sign up for Ciitizen! https://www.ciitizen.com/SYNGAP1/ - SRF Supported work out of Huganir’s Lab is on BioRx! https://www.biorxiv.org/content/10.1101/2023.08.06.552111v1.full.pdf - Grants due on 9/1, already seeing good stuff. https://www.syngapresearchfund.org/professionals/grants/how-to-apply VOLUNTEER SITE IS UP - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund WEBINARS ARE A VALUABLE RESOURCE - https://www.syngapresearchfund.org/families/resources/all-webinars/webinars - Yesterday, Dr. Underbakk, Previously with Dr. Courtney NPR ARTICLE INCLUDING JACKIE KANCIR - https://wpln.org/post/episodes/the-cost-of-care-for-disabilities-and-chronic-illness SYNGAP STORIES Ashley Frye is killing it. Suzanne Jones just did an episode. The CHOP team listens, so do clinicians. Call Ashley and share your story. COMPANY UPDATES - Stoke had great news - https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-reports-second-quarter-financial-results-2 - Praxis also having good results - https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-9 - Have not heard from RegEl or Ionis. EVENTS - Getting ready for the Soiree - August 26th. - Cannonball set for October 4-6 - SRF SYNGAP1 CONFERENCE - Register, book etc. https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund - Watch #s10e109 https://youtu.be/to8SAwdzCmg BIOMARKERS NEED BIOSAMPLES AND EEGS - Combined Brain collections are great Dr. TJB met our very own Pavel this weekend! Plasma, plasma, plasma. - UCLA Study is moving forward for EEG collection. Contact Declan via study page. Upcoming times and places to do biosamples, thanks you Corey we are at 18 Syngapians and 21 Siblings. KEEP GOING - GLUT1 Deficiency, August 26th, 9am-5pm (Embassy Suites, 13700 Conference Center Drive South, Noblesville, IN 46060) - IRF2BPL Foundation, Sept 22nd-23rd 2023 (Home 2 Suites by Hilton, 7145 Liberty Centre Drive, Liberty Township, OH 45069, 513-644-2207) - KCNQ2 Cure Alliance Conference, Sept 29th-30th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611) - NARS1 Conference, October 1st, 9am-5pm (13550 Commerce Blvd Rogers, MN 55374) - Prader-Willi Syndrome/USP7 Foundation, October 5-7 (1672 Lawrence St, Denver, CO 80202) - TBRS Community, Oct 12th-14th 2023 (Morgan’s Wonderland, 5223 David Edwards Dr, San Antonio, TX 78233) - COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC) - FAM177A1, Oct 29th 2023, 9am-5pm (2737 77th Ave Se Suite 101 Mercer Island, WA 98040) - ADNP Syndrome, Oct 30th-Nov 1st 2023 (Los Angeles, CA) - SYNGAP1 Research Fund, Dec 1st-3rd 2023 (8978 International Drive Orlando, FL, 32819) —--- CONFERENCE Registration link: https://Syngap.Fund/Orlando Hotels ASAP: https://Syngap.Fund/2023hotel Shirts https://www.bonfire.com/srf-syngap1-conference-2023/ Volunteer with SRF! [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 111 of #Syngap10 - August 12, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Adam's Camp: Get on the mailing list! https://adamscamp.org/ Tony’s Slides! https://docs.google.com/presentation/d/1RVJekxVN6Bemx78Boy7FRbUrtHKAVE0bBzRBlIpyEeA/edit?usp=sharing Compression Clothing https://calmcare.com/ Come to the conference https://www.youtube.com/watch?v=to8SAwdzCmg — CONFERENCE Registration link: https://Syngap.Fund/Orlando Hotels ASAP: https://Syngap.Fund/2023hotel Shirts https://www.bonfire.com/srf-syngap1-conference-2023/ Volunteer with SRF! [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 110 of #Syngap10 - July 31, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Guest Hosts: Ashley Frye & Lauren Perry THE BASICS Who: Everyone! Families (including extended), caregivers, scientists, industry reps. What: SRF’s 2nd Annual SYNGAP1 Conference. - Registration link: Syngap.Fund/2023ConfReg Where: Orlando, FLORIDA! Embassy Suites by Hilton Orlando International Drive Convention Center. - Room block: https://Syngap.Fund/2023hotel When: Thursday, November 30th and Friday, December 1st, 2023. *Sea World outing is the Saturday following the conference. More to come on that. Why: Once in a year opportunity to be in the same room with multiple Syngap families from not only around the US but around the world! T-SHIRTS: https://www.bonfire.com/srf-syngap1-conference-2023/ — Volunteer with SRF! [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 109 of #Syngap10 - July 20, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Happy 5th Birthday SRF! https://mailchi.mp/syngapresearchfund.org/happy-5th-birthday-srf FASTERCURES See #S10e98 https://www.youtube.com/watch?v=iOLjUdVUtqo https://milkeninstitute.org/centers/fastercures/building-nonprofit-capacity/train Census https://Syngap.fund/census - 1,238 CHOP McKee Grant via AES https://twitter.com/jillianlmckee/status/1674037974684647424?s=46&t=8Y3-Ue9XY-QOTy42vH52Fw NHS Blog - https://www.syngapresearchfund.org/post/natural-history-study-at-childrens-hospital-of-philadelphia-is-a-natural-win-for-srf What to expect - https://www.syngapresearchfund.org/post/what-to-expect-when-youre-preparing-to-visit-the-syngap1-natural-history-study Their reflections: http://epilepsygenetics.net/2023/07/11/stxbp1-and-syngap1-natural-history-reflections-after-day-1-of-endd-clinic/ STUDIES See #S10e107 for four opportunities, https://www.youtube.com/watch?v=boHYLi3S-Mk But also: UCLA - EEG - West Coast! Missense, let’s make cell lines… watch this: https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations/ PODCASTS Brain and Life 1 and 2 https://www.brainandlife.org/articles/after-their-children-were-diagnosed-with Part 1 - English - https://www.brainandlife.org/podcast/community-stories-navigating-rare-epilepsy-diagnosis Part 2 - Spanish - https://www.brainandlife.org/podcast/comunidad-sobre-como-afrontar-diagnostico-epilepsia-genetica Podcasts - Syngap1 Stories - Ashley Evans (11) and Monica Harding (12) Ashley - https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-011 Monica - https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-012 CONFERENCE Pre-registration link: https://Syngap.Fund/2023conf Hotels ASAP: https://Syngap.Fund/2023hotel Merch https://www.bonfire.com/srf-syngap1-conference-2023/ All this was in today’s newsletter! https://Syngap.Fund/News33 Ed is doing a great job with these, thank you Ed! Volunteer with SRF! [email protected] This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 108 of #Syngap10 - July 13, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat