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CURE SYNGAP1 PODCAST aka SYNGAP10

CURE SYNGAP1 PODCAST aka SYNGAP10

Written by: Syngap Research Fund 501(c)(3)
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Over 1,600 families are caring for a loved one with the rare disease ”SynGAP” resulting from a variant of the SYNGAP1 gene. This weekly podcast is for them. -A quick summary of the latest news in the space. The host is Mike Graglia, co-founder & managing director of CURE SYNGAP1. CURE SYNGAP1 is a parent-led public charity in the US that strives to accelerate research into treatments for SYNGAP1 so that we can help our loved ones in a timeframe that matters. Learn more at https://cureSYNGAP1.org

Copyright 2021-5. CURE SYNGAP1. All rights reserved. Biological Sciences Economics Hygiene & Healthy Living Management Management & Leadership Physical Illness & Disease Science
Episodes
  • Comment on Haystack Petition to FDA. New Board of Trustees. #ICD10 F78.A1 #CureID #S10e205

    Comment on Haystack Petition to FDA. New Board of Trustees. #ICD10 F78.A1 #CureID #S10e205
    Apr 21 2026
    Monday, April 20, 2026 - Week 17 CURE SYNGAP1 joins the Haystack Project in petitioning FDA for more clarity. PR: https://static1.squarespace.com/static/5966cc2220099e91326caaec/t/69d7dbb80155f46e144ae2e5/1775754168227/4.9.26+press+release+petition_vf.pdf Petition: https://static1.squarespace.com/static/5966cc2220099e91326caaec/t/69d7e016d5986e16ff09b64c/1775755288463/Letter+Head+Petition+for+rulemaking+to+amend%C2%A021+CFR+%C2%A7+314.126+and+%C2%A0%C2%A7312.47+%281%29.pdf Reuters 4/1: https://www.reuters.com/sustainability/boards-policy-regulation/rare-disease-advocacy-group-urges-trump-administration-restore-fda-clarity-2026-04-01/ Pink Sheet: https://insights.citeline.com/pink-sheet/pathways-and-standards/review-pathways/could-structured-not-ad-hoc-us-fda-flexibility-increase-rare-disease-development-certainty-BYXJENIJLFEINOSO72RS53ZJHE/ Show your support here: https://www.regulations.gov/document/FDA-2026-P-3666-0001 Paragraph 1 – Share information about you and SYNGAP1. Paragraph 2 – Seizures are hard to count while X, Y and Z are major burdens but FDA wants nice countable seizures, this makes it hard to develop drugs. Paragraph 3 – How could “clinically meaningful” endpoints potentially help your community and drug developers? How could a study design other than a ‘randomized clinical trial’ help? How could FDA consulting with disease-specific experts help? Closing – Finish your letter with anything along these lines: We support the framework for all rare set diseases in Haystack’s petition. We don’t believe FDA has to lower the evidentiary bar to approve treatments for our diseases. Randomization isn’t always possible. New scientific methods should be considered. Endpoints specific to our disease should be considered. We urge FDA to open a rulemaking so we can have a legally binding regulation. Board changes, thank you to everyone. https://www.linkedin.com/posts/curesyngap1_curesyngap1-syngap1-patientadvocacy-activity-7450528611339616256-4MJF?utm_source=share&utm_medium=member_desktop&rcm=ACoAAAAD8f4B7JC4TMss45Q8hrsq5kiceI0Z8HE Press Release cureSYNGAP1.org/PR45 US, use your ICD-10, F78.A1: https://onlinelibrary.wiley.com/doi/10.1002/epi.70142 Study list! Citizen Health https://www.citizen.health/ai-advocate/syngap1 Combined Brain (May 1 & 2 in NorCal), https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit?usp=sharing ProMMiS https://www.linkedin.com/feed/update/urn:li:activity:7450196488300728320 Rare-X, the same week. DSC and Cook’s are coming soon! CURE-ID for Drug responses. CURE-ID is cool. https://cure.ncats.io/home (Webinar coming) Webinar: Thu May 7, 2026 1:30pm – 3pm (PDT) cureSYNGAP1.org/cureID 6th ANNUAL SPRINT FOR SYNGAP1, EVERYWHERE – 5 days - $207k! Go Tavilla. 17 teams raised $265K last year; this year, we have 20+ teams! https://curesyngap1.org/calendar/sprint4syngap-2026 Thank your Rifton for the donation of the tricycle. Email today: https://mailchi.mp/curesyngap1.org/sprint-for-syngap-2026-one-community-one-goal?e=17610baa03 INAUGURAL SF NIGHT OF IMPACT, CA – 38 days Join us this is our only Gala for 2026! cureSYNGAP1.org/SF26 5TH SCRAMBLE FOR SYNGAP, SC – 166 days Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26 PUBMED Pubmed 2026 is at 26. +9 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date SOCIAL MATTERS 4,891 LinkedIn. https://www.linkedin.com/company/curesyngap1 1.55k YouTube. https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1 $CAMP closed at $4.67 Friday. https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 205 of #Syngap10 #CureSYNGAP1 #Podcast
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    10 mins
  • Global Advocacy. #NL51. Snippets! #SYNGAPcensus = 1,761. UT Arlington & Cook Children’s. #S10e204

    Global Advocacy. #NL51. Snippets! #SYNGAPcensus = 1,761. UT Arlington & Cook Children’s. #S10e204
    Apr 14 2026

    Tuesday, April 14, 2026 - Week 16

    Census is 1,761

    https://curesyngap1.org/blog/syngap1-census-2026-update-54-q1-total-1761

    Trip to Texas for UT Arlington and Cook Children's

    • Systems innovation with Dr. Lal and Dr. Perry
    • My post: https://www.linkedin.com/posts/graglia_raredisease-activity-7448087944466259970-MADW?utm_source=share
    • *** Dr. Lal’s post: *** https://www.linkedin.com/posts/dennis-lal-71a8988a_epilepsies-neurodevelopmentaldisorders-raredisease-activity-7449111793991577600-sfXZ

    ProMMiS patients - 164 unique patients, 96 of whom have had 2 visits & 46 others 3-5 visits

    https://curesyngap1.org/resources/studies/syngap1-prommis

    Citizen - 289 registered

    https://www.citizen.health/ai-advocate/syngap1

    Victoria Arteaga representing CURE SYNGAP1 at IBE Global Leaders Meeting

    https://www.linkedin.com/posts/victoria-arteaga-26913433_syngap1-rareepilepsy-dee-activity-7449587651885621248-UD9v

    Newsletter 51 www.cureSYNGAP1.org/NL51

    SYNGAP1 Snippets

    You are in this for life.

    Board meetings to approve budgets, fundraising has never been more important.

    6th ANNUAL SPRINT FOR SYNGAP1, EVERYWHERE – 12 days - $169k! Go Tavilla.

    17 teams raised $265K last year; this year, we have 24 teams who have raised almost $170K so far.

    https://curesyngap1.org/calendar/sprint4syngap-2026

    INAUGURAL SF NIGHT OF IMPACT, CA – 46 days

    Join us this is our only Gala for 2026!

    cureSYNGAP1.org/SF26

    5TH SCRAMBLE FOR SYNGAP, SC – 174 days

    Classic case of a small event becoming an institution!

    cureSYNGAP1.org/Scramble26

    PUBMED

    Pubmed 2026 is at 24. +8 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

    SOCIAL MATTERS

    4,869 LinkedIn. https://www.linkedin.com/company/curesyngap1

    1.55k YouTube. https://www.youtube.com/@CureSYNGAP1

    11.1k Twitter https://twitter.com/cureSYNGAP1

    45k Insta https://www.instagram.com/curesyngap1

    $CAMP closed at $4.64 yesterday.

    https://www.google.com/finance/beta/quote/CAMP:NASDAQ

    Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10

    Episode 204 of #Syngap10 #CureSYNGAP1 #Podcast
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    10 mins
  • DSC-III and Data - CURE SYNGAP1 is working tirelessly to increase SYNGAP1 Knowledge #S10e203

    DSC-III and Data - CURE SYNGAP1 is working tirelessly to increase SYNGAP1 Knowledge #S10e203
    Apr 4 2026

    Friday, April 3, 2026 - Week 14

    Just back from the DSC-III Kickoff Meeting! As announced back in September 2025. Really strong group of clinicians.

    https://dsc.rarediseasesnetwork.org/patient-advocacy-groups

    More on DSC in #S10e184 https://curesyngap1.org/podcasts/syngap10/dsc-rdcrn-ncats-nih-press-aav-in-cell-srf-at-cb-scramble-for-syngap1-s10e184/

    We will have sites at SYNGAP1 established doctors, Dr. Wiltrout at Boston Children's Hospital/Harvard, Dr. Holder at Baylor and our very own ProMMiS Doctors: Knowles at Stanford / Dr. Abbott at Colorado. AND, excitingly, these two new locations:

    Rush University Medical Center (Rush) led by Dr. Dr. Liz Berry-Kravis.

    University of Alabama at Birmingham led by Dr. Martina Bebin.

    Interestingly we are paired with PMS aka SHANK3 so the comparisons will naturally arise. Both post-synaptic, they are a half step ahead of us. (We will catch up!) SHANK3 and SYNGAP1 have lots in commons: PSD, Synaptic Plasticity, mTOR. Differences, we have more epilepsy, they have more Catatonia (see Table 2 in Trelles 2026 https://pubmed.ncbi.nlm.nih.gov/41895438/).

    After that I met with Dr. Xin Tang from BCH who is working on some exciting potential therapies and then over to CAMP4, who is moving at light speed.

    ILAE Rare Epilepsy Big Data Task Force for 4 years! Makes me think about data…

    Where does SYNGAP1 Data Live?

    • Citizen.Health Retrospective
    • ProMMiS Clinical
    • Rare-X PRO
    • Now the DSC will have both
    • Combined Brain Registry and EEG Database.
    • In Argentina SYNGAP1 Registry, potentially expanding to Chile and Colombia.
    • In the EU there is PATRE part of EURAS.
    • In the UK, it seems largely via NHS.
    • In China, I don’t know but this paper shows us someone has 99 people: https://pubmed.ncbi.nlm.nih.gov/41914539/
    • Where else?

    SYNGAP1 is having a moment, we need project manager volunteers.

    SPRINT FOR SYNGAP1, EVERYWHERE – 21 days - $132k!

    Get on the map!

    https://curesyngap1.org/calendar/sprint4syngap-2026

    INAUGURAL SF NIGHT OF IMPACT, CA – 55 days

    Join us this is our only Gala for 2026!

    cureSYNGAP1.org/SF26

    5TH SCRAMBLE FOR SYNGAP, SC – 183 days

    Classic case of a small event becoming an institution!

    cureSYNGAP1.org/Scramble26

    PUBMED

    Pubmed 2026 is at 22. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

    SOCIAL MATTERS

    4,822 LinkedIn. https://www.linkedin.com/company/curesyngap1

    1.55k YouTube. https://www.youtube.com/@CureSYNGAP1

    11.1k Twitter https://twitter.com/cureSYNGAP1

    45k Insta https://www.instagram.com/curesyngap1

    $CAMP closed at $4.47 today.

    https://www.google.com/finance/beta/quote/CAMP:NASDAQ

    Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10

    Episode 203 of #Syngap10 #CureSYNGAP1 #Podcast
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    10 mins
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