CURE SYNGAP1 PODCAST aka SYNGAP10 copertina

CURE SYNGAP1 PODCAST aka SYNGAP10

CURE SYNGAP1 PODCAST aka SYNGAP10

Di: 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. Disturbo fisico e malattia Economia Gestione e leadership Igiene e vita sana Management Scienza Scienze biologiche
Episodi
  • 1,871 #SYNGAP1 Census, COMBINEDBrain RR-RGND, Conference Dinner/Drinks & $200K Unlock Match #S10e222

    1,871 #SYNGAP1 Census, COMBINEDBrain RR-RGND, Conference Dinner/Drinks & $200K Unlock Match #S10e222
    Oct 2 2026

    Friday, October 2, 2026 — Week 40

    CENSUS — 1,871 AND GROWING

    • Q3 census: 1,871 known patients, +65 this quarter.
    • First patient in Rwanda. USA +11, China +16, Brazil +6, France +4.
    • Finding patients matters more than ever as trials approach. https://cureSYNGAP1.org/Census

    COMBINEDBRAIN — RARE RESEARCH ROUNDTABLE

    • Wonderful Rare Research Roundtable on Genetic Neurodevelopmental Disorders. COMBINEDBrain is a gift to the rare neuro community — hug them when you see them. https://combinedbrain.org/RR-RGND
    • Dr. Emma James of Encoded, chair of our IAB, posted about the meeting. https://www.linkedin.com/posts/emma-james-71759a1a_the-combinedbrain-research-roundtable-on-ugcPost-7511223599165472768-jDkI

    CURE SYNGAP1 CONFERENCE — DENVER

    • 9 Family Legacy Sponsors, up from 8 in 2025.
    • Thursday Rare Reception — free, register: https://cureSYNGAP1.org/RR26
    • Friday Family Dinner at Henry’s: https://cureSYNGAP1.org/Henrys
    • Conference registration ends OCT. 31. https://cureSYNGAP1.org/Reg26

    UNLOCK THEIR TOMORROW

    • Q4 goal: $500,000 by Dec. 31, including a $200,000 match.
    • Families can start their own fundraiser; anyone can donate. https://cureSYNGAP1.org/Unlock
    • Your Idea. Your Fundraiser. Your SYNGAP1 Impact. https://curesyngap1.org/blog/your-idea-your-fundraiser-your-syngap1-impact

    COMMUNITY ACTION

    • RARE Disease Week 2027, March 2-4, in DC. Travel reimbursement applications are open; deadline Nov. 6. https://bit.ly/4jo7fku
    • RARE Foundation travel reimbursement post: https://www.facebook.com/share/p/1EeF8jTWFi • Sign up for ARI: https://cureSYNGAP1.org/Ari

    WARRIORS — JACK

    • Jack is a 3-year-old from Berkeley who missed early milestones and was diagnosed with SYNGAP1 around age 3 after eyelid-fluttering episodes led to EEG, MRI and genetic testing. https://curesyngap1.org/syngap-warriors/jack-w

    NEWSLETTER #52

    • All the latest news and links in one place: https://cureSYNGAP1.org/NL52
    • Subscribe: https://cureSYNGAP1.org/Newsletter

    PUBMED + SCIENCE

    • PubMed 2026: 54. +14 vs Week 40. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

    USA - Use your ICD-10: F78.A1

    SOCIAL MATTERS

    5,301 LinkedIn. https://www.linkedin.com/company/cureSYNGAP1

    1.63k YouTube. https://www.youtube.com/@CureSYNGAP1

    11.0k X. https://twitter.com/cureSYNGAP1

    43.4k Instagram. https://www.instagram.com/cureSYNGAP1

    Like + subscribe wherever you listen. https://cureSYNGAP1.org/podcasts/syngap10

    Episode 222 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy
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    10 min
  • CAMP4 ASCEND Webinar + #SYNGAP1 Goes Global: Argentina, UN, Newborn Screening & Jaxon in ICU #S10E221

    CAMP4 ASCEND Webinar + #SYNGAP1 Goes Global: Argentina, UN, Newborn Screening & Jaxon in ICU #S10E221
    Sep 26 2026

    Saturday, September 26, 2026 — Week 39

    CAMP4 ASCEND — WEBINAR #131

    - SYNGAP1 ASCEND Phase 1/2 Trial: What You Need To Know.

    - Monday, Sept. 28 — 12 PM PT / 3 PM ET / 19:00 UTC.

    - Families: come hear directly from CAMP4 + ask your questions. https://cureSYNGAP1.org/AscendCT

    ARGENTINA — PATH TO THE CLINICAL TRIAL

    - CAMP4 + LATAM hybrid meeting: “Path to the Clinical Trial in Argentina.”

    - Remember how they got here: THE CONFERENCE. Community → relationships → trial readiness.

    - Recording: https://youtu.be/UuhOIzSEKH4

    SYNGAP1 LEADERS REPRESENTING OUR COMMUNITY

    - Incoming Board Chair Eric Moulton at Newborn Screening Bootcamp in DC. Critical that SYNGAP1 is involved in NBS — find patients sooner. Thank you RARE Foundation. https://www.rareadvocates.org/newborn-screening-bootcamp/

    - Vicky Arteaga + Allison Hirsch represented CURE SYNGAP1 at Rare Diseases International at the UN. https://www.linkedin.com/posts/rare-diseases-international_unga81-rarediseases-globalhealth-activity-7508918814357610496-xtZS

    WARRIORS

    - Wednesday Warrior #237: Matteo in NYC — happy 1st birthday! https://cureSYNGAP1.org/Warrior

    TAKE RESPIRATORY SERIOUSLY — JAXON IN ICU

    - Aaron Harding documented Jaxon’s ICU experience day-by-day. A difficult family experience worth reading directly. Add serrapeptase to your regime.

    - Aaron’s posts: https://www.facebook.com/aaron.j.harding.5

    - Willsey paper: https://pmc.ncbi.nlm.nih.gov/articles/PMC11885846/ Another paper is coming soon.

    COMMUNITY IN ACTION

    - LATAM: One Voice for SYNGAP1 — VOCES! https://cureSYNGAP1.org/Voces

    - Auburn Delta Sigma Phi + Wyatt Jones: Delta Sig for SYNGAP1. https://cureSYNGAP1.org/auburn26

    CURE SYNGAP1 CONFERENCE — DENVER

    - Dec. 3–4. Science Day: 156 registered. Family Day: 137, including 27 kids/Syngapians.

    - REGISTRATION ENDS OCT. 31. Hotel rooms going fast — register + book now. https://cureSYNGAP1.org/Reg26

    PUBMED + SCIENCE

    - PubMed 2026: 54. +15 vs Week 39. Last year finished at 61, +9 vs the year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

    - NEW: Pekka Postila team — years of CURE SYNGAP1 support + partnership studying missense mutations.

    - Molecular modeling supports canonical RasGAP + Plexin-like RapGAP mechanisms; missense variants can disrupt protein stability AND catalysis; other insights.

    - Paper: https://doi.org/10.1016/j.yjsbx.2026.100162

    USA: Use ICD-10 code F78.A1.

    SOCIAL MATTERS

    5,288 LinkedIn. https://www.linkedin.com/company/cureSYNGAP1/

    1.62K YouTube. https://www.youtube.com/@CureSYNGAP1

    11.1K X. https://twitter.com/cureSYNGAP1

    43.7K Instagram. https://www.instagram.com/cureSYNGAP1/

    Like + subscribe wherever you listen. https://cureSYNGAP1.org/podcasts/syngap10/

    Episode 221 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy
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    10 min
  • ASCEND Trial Webinar + #SYNGAP1 Warriors, Biobank, HEOR & Industry News #S10E220

    ASCEND Trial Webinar + #SYNGAP1 Warriors, Biobank, HEOR & Industry News #S10E220
    Sep 21 2026

    Monday, September 21, 2026 — Week 39

    CAMP4 ASCEND TRIAL — WEBINAR #131

    • CAMP4’s SYNGAP1 ASCEND Phase 1/2 Trial — What You Need To Know.
    • Tuesday, Sept. 29 — 12 PM ET / 9 AM PT.
    • REGISTER https://curesyngap1.org/calendar/webinar-131-camp4-syngap1-ascend-phase-1-2-trial/

    SCRAMBLE FOR SYNGAP — 12 DAYS

    • 5th Annual — Oct. 3, Greer, SC.
    • Julie + family back on WSPA 7 News — including some very real family moments.
    • SOLD OUT. Five years of building awareness + community. https://youtu.be/GcD58deUPtU
    • Event: https://cureSYNGAP1.org/Scramble

    WARRIORS — KEEP TELLING THE STORIES

    • NEW: Weston, 22 — diagnosed only 6 months ago. Late diagnosis! https://cureSYNGAP1.org/Warrior
    • Will was Warrior #21 at age 9. He’s now 16. https://cureSYNGAP1.org/Will
    • Kiera — Warrior #172 — now 6. https://cureSYNGAP1.org/Kiera
    • These stories matter. Keep sharing them.

    COMBINEDBrain BIOBANK — ONLY 2 LOCATIONS LEFT

    • Boston — Oct. 8–9.
    • Denver — Dec. 3–4 at the CURE SYNGAP1 Conference.
    • Email Lauren@cureSYNGAP1.org.

    HEOR — DOCUMENTING THE REAL BURDEN

    • Building our Health Economics & Outcomes Research work with payers & clinicians in mind.
    • Anxiety + behavior management matter.
    • e.g. Rett: 323 caregivers — https://pubmed.ncbi.nlm.nih.gov/42570201/
    • e.g. Angelman: U.S. study of 105 caregivers estimated average annual caregiving economic impact at $79,837 — 53% from employment impacts/lost productivity. https://pubmed.ncbi.nlm.nih.gov/39985061/

    HELP WANTED — PRESS

    • We have a backlog of CURE SYNGAP1 press releases.
    • Know PR / communications? We need help.
    • Volunteer skills matter just as much as fundraising.

    IONIS — ANGELMAN

    • Ionis published a community letter after the GTX-102/ASPIRE results.
    • Relevant follow-up to my discussion in E217.
    • Read it directly — 2’MOE https://assets.ctfassets.net/qj7dcdpo5rmb/nBQEr7TJQIyexzQu229Dl/a5ae4fff28861385532da0c8390b1c30/PA-US-AS-260005_-_Community_Statement_on_Status_of_Obudanersen_Program_-_FINAL_-_Sept_2026.pdf

    ULTRAGENYX — CONGRATULATIONS

    • FDA FULL APPROVAL for FAYUVI / UX111 for Sanfilippo syndrome Type A.
    • First-ever FDA-approved treatment for MPS IIIA.
    • Single-dose IV AAV9 gene therapy. Second approved gene therapy for RARE.
    • https://ir.ultragenyx.com/news-releases/news-release-details/ultragenyx-announces-approval-fayuvitm-gene-therapy-first-ever

    UPCOMING

    SHOOT FOR SYNGAP1 — Nov. 14, Hurricane, UT https://cureSYNGAP1.org/Shoot

    FIGHT FOR FELIPE — Nov. 28, Boston https://cureSYNGAP1.org/Fight

    CURE SYNGAP1 CONFERENCE — Dec. 3–4, Denver https://cureSYNGAP1.org/Reg26

    PUBMED 50 SYNGAP1 publications in 2026 — +11 vs. Week 39. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

    USA: Use your ICD-10, F78.A1

    SOCIAL MATTERS

    5,268 LinkedIn — +28 since E219. https://www.linkedin.com/company/curesyngap1

    1.62k YouTube. https://www.youtube.com/@CureSYNGAP1

    Like and subscribe wherever you listen. https://cureSYNGAP1.org/podcasts/syngap10

    Episode 220 of #Syngap10 #RareDisease #CureSYNGAP1 #PatientAdvocacy
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    10 min
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