CURE SYNGAP1 PODCAST aka SYNGAP10 Podcast Por Syngap Research Fund 501(c)(3) arte de portada

CURE SYNGAP1 PODCAST aka SYNGAP10

CURE SYNGAP1 PODCAST aka SYNGAP10

De: 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. Ciencia Ciencias Biológicas Economía Enfermedades Físicas Gestión Gestión y Liderazgo Higiene y Vida Saludable
Episodios
  • 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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  • 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 m
  • It is time to get ready for clinical trials, this is how. #S10e202

    It is time to get ready for clinical trials, this is how. #S10e202
    Mar 26 2026
    Thursday, March 26, 2026 - Week 13 Thanks for NL50 Ed! cureSYNGAP1.org/NL50, I listened to Episode 1 and, as it turns out, it was March 12, 2021 (five 5️⃣ years ago), and it’s evergreen. SEVEN THINGS YOU NEED TO DO TO BE READY FOR CLINICAL TRIALS Stay Connected to CURE SYNGAP1. Fill in the Connect Form https://curesyngap1.org/connectHave an annual call with LaurenSubscribe to the CURE SYNGAP1 Podcast everywhere and to our YouTube Know your mutation, have your genetic report. Memorize it or get a tattoo.Sign up for our Natural History Studies. Looking forward: ProMMiS https://curesyngap1.org/prommis/ (Also helps you figure out travel)Looking back: Citizen Health https://www.citizen.health/ai-advocate/syngap1 Participate in Research, get your mutation affirmed and published. Join the CB BioRepository https://combinedbrain.org/roadshowGive samples early and often, like me last week: https://www.linkedin.com/posts/graglia_syngap1-syngap-ciliopathy-activity-7441907768468451328-xhzb Do Surveys Educate yourself, start with these two blogs. https://curesyngap1.org/blog/emerging-medicines-syngap1-related-disorders-primer-comparison-glossaryhttps://curesyngap1.org/blog/preparing-for-syngap1-clinical-trials-what-families-need-to-know Extra Credit: Collect your EEGs. Get them from everywhere you have been (check Citizen to be sure)Keep them handy on a google drive… like this: https://drive.google.com/drive/folders/1vUMRMtnvTJJi7WEwcSrDSLArGL3vzFxH?usp=share_link Upload them to the CB EEG Repository. Email Lauren for info#S10e123 https://curesyngap1.org/podcasts/syngap10/the-more-we-own-our-eegs-the-sooner-we-get-a-biomarker-simple-and-remember-to-get-dinner-tickets-for-the-conference-s10e123 Super Extra Credit: If you have a missense, intronic or other weird mutation. We should make a cell line which will allow further study. These cost ~$10k each, so we need to do a fundraiser, but we can help. #S10e SPRINT FOR SYNGAP1, EVERYWHERE – 29 days Get on the map! https://curesyngap1.org/calendar/sprint4syngap-2026 INAUGURAL SF NIGHT OF IMPACT, CA – 63 days Join us this is our only Gala for 2026! cureSYNGAP1.org/SF26 5TH SCRAMBLE FOR SYNGAP, SC – 191 days Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26 SYNGAP1 Awareness Must watch this episode of Kelly and Kyle. Careful with those ASMs that challenge bone growth… https://curesyngap1.org/bones PUBMED Pubmed 2026 is at 18. Some great papers, but will discuss later. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date SOCIAL MATTERS 4,786 LinkedIn. https://www.linkedin.com/company/curesyngap1 1,540 YouTube. https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1 $CAMP stock is at $4.75 on 25 Mar. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 202 of #Syngap10 #CureSYNGAP1 #Podcast
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    10 m
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