Couverture de CURE SYNGAP1 PODCAST aka SYNGAP10

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. Economie Hygiène et vie saine Maladie et pathologies physiques Management Management et direction Science
Épisodes
  • #Future4Ford. 2Q26 #SYNGAP1Census = 1,806 Patients (+45) $CAMP #ValproateDemandBetter #S10e212

    #Future4Ford. 2Q26 #SYNGAP1Census = 1,806 Patients (+45) $CAMP #ValproateDemandBetter #S10e212
    Jul 5 2026
    #Future4Ford. 2Q26 #SYNGAP1Census = 1,806 Patients (+45) $CAMP #ValproateDemandBetter #S10e212 Saturday, July 4, 2026 - Week 27 #Future4Ford! Already at $3,500+! Share. Thank you to the Family. This is the model for newly diagnosed, call us, set up a page, help us help your loved one. cureSYNGAP1.org/4Ford CENSUS - 1,806 https://curesyngap1.org/blog/syngap1-census-2026-update-45-q2-total-1806/ Per https://docs.google.com/spreadsheets/d/1oJwMysR2wyTxe91zLlKJglNa0NySPxkBF0PRiV6mBmM/edit?usp=sharing, no change in Germany, UK, or Netherlands. This is clearly wrong. MERCH - 9 days left! New t-shirts! Buy for everyone! There are some funny ones this year and the classics. cureSYNGAP1.org/Bonfire CAMP4 has been busy! Meeting with one of our families: https://www.linkedin.com/posts/syngap1-share-7473374060614201345-SeKO/ Shoutout on NASDAQ: https://www.linkedin.com/posts/camp4-therapeutics_syngap1awareness-regrna-syngap1-activity-7474823632972820480-UMqi $CAMP closed at $4.43 yesterday. https://www.google.com/finance/beta/quote/CAMP:NASDAQ BONES – This is not medical advice, I am not a doctor. Talk to a doctor AND know your facts. https://curesyngap1.org/blog/navigating-a-lifetime-of-diagnoses-michaels-syngap1-journey-and-the-effects-of-anti-seizure-medications-on-bone-density/ Valproate is the active Ion, it comes from Valproic Acid (Depakene), Sodium Valproate or Divalproex Sodium (Depakote). They all cause bone loss by stoping stomach from absorbing, then robbing bones, then flushing out. More and longer is worse. Vitamin D and Calcium can help but they need to start early and it’s better to just find another drug. Also insurance likes it because it’s cheap and old – demand better. “Valproic acid and clobazam were commonly used for epilepsy treatment, while risperidone, aripiprazole, and guanfacine were commonly used for behavior management. Valproate and lamotrigine were more effective at reducing seizure frequencies or maintaining seizure freedom than other anti-seizure medications.” Clinical signatures of SYNGAP1-related disorders through data integration https://pmc.ncbi.nlm.nih.gov/articles/PMC12419475/ THINGS TO LOOK FORWARD TO… 5TH SCRAMBLE FOR SYNGAP, SC – 91 days till October 3rd Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26 SHOOT FOR SYNGAP, UT – 133 days till November 14th curesyngap1.org/calendar/shoot-for-syngap1/ FIGHT FOR FELIPE, MA - 148 days till November 29th curesyngap1.org/Fight26 CURE SYNGAP1 CONFERENCE - 152 days until December 3rd & 4th cureSYNGAP1.org/Denver rooms available: ‭cureSYNGAP1.org/denhyatt for $159. In on Wed, out on Saturday. PUBMED Pubmed 2026 is at 40. +13 vs the week. (61 last year was +9) We are already at the 4th highest year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date Thanks to Dr. Stephen Smith for this exciting paper, especially in the context of ASOs… Genetic rescue of disrupted synaptic protein interaction network dynamics following SYNGAP1 reactivation https://pubmed.ncbi.nlm.nih.gov/42362191/ USA 🇺🇲: Use your ICD-10, F78.A1 SOCIAL MATTERS 5,106 LinkedIn. https://www.linkedin.com/company/curesyngap1 1.59k YouTube. https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 43.7k Insta https://www.instagram.com/curesyngap1 Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 212 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy
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    10 min
  • We need a #SYNGAP1 mouse lab? #BIO2026 #MDBR 19 days for Merch. #GeneticTesting #ASOwebinar #S10e211

    We need a #SYNGAP1 mouse lab? #BIO2026 #MDBR 19 days for Merch. #GeneticTesting #ASOwebinar #S10e211
    Jun 26 2026

    Friday, June 26, 2026 - Week 26

    BIO was good. Need a mouse lab to test molecules all year long.

    https://www.linkedin.com/posts/graglia_syngap-syngap1-mousemodels-ugcPost-7476041484408901633-Zldd/

    MDBR was big, not just Justin A.! Thank you Dr. McKee, Heather and others. cureSYNGAP1.org/MDBR26Recap

    MERCH - 19 days left!

    New t-shirts! Buy for everyone! There are some funny ones this year and the classics. cureSYNGAP1.org/Bonfire

    GENETIC TESTING

    Valuable resource as you have questions. curesyngap1.org/GT

    WARRIORS - Phoenix and Kenna

    cureSYNGAP1.org/Warrior

    THINGS TO LOOK FORWARD TO…

    WEBINAR: Understanding ASOs & Informed Consent

    June 30 4:30 ET curesyngap1.org/calendar/understanding-asos-informed-consent/

    5TH SCRAMBLE FOR SYNGAP, SC – 99 days till October 3rd

    Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26

    SHOOT FOR SYNGAP, UT – 141 days till November 14th

    fb.watch/HRnwf9FnEB/

    FIGHT FOR FELIPE, MA - 155 days till November 29th

    curesyngap1.org/Fight26

    CURE SYNGAP1 CONFERENCE - 159 days until December 3rd & 4th

    cureSYNGAP1.org/Denver rooms available: ‭cureSYNGAP1.org/denhyatt for $159. In on Wed, out on Saturday.

    PUBMED

    Pubmed 2026 is at 38. +12 vs the week. (61 last year was +9) We are already at the 4th highest year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

    Props to Dr. Frazier for yet another paper on SYNGAP1 based on his study, one of the best grants ever.

    https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70337

    USA 🇺🇲: Use your ICD-10, F78.A1

    SOCIAL MATTERS

    5,074 LinkedIn. https://www.linkedin.com/company/curesyngap1

    1.59k YouTube. https://www.youtube.com/@CureSYNGAP1

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

    43.8k Insta https://www.instagram.com/curesyngap1

    $CAMP closed at $3.92 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 211 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy
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    10 min
  • #ILoveSomeoneWithSYNGAP1. June 21 is SYNGAP1 Awareness day. $159 rooms at the GrandHyatt! #S10e210

    #ILoveSomeoneWithSYNGAP1. June 21 is SYNGAP1 Awareness day. $159 rooms at the GrandHyatt! #S10e210
    Jun 20 2026
    Friday, June 19, 2026 - Week 25 June 21 is SYNGAP1 Awareness Day, but we have made it SYNGAP1 Awareness month! Why 6/21? Because 6p21.32 Donate! cureSYNGAP1.org/Donate #ThisIsOursToLose & #BurdenHopeProgress watch #S10e208 https://curesyngap1.org/podcasts/syngap10/tony-update-thisisourstolose-more-great-results-from-camp4-nightofimpact-in-9-days-s10e208/ New family email, very good, lots of questions. It’s all here. Reach out, we are here for you and you are welcome in this community – you are part of it whether you like it or not. Raise money. Join our host committee for 2nd SF event next year.Believe that we are doing the best we possibly can, and you would be adrift without a PAG. If you think this is painful, imagine if we weren't here!Register for the Conference. Book tickets to DEN now. cureSYNGAP1.org/DenverJoin us -- make this org better for all of us and all our kids for all their lives. Complex work doesn't fit neatly in 10 minutes anymore... Health Economics and Market Access work is going well, we will put out an RFP shortly. NATURAL HISTORY Goes On! Make sure you are in it. https://curesyngap1.org/resources/studies/syngap1-prommis/ Orlando/McKee Grant "Validating Remote Developmental Assessments in SYNGAP1-Related Disorders" cureSYNGAP1.org/PR49 🤖 ARI Sign up now, s/he keeps getting better, and then connect to Citizen Health, if you are not on Citizen Health, fix that. https://www.citizen.health/ai-advocate/syngap1 https://ari.citizenhealth.com/ KUDOS - The fifth MDBR, Justin Albrecht rode 70 remote in NC. Raised $2k. - Rachel Jasiczek (Yah-she-check) was a guest on Remarkable Futures Podcast - https://open.spotify.com/episode/7dYmHcXEu58H4C8VCoZ9V1?si=x3xvui86TY2cyGHyS3mGDQ - Collective: CURE SYNGAP1 Collective - cureSYNGAP1.org/PR48 Collective page - cureSYNGAP1.org/Collective More fundraisers! WARD - Shoot for SYNGAP on November 14th in Utah! https://fb.watch/HRnwf9FnEB/ Another in Boston in the works… WEBINAR: Understanding ASOs & Informed Consent June 30 4:30 ET https://curesyngap1.org/calendar/understanding-asos-informed-consent/ 5TH SCRAMBLE FOR SYNGAP, SC – 106 days till October 3rd Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26 CURE SYNGAP1 CONFERENCE - 166 days until December 3rd cureSYNGAP1.org/Denver rooms available: ‭cureSYNGAP1.org/denhyatt for $159. In on Wed, out on Saturday. USA: use your ICD-10, F78.A1: https://onlinelibrary.wiley.com/doi/10.1002/epi.70142 PUBMED Pubmed 2026 is at 37. +12 vs the week. (61 last year was +9) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date SOCIAL MATTERS 5,058 LinkedIn. https://www.linkedin.com/company/curesyngap1 1.58k YouTube. https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1 $CAMP closed at $4.13 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 210 of #Syngap10 #SYNGAP1 #CureSYNGAP1 #Podcast #PatientAdvocacy
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    10 min
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