• Join Frazier Study, Combined Federal Campaign (33321), Unravel Study, new papers & Chronic Grief #S10e149

  • Sep 10 2024
  • Duración: 17 m
  • Podcast

Join Frazier Study, Combined Federal Campaign (33321), Unravel Study, new papers & Chronic Grief #S10e149

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  • 📝Full show notes: https://syngap.fund/n149 FRAZIER STUDY https://Syngap.Fund/Eye2 khuba@jcu.edu 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
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