• Cure SYNGAP1 is firing on all cylinders! 4MTx, C2C and the Conference is almost here! #S10e154

  • Nov 16 2024
  • Length: 15 mins
  • Podcast

Cure SYNGAP1 is firing on all cylinders! 4MTx, C2C and the Conference is almost here! #S10e154

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  • Friday, November 15, 2024 SRF NEWS Busy week for Mike & Virginie: Citizen Health & Ultragenyx, not Milken. Sign up for Citizen Health https://www.citizen.health/partners/srfGrowing our name https://curesyngap1.org/blog/syngap-research-fund-srf-announces-dba-cure-syngap1-a-new-era-in-the-search-for-a-cure/Financials updated with 2023 https://curesyngap1.org/finances/ Thank you Stefanie Decker!Newsletter #41 - https://Syngap.Fund/NL41 - About why we need a cure - quotes from our familiesWe're over 100 volunteer bios on the website! More being added every week! Great work Zoe! https://curesyngap1.org/team/Cafe SYNGAP1 e24 is up! Gloria Amparo Guzmán Cali, Colombia https://syngap.fund/Cafe 4MTx Announcement and direct impact on pipeline https://www.4mtx.net/news/4m-therapeutics-compounds-to-be-utilized-in-research-project-funded-by-national-institute-on-aging-bjebrhttps://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/Speaking of small molecules, get this on Ravicti https://www.medrxiv.org/content/10.1101/2024.11.06.24316676v2 RESEARCH UPDATE There are 306 papers on or related to SYNGAP1 since 1998, but 48 of those are in 2024! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded Latest is from Frazier! https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16112 Sign up for Frazier https://syngap.fund/eye2 https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/ More Grants at work Science: Key Missense Webinar next week https://curesyngap1.org/resources/webinars/virtual-and-experimental-approaches-to-the-pathogenicity-of-syngap1-missense-mutations/New study at CHOP - Phenotype of the Hispanic SYNGAP1 Family. Details (English or Spanish) at https://Syngap.Fund/CHOPEspBower family blog - Camden's trip to CHCO - https://Syngap.Fund/CamCHCOThank you Corey Baysden for getting the Studies so well organized! https://curesyngap1.org/resources/studies/ Conference - Conference is 18 days away! Lineup: Science Day lineup - https://x.com/curesyngap1/status/1851723428677456093Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267Friday Join us for dinner! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-caregiver-dinner FUNDRAISING Coast2Coast Challenge $120,642 Syngap.Fund/C2C Minted Cards - 20% discount, 15% to SRF, code FUNDRAISESYNGAP - https://Syngap.Fund/MintedFUNDRAISE https://syngap.fund/FR CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/ VOLUNTEER SPOTLIGHT:Amber Mickler https://www.linkedin.com/posts/amber-mickler-9b3534b8_syngap1-weneedacure-raredisease-activity-7263047283305320448-GpQK ZOOM BACKGROUND https://drive.google.com/file/d/13jhPIBo-o1sHchEJz6KttocT1_h7GKZE/view?usp=sharing VOLUNTEER https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 1,220 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,847 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,815 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ - 442 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! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 154 of #Syngap10 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
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