#SRFadvocates, #ColinFarrellFoundation, Adult Advocacy & the Best Science Team Ever #S10e147

📝Full show notes: https://syngap.fund/n147  FDA Talk this week!  Thank you Beacon! https://syngap.fund/fda24    SRF ADVOCACY - Don’t miss the chance to beef up your advocate muscles, after we get through FDA, the fun has just begun.  JK & JJ are amazing.  https://curesyngap1.org/team/leadership-team/jackie-kancir/  ADULT ADVOCACY SRF & UBC: https://curesyngap1.org/adults-with-syngap1-caregiver-resources/ also /Adult Interview: https://www.youtube.com/watch?v=JDiD8Z3lWQkFoundation: https://colinfarrellfoundation.org/ WaPo Article: https://www.washingtonpost.com/health/2024/08/08/what-is-angelman-syndrome-colin-farrell-son/ LEVERAGE PARTNERS https://globalgenes.org/blog/global-genes-sweet-16th-birthday-success-stories/ Go to GG Rare Advocacy Summit Sept 26 & 27. https://globalgenes.org/week-in-rare/ SCIENCE TEAM PROJECT ACES - Accelerating Clinical Excellence for SRD - CHCO & Data PROJECT SBOM - SYNGAP1 Biomarker & Outcome Measures - Analysis PROJECT SMART - SYNGAP1 Missense Analysis Research & Therapeutics - In flight PROJECT PURPOSE - Repurposing - Ravicti, NAL, Nortriptyline - Unravel PROJECT FACILITATE - Tools and Reagents - Mice work in flight RESEARCH UPDATE There are 292 papers on or related to SYNGAP1 since 1998, but 32 of those are in 2024!  We are more than on track to set a record this year with the biggest annual output being in 2023 with 43 papers.  I’ve seen multiple papers being submitted lately, it’a actually hard to keep up.   LINK LATEST PAPER: https://www.eurekalert.org/news-releases/1053579 WEBINAR: https://curesyngap1.org/resources/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development/ FUNDRAISERS! Go Australia! https://www.theland.com.au/story/8704556/support-syngap1-research-win-a-toyota-hilux-sr5/  3 state advocates on website & 17 ambassadors with more coming - still need volunteers for many states! Contact Jackie (Adv) or Corey (Amb) Smarts for Syngap - DC Trivia Night - 24 Days! Scramble for Syngap - 55 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/ SynGAP Research Fund Gala - 68 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/ Missense Account of the Fund $21,684 https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund Emmy $6,449 https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research  YOU? https://curesyngap1.org/blog/fundraising-the-backbone-of-research/ CALENDAR MANAGEMENT Conference is 116 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 - 44 for Science Day (36 caregivers) & 52 for Family Day (36 caregivers, 13 kids/sibs) 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 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 Cafe Syngap1 #17 https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525?i=1000664777811Episode 147 of #Syngap10 - Sunday, August 11th, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1