UFDTech, Eye-tracking, Praxis #DEEpDive, Stoke, Lacoste, Devinsky, #SRFConf, #S10e150

📝Full show notes: https://curesyngap1.org/podcasts/syngap10/ FRAZIER STUDY https://Syngap.Fund/Eye2 [email protected]  Praxis DEEp Dive https://x.com/JMGraglia/status/1838548992285896914  SRF Deck https://docs.google.com/presentation/d/1ePB5Ou6bGZ2NWWHIEwkO2dGSRYifyZEJy4KZF2fanq4/edit?usp=sharing  We Need A Cure Yesterday blog https://curesyngap1.org/blog/we-need-a-cure-for-syngap1-yesterday/ Chronic Grief  Al Freedman https://www.linkedin.com/posts/graglia_activity-7240740334329102336-hidL/ Short: https://www.youtube.com/watch?v=Y_5UlBQVe2w Conference - Conference is 72 days away Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Register now - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf Book a room - https://bookings.omnihotels.com/event/los-angeles-california-plaza/2024%20SRF-SLC6A1-Connect-and-Cure-GABA-A Sponsor alongside Jones, Wieczrek and Graglia.   PR out this week  Lacoste (https://Syngap.Fund/PR28)https://curesyngap1.org/blog/dr-baptiste-lacoste-receives-syngap-research-fund-grant-for-research-on-vascular-and-metabolic-dysfunction-in-syngap1-related-disorders-pr28/ Devinsky (https://Syngap.Fund/PR29)https://curesyngap1.org/blog/six-patient-advocacy-groups-collaborate-to-co-fund-a-single-center-observational-study-of-seizure-types-in-rare-genetic-epilepsies-pr29/ UFD Tech Cure Stream - 6 days + 21 hours of live-streaming from Pittsburgh!  September 23 3:00 Eastern to Sept 30 noon.  https://www.justgiving.com/page/ufd-2024 https://www.youtube.com/watch?v=DtOyV2FNJ-s PRESS ABOUT FOF (Friends of the Fund) Stoke: https://www.businesswire.com/news/home/20240910810707/en/Stoke-Therapeutics-Presents-Zorevunersen-Data-Showing-Substantial-Reductions-in-Seizures-and-Improvements-in-Multiple-Measures-of-Cognition-and-Behavior-That-Support-the-Potential-for-Disease-Modification-in-Dravet-Syndrome RESEARCH UPDATE There are 297 papers on or related to SYNGAP1 since 1998, but 37 of those are in 2024!  Now tied for 2nd place with 2009, 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: Missense Server Case Study: https://academic.oup.com/bib/article/25/6/bbae458/7765456?login=false Rat GAP Paper: https://www.cell.com/cell-reports/fulltext/S2211-1247(24)01084-2 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!  CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/ Scramble for Syngap - 11 days! - October 5, Greer, South Carolina over $20k https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/ TV! https://www.wspa.com/your-carolina/scramble-for-syngap/ SynGAP Research Fund Gala - 24 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 $8,173 https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research  Charmander $5,303 https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander YOU? https://curesyngap1.org/blog/fundraising-the-backbone-of-research/ 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 Episode 150 of #Syngap10 - Tuesday, September 24th, 2024