#SRFadvocates, #ColinFarrellFoundation, Adult Advocacy & the Best Science Team Ever #S10e147
Episode Description
šFull show notes: https://syngap.fund/n147Ā
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FDA Talk this week!Ā Thank you Beacon! https://syngap.fund/fda24Ā Ā Ā
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SRF ADVOCACY - Donāt miss the chance to beef up your advocate muscles, after we get through FDA, the fun has just begun.Ā JK & JJ are amazing.Ā
https://curesyngap1.org/team/leadership-team/jackie-kancir/Ā
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ADULT ADVOCACY
SRF & UBC: https://curesyngap1.org/adults-with-syngap1-caregiver-resources/ also /Adult
Interview: https://www.youtube.com/watch?v=JDiD8Z3lWQk
Foundation: https://colinfarrellfoundation.org/
WaPo Article: https://www.washingtonpost.com/health/2024/08/08/what-is-angelman-syndrome-colin-farrell-son/
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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/
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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
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RESEARCH UPDATE
There are 292 papers on or related to SYNGAP1 since 1998, but 32 of those are in 2024!Ā We are more than on track to set a record this year with the biggest annual output being in 2023 with 43 papers.Ā Iāve seen multiple papers being submitted lately, itāa actually hard to keep up. Ā
LINK
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LATEST PAPER: https://www.eurekalert.org/news-releases/1053579
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FUNDRAISERS!
Go Australia! https://www.theland.com.au/story/8704556/support-syngap1-research-win-a-toyota-hilux-sr5/Ā
3 state advocates on website & 17 ambassadors with more coming - still need volunteers for many states! Contact Jackie (Adv) or Corey (Amb)
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Smarts for Syngap - DC Trivia Night - 24 Days!
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Scramble for Syngap - 55 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/
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SynGAP Research Fund Gala - 68 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/
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Missense Account of the Fund $21,684
https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund
Emmy $6,449
YOU?
https://curesyngap1.org/blog/fundraising-the-backbone-of-research/
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CALENDAR MANAGEMENT
Conference is 116 days away, WE HAVE A ROOMBLOCK & Registration is live!
https://curesyngap1.org/events/conferences/syngap1-conference-2024/
Conference Registration - 44 for Science Day (36 caregivers) & 52 for Family Day (36 caregivers, 13 kids/sibs)
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CB Blood Donation accelerates Science!Ā 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
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SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US
Ā - 1,070 YouTube.Ā https://www.youtube.com/@CureSYNGAP1Ā
Ā - 3,713 LinkedIn.Ā https://www.linkedin.com/company/curesyngap1/
- 11,168 Twitter https://twitter.com/cureSYNGAP1
- 48k Insta https://www.instagram.com/curesyngap1/
- 418 TikTok https://www.tiktok.com/@curesyngap1
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NEWLY DIAGNOSED?
New families have resources here! https://syngap.fund/ResourcesĀ
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Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
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Cafe Syngap1 #17
https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525?i=1000664777811
Episode 147 of #Syngap10 - Sunday, August 11th, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
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