UFDTech, Eye-tracking, Praxis #DEEpDive, Stoke, Lacoste, Devinsky, #SRFConf, #S10e150
CURE SYNGAP1 PODCAST aka SYNGAP10
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Show Notes
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
- 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)
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
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
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
SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US
- 1,140 YouTube. https://www.youtube.com/@CureSYNGAP1
- 3,789 LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 11,736 Twitter https://twitter.com/cureSYNGAP1
- 48k Insta https://www.instagram.com/curesyngap1/
- 439 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 Apple Podcast Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 150 of #Syngap10 - Tuesday, September 24th, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1