Progress in Studies, Trials & Community Milestones; Conference #S10e153

02/11/2024 9 min Episodio 153
Progress in Studies, Trials & Community Milestones; Conference #S10e153

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Episode Synopsis

STUDIES AND A TRIAL
FRAZIER https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/
CHANGES (UK) https://curesyngap1.org/resources/studies/changes-study-adults-an-investigation-into-behaviour-and-physiology-in-syngap1/
PNO https://curesyngap1.org/resources/studies/pregnenolone-treatment-trial-for-individuals-with-autism/
 
Science:
Chow Press - https://curesyngap1.org/blog/dr-clement-chow-at-the-university-of-utah-receives-support-from-syngap-research-fund-srf-to-accelerate-therapeutic-development-for-syngap1-related-disorders-pr30/
Sohal Webinar - https://curesyngap1.org/resources/webinars/94-targeting-gamma-oscillations-to-improve-cognition/ or https://fb.watch/vBYXj4FY7A/ 

 
Conference - Conference is 1 month away!
Lineup: Science Day lineup - https://x.com/curesyngap1/status/1851723428677456093
Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/

Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267
Friday Join us for dinner! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-caregiver-dinner

 
RESEARCH UPDATE
There are 304 papers on or related to SYNGAP1 since 1998, but 46 of those are in 2024!
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded
Latest is from Canada, where they look at the impact of SYNGAP1 on auditory cortex function, social behavior and ability to extinguish fear memories.
https://www.jneurosci.org/content/early/2024/10/08/JNEUROSCI.0946-24.2024.long
 
FUNDRAISING
    - Coast2Coast Challenge $92,754 Syngap.Fund/C2C 
   - Missense Account of the Fund $25,940
https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund
   - Charmander $10,585
https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander
  - Emmy $8,347
https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research 
 
Minted Cards - 20% discount, 15% to SRF, code FUNDRAISESYNGAP - https://Syngap.Fund/Minted
 
Lovely blog on Scramble: https://curesyngap1.org/blog/swinging-for-a-cause-the-3rd-annual-scramble-for-syngap1/
 
ZOOM BACKGROUND
https://drive.google.com/file/d/13jhPIBo-o1sHchEJz6KttocT1_h7GKZE/view?usp=sharing 
 
VOLUNTEER 
https://curesyngap1.org/volunteer-with-srf/
 
FUNDRAISE
https://syngap.fund/FR 
CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/
 
SOCIAL MATTERS
 - 1,200 YouTube.  https://www.youtube.com/@CureSYNGAP1 
 - 3,818 LinkedIn.  https://www.linkedin.com/company/curesyngap1/
- 11,889 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 153 of #Syngap10 
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

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