Join Frazier Study, Combined Federal Campaign (33321), Unravel Study, new papers & Chronic Grief #S10e149

📝Full show notes: https://syngap.fund/n149

 

FRAZIER STUDY

https://Syngap.Fund/Eye2 khuba@jcu.edu 

 

SRD JOINS CFC #33321

https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/

 

PRESS ABOUT FOF (Friends of the Fund)

Praxis https://firstwordpharma.com/story/5891543

Unravel https://curesyngap1.org/blog/unravel-biosciences-and-syngap-research-fund-clinical-research-to-accelerate-new-and-repurposed-therapies-for-syngap1-related-disorders-pr27/

 

RESEARCH UPDATE

There are 295 papers on or related to SYNGAP1 since 1998, but 35 of those are in 2024!  Now in 3rd place, 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:

• Humanized Mouse from Penn: https://pubmed.ncbi.nlm.nih.gov/39229131/
• Behavioral Phenotype from Hopkins: https://pubmed.ncbi.nlm.nih.gov/38783394/
• Catatonia: https://pubmed.ncbi.nlm.nih.gov/39235394/ also on https://www.medrxiv.org/content/10.1101/2024.09.05.24312724v1 for meds for Profound Autism.  Recent talk: https://www.youtube.com/watch?v=JiOSKanKRfE

 

CHRONIC GRIEF

We have to talk about this.  We all need support.  Pretending this isn’t happening is a disservice to ourselves, our kids and our families.

 

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!

 

Smarts for Syngap - DC Trivia Night - Congratulations

 

Scramble for Syngap - 26 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/

TV! https://www.wspa.com/your-carolina/scramble-for-syngap/

 

SynGAP Research Fund Gala - 39 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 $8,147

https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research 

Charmander $5,150

https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander

YOU?

https://curesyngap1.org/blog/fundraising-the-backbone-of-research/

 

CALENDAR MANAGEMENT

Conference is 87 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 - 89 for Science Day & 88 for Family Day (incl 19 patients)

 

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

 - 1,090 YouTube.  https://www.youtube.com/@CureSYNGAP1 

 - 3,765 LinkedIn.  https://www.linkedin.com/company/curesyngap1/
- 11,600 Twitter https://twitter.com/cureSYNGAP1
- 48k Insta https://www.instagram.com/curesyngap1/
- 429 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 Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 149 of #Syngap10 - Monday, September 9th, 2024

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1