AES & SYNGAP1 Conf were great for SynGAP. 2 wks left to raise funds in ‘24 - #S10e156

Tuesday, December 17, 2024

 

Cure SYNGAP1 Conference - Resounding success https://curesyngap1.org/events/conferences/syngap1-conference-2024/

Summary: http://www.draccon.com/dracaena-report/2024aes

A few comments:

• https://www.linkedin.com/posts/richardnovak_clinical-rare-activity-7270806450090786816-m0OV
• https://www.linkedin.com/posts/haley-tokars-1b2b38209_i-had-the-privilege-of-attending-my-first-activity-7272056324090159104-xFSZ
• https://www.linkedin.com/posts/citizen-health-inc_aes2024-rareasone-activity-7270694148825845760-AIzF
• https://www.linkedin.com/posts/graglia_syngap-dreem-eeg-activity-7271993151131660288-GESy
  https://www.linkedin.com/posts/praxis-precision-medicines-inc_epilepsy-aes2024-ugcPost-7273392536130355200-x2pq
  https://www.linkedin.com/posts/syngap1-argentina-382156240_por-tercer-a%C3%B1o-consecutivo-syngap-argentina-activity-7271911668522098688-JlrW
• https://www.linkedin.com/posts/stoke-therapeutics_aes2024-epilepsy-activity-7273445932107538433-akYf

Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25, 

 

https://investor.stoketherapeutics.com/events/event-details/understanding-dravet-syndrome-unmet-need-and-potential-disease-modification

STUDIES AND TRIALS ARE HAPPENING NOW - https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/

Two trials to consider

https://med.stanford.edu/autism/studies/pregnenolone-randomized-controlled-trial.html age 14-25

https://deepdeestudy.com/ list of sites: NJ & FL

 

BONES

• https://youtu.be/RhaJnruZCzk?si=bnPtYPsRhOChfsH0 
• https://curesyngap1.org/blog/navigating-a-lifetime-of-diagnoses-michaels-syngap1-journey-and-the-effects-of-anti-seizure-medications-on-bone-density/

 

FUNDRAISING

• Coast2Coast Challenge $207,974 Syngap.Fund/C2C 
• Join my team! https://secure.givelively.org/donate/syngap-research-fund-incorporated/coast2coast-clinics-challenge
• FUNDRAISE https://syngap.fund/FR 
• CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/

 

VOLUNTEER SPOTLIGHT: 

Stacey Miller https://curesyngap1.org/team/leadership-team/stacey-miller/

Laura Bermingham of SLC6A1 https://curesyngap1.org/team/volunteers/laura-birmingham/ 

 

RESEARCH UPDATE

There are 310 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded

Latest are from Willsey & Frazier.

Willsey: https://www.biorxiv.org/content/10.1101/2024.12.05.626924v1

Frazier: https://onlinelibrary.wiley.com/doi/full/10.1002/aur.3290

 

VOLUNTEER 

https://curesyngap1.org/volunteer-with-srf/

 

SOCIAL MATTERS

- 1,240 YouTube.  https://www.youtube.com/@CureSYNGAP1 

- 3,883 LinkedIn.  https://www.linkedin.com/company/curesyngap1/

- 11,739 Twitter https://twitter.com/cureSYNGAP1

- 47k Insta https://www.instagram.com/curesyngap1/ 

- 464 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 156 of #Syngap10 

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