Don’t give up on your SYNGAPian at any age, Go Aaron! and advocacy matters - #S10e160

Tuesday, February 4, 2025 - Week 6

 

CONVO - Parent of 18 year old

• Travel now.
• Get meds under control fast
• Don’t do this alone
• Don’t give up on the adults
• Find doctors who want to learn and think, not dictate.

 

STUDIES OF THE WEEK - FRAZIER

https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/

Don’t underestimate this tool, please take part in this study.

 

Tracker page: https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/edit?usp=sharing 

 

ADVOCACY SHOUT OUT

https://www.linkedin.com/posts/sara-driscoll-mba-pe-ab904b49_rdla-syngap1-advocacymatters-activity-7290475540266831873-L2su/?utm_source=share&utm_medium=member_ios

 

REGULATORY UPDATE - Feb 4 at 4PM EST.

https://www.epilepsiesactionnetwork.org/post/calling-all-epilepsy-stakeholders-join-an-update-on-the-national-plan-for-epilepsy

 

EF on EPILEPSY
Instagram - Facebook - LinkedIn - X

 

RESEARCH UPDATE

There are 317 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!  So far 7 (but really 8 if you count Coller) for 2025.

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded

 

• • James Clements paper is exciting: https://pubmed.ncbi.nlm.nih.gov/39878322/
  • JC LinkedIn: https://www.linkedin.com/posts/james-clement-chelliah_epigenetic-modulation-rescues-neurodevelopmental-activity-7290365551879569409-X_6G/

 

VOLUNTEER SPOTLIGHT

Aaron Harding is tireless 

• Donate: https://giving.classy.org/campaign/661441/donate

• Video - https://youtu.be/7LprhkhyU5I

 

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

VOLUNTEER 

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

 

SOCIAL MATTERS

- 3,922 LinkedIn.  https://www.linkedin.com/company/curesyngap1/
- 1,270 YouTube.  https://www.youtube.com/@CureSYNGAP1 

- 11,550 Twitter https://twitter.com/cureSYNGAP1

- 47k Insta https://www.instagram.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 160 of #Syngap10 

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