#RareOnTheHill and #SRFboard in DC were epic. It’s going to be a great, year, get some #RareBrewCoffee! #S10e135

DC was epic, come next year!

- Board Meeting and Leadership Team.

- Rare on the Hill - Nancy, John, Vicky, Kathryn, Marta, Suzanne, Jess Johnson!  

https://www.facebook.com/suzanne.v.jones/posts/pfbid02pMjKxryjDej62FM2RRA6afyU5JPkdB37dXzVrXMLFzjsWmRTQV2wtR3BNaaFcTK4l

- Last week of Feb, don’t miss it.

 

#RareBrewCoffee has launched!

https://rarebrewcoffee.com/ use code SRF10

 

Reflecting on the latest Rick Huganir paper

- This was in part supported (as acknowledged) by our first grant, 5 years ago we funded 10x that last year.

- We are not a Rasopathy!  https://x.com/cureSYNGAP1/status/1763644994685153654?s=20 

- We need to have Prof. Huganir do a webinar!

 

#DEI #SyngapWhileBlack Nice work Petersen family

https://qcitymetro.com/2024/02/23/syngap-1-syndrome-autism-epilepsy-treatment/

 

State Coordinators and Advocates Sign up

- We’re looking for state representatives and state advocates - fill out this form if you’re interested - https://docs.google.com/forms/d/e/1FAIpQLSfPWiyvAPuKif-h2bbMBqUKVLMeOeK-ISehbM9PvnReXMRjZg/viewform

- Syngap1 Stories Episode 27 - guest host Jessica Johnson with guest Jackie Kancir - released 3/2. Syngap.Fund/Stories

 

We still do warriors, 198 is from Poland!

- https://x.com/cureSYNGAP1/status/1763006900939956252?s=20

- https://curesyngap1.org/syngap-warriors/igor/
- Are you are warrior yet? https://curesyngap1.org/syngap-warriors/

 

Repurposing - Thought for the week

- When you try a new molecule, any new molecule, take notes, videos and pictures. 
- IF a drug increases cognition, expect frustration, at first.
- Make sure you watch episode 134, even if it’s long because I really go deep on repurposing.  https://youtu.be/luhVxDEXlcU?si=BUmyKmTkOvFMVN5Z 

 

Notes, all on Youtube, make sure you subscribe there - 935 today let’s get to 1,000

https://www.youtube.com/@CureSYNGAP1

 

List of repurposed drugs:

• Ravicti® (glycerol phenylbutyrate) - https://www.youtube.com/watch?v=Rwwdifsu1g8
• Butyrate - https://www.youtube.com/watch?v=hjl9Z5_uQws
• NAL - https://www.youtube.com/watch?v=TphYC3o2BJQ 
• Pamelor® (nortriptyline) - https://www.youtube.com/watch?v=z0BdjDaWiMs 
• Fycompa® (perampanel) - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10469904/

 

Siblings - Order a kit, thank you UCB @UCBUSA 

https://curesyngap1.org/sibling-support/

 

Ed’s notes:

- Aaron Harding guest on DeafBlind Potter Podcast - "Navigating Life's Challenges: A Journey with SynGAP - An Interview with Aaron Harding" - https://youtu.be/cagNgqmolgk?si=s9vAX1_jl07e4kOY

- Jansen Jones, daughter of BOD chair Suzanne, was one of two rare disease children featured in a Rare Disease Day article by Children’s Healthcare of Atlanta - https://drive.google.com/file/d/18lPSXcciyK3OHnSWDXxy1DDVZZvPc-sY/view

- Newsletter issue 37 (2/25) includes these and more - https://curesyngap1.org/newsletter/

 

Scholarship

- UCB USA Family Epilepsy Scholarship

   - Blog - https://Syngap.Fund/UCB24

   - Diagnosed with Epilepsy or immediate family member or caregiver

   - Seeking higher education

   - Application deadline March 15 https://drive.google.com/file/d/1PtAJfqOUkeXhX2NsyxvkB9A-pEHei5pc/view 

 

Fundraising

- Get Ready for Sprint - save the date 4/27/24 - sign up your teams now; Rifton is giving away another adaptive tricycle to a team who raises $500+ - Syngap.Fund/Sprint24  https://www.rifton.com/  (12 teams signed up as of 3/2 - we had 28 teams in 2023; already have $26,000+ in donations!!! Still a ways to go before we beat last year’s record.)

- MDBR 6/8 - link to 2023 blog https://curesyngap1.org/blog/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration/ 

- S.Carolina3rd annual Scramble 10/5 - link to past events is here:  https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2023/ 

- 3rd SYNGAP1 Conference, hosted by SRF in LA

   - Pre-register to receive updated info when it’s ready https://Syngap.Fund/24Pre

   - Planning committee needs volunteers; if interested in helping, contact stacey@curesyngap1.org #SyngapConf

 

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 135 of #Syngap10 - March 3, 2024

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