#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!
– 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
