SynGAP10 weekly 10 minute updates on SYNGAP1
Business:Non-Profit
TOGETHER WE ARE STRONGER
- 1,400 strong, thank you Jess & team. https://curesyngap1.org/blog/syngap1-census-2024-update-61-in-q1-2024-total-1400/
- Stoke webinar: one of the most important considerations for deciding which disease to work on was, “…how strong is the patient advocacy group?”
- Stoke CMO Barry Ticho, MD, PhD, FACC during webinar 4/2/24 to discuss findings of STK-001
WELCOME AND CONNECT
- New parents are coming fast, reach out to them, tell them how much hope to have.
- Connect, connect, connect.
- San Diego next week: https://curesyngap1.org/resources/movies/jaxon/
- Hope https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/
- TU to Emily Barnes who is at FasterCures meeting today in Boston, see #S10e98 to see my thoughts about this workshop https://www.youtube.com/watch?v=iOLjUdVUtqo
TEAM IS GROWING
BOARD - https://www.eurekalert.org/news-releases/1038978
CSO - https://www.eurekalert.org/news-releases/1040061
COO - You?
PRESS
- UK https://www.channel4.com/news/govt-send-funding-boost-still-billions-short-says-tory-mp-with-affected-family/
- GA https://www.gpb.org/news/2024/04/03/80-of-rare-diseases-are-genetic-thats-why-whole-genome-sequencing-can-help/
What does my genetic report mean?
We wrote a blog, but as I’ve had this conversation a few dozen times, my answer is simpler now. Is it missense or is it truncating? If missense, do more research, if truncating, it is in the first 4 exons (p. Address of 129 or lower).
Who else has it? Look on ClinVar and call SRF.
Blog: https://curesyngap1.org/blog/understanding-your-genetic-report-with-syngap1-a-rare-disease/
STUDIES
https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/
CHOP: ENDD@chop.edu
Adults:
- Press Release: https://www.eurekalert.org/news-releases/1040062
- Study Info: https://drive.google.com/file/d/1tOdodcV7E5ROOHWyLn8a48x1WNBOr-U2/view
QOL: https://Syngap.Fund/QOL24 39 and counting.
#Sprint4Syngap 2024
Total: $168,572 from 347 people
Tavilla: $126,385 from 62
Big thanks to them and all teams especially those already over $1k, Phoebe, Kaia, Louie, Kiera, Theo, Hadley & Gracyn.
https://curesyngap1.org/events/featured/sprint4syngap-2024/
https://givebutter.com/ALjJXJ
REPURPOSING
- NAL, blog coming.
- Ravicti, enrolled, and blog on Butyrate coming.
- Nortriptyline, has been game changing, discussing a larger trial.
REFLECTIONS
- Family Medical Leave Act #FMLA https://www.dol.gov/general/topic/benefits-leave/fmla
- Homeschooling… again, avoid the kneejerk. See #S10e64 https://www.youtube.com/watch?v=01uhSjxGgGE
- Tony update. Grateful and grieving.
SOCIAL MATTERS
967 Subscribers on YouTube. https://www.youtube.com/@CureSYNGAP1
3,483 Subscribers on LinkedIn. https://www.linkedin.com/company/18940628/admin/feed/posts/
Socials matters so we can find more people, like this: https://curesyngap1.org/blog/an-emotional-journey-begins-after-a-syngap1-diagnosis/
Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 138 of #Syngap10 - April 4, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
Study Invitation - Everyone with a laptop can help us make an easy at home validated measure to de risk clinical trials. Sign up now for this #SRFunded effort - #S10e122 #SRFFrazier
SYNGAP1 Missense Variants: SRF Awards Turku $100,000 to Investigate Using Structural Bioinformatics - #S10e121
Meetings Matter. Join this community at the #SyngapConf. The Gala was a hit (again). And our report from #PCEM2023. Vicky’s at #Bio - #S10e120
“I’m afraid to Hope again…” & Melissa – Reflections on ENDD at CHOP, #UFDCure Cannonball, Scramble - #S10e119
#SyngapCensus, #UFDCure Cannonball, Scramble, PRAX-222 & ciitizen, and a #mustread — #S10e118
Plan on #RDW now, it’s been a banner week for high quality SYNGAP1 info - Cannonball is next week! — #S10e117
Getting ready for Global Genes, Cannonball Scramble Gala & the SYNGAP1 Conference — #S10e116
Katrien Deckers reflects on European 🇪🇺 Epilepsy Conference - #S10e115 (Volume up)
Naya, Pods, ILAE, Warriors, Talking to Pharma, Monica H. is doing Cannonball! Another week in Syngap-land — #S10e114
Fondo sets the bar for LatAm Engagement, Samar’s interview, Andrade’s paper, the 2nd Soiree was a hit, grants are rolling in! — #S10e113
Stanford Grant, CSC, UCSF Study, SYNGAP1 Case Report, Conference - #s10e112
So much news, double catch up episode. #S10e111
Adam’s Camp is amazing & so are compression vests #S10e110
FAQs for SRF’s SYNGAP1 Conference 2023 #SYNGAP1 #SRFconference #Orlando #S10e109
Happy Birthday SRF! Five years of making the future better! #FasterCures #UCLA #EEG #S10e108
Inspiring Events, Family Video & Important Studies. *Note the CINEMAS TRIAL for Epidiolex - #S10e107
THREE studies to join, animal models to celebrate, webinars to watch, TWO articles (Memphis & Chicago), blogs en español & pods to listen to, SO MANY EVENTS TO COME TO, also SRF in Mexico!
This is the ENDD of excuses. Sign up for the CHOP ENDD Study - #S10e105
Connection for Science - #S10e104
All About #Sprint4Syngap 2023! #S10e103
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