Grateful and grieving. SRF is growing with our community, all 1,400 of us! #S10e138
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: [email protected]
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://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
