Grateful and grieving. SRF is growing with our community, all 1,400 of us! #S10e138

2024-04-04

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.

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

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