ProMMiS Data Webinar up! New Board Sprint4SynGAP @ $168K! Catatonia ASO?s Siblings Missense #S10e169

Tuesday, April 15, 2025 – Week 16

 

CURRENT NEWS

#Sprint4Syngap 2025 is in eleven days! Start or join a team and fundraise!

https://curesyngap1.org/sprint25 look at these faces, $167,979 of which $145k+ fromTavillas! 

 

Board Announcement: https://www.eurekalert.org/news-releases/1080490

 

LEARNING ABOUT SYNGAP1

ProMMiS NHS Webinar from Dr. McKee: https://youtu.be/zozwf1NDB5I we were waiting for this great paper: https://www.sciencedirect.com/science/article/abs/pii/S1098360025000668 which I discussed in #S10e167.

 

Also, learn from Dr. Knowles, Apple Pod: https://podcasts.apple.com/us/podcast/stanford-medcast/id1529672674

YT https://youtu.be/VBWa0FklYJs

 

• Catatonia, watch these when you can: https://www.linkedin.com/posts/activity-7316937356194844672-PoUi/

 

• Please ask me your ASO Questions - https://www.youtube.com/watch?v=1I0sRVZTY-A  For instance, these won't repair, but they will will upregulate... = make work harder.

MORE NEWS

In #S10e168 I talked about Drs Bowie & Willsey, this week I can applaud Postilla!

https://www.linkedin.com/posts/inflames-research-flagship_making-sense-of-missense-in-a-rare-children-activity-7316376546833833986--Qoc/

 

SIBLINGS

Tell your story, please for the other ones.

https://curesyngap1.org/syngap-siblings/shanaye-worth/

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

 

PUBLICATION COUNT

PubMed is at 17 YTD, 325 in total (trending to 52+, but I’m not as confident)

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&timeline=expanded&sort=date&sort_order=asc

 

SHARE BLOOD TO THE SRF BIOBANK AT CB!

Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/

 

VOLUNTEER 

Join us: https://curesyngap1.org/volunteer-with-srf/

 

SOCIAL MATTERS

- 4,009 LinkedIn.  https://www.linkedin.com/company/curesyngap1/
- 1,334 YouTube.  https://www.youtube.com/@CureSYNGAP1 

- 11,369 Twitter https://twitter.com/cureSYNGAP1

- 46k Insta https://www.instagram.com/curesyngap1/ 

 

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources 

 

Podcasts, give all of these a five star review!

https://cureSYNGAP1.org/SRFApple 

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

 

Episode 169 of #Syngap10 

#Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS