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

 

 

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


Отзывы


Podcastly – лучшая платформа для любителей подкастов. Более 10 миллионов аудио контента доступных на Android/iOS/Web/Desktop и Telegram.