It’s been a month, in that time we’ve had a few important webinars, published lots of wonderful content & attended BIO in Boston this week. Thank you Virginie for going to BIO

https://www.linkedin.com/posts/virginie-mcnamar_bio2025-theworldcantwait-raredisease-activity-7341849619028430848-I_FD 

Ambry was awesome https://www.linkedin.com/posts/graglia_syngap1-ambryknowsgenes-activity-7336183874890231809-Beua 

CURE SYNGAP1 CONNECT

https://curesyngap1.org/curesyngap1connect/

CAMP4 Update - Hear it from them, in our US or EU Webinar.

 US https://curesyngap1.org/resources/webinars/106-srf-us-know-about-asos-before-syngap1-clinical-trials-camp4-case-study/

 Tuesday Sept. 9th, 2025, 5 PM Pacific also already scheduled!

https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/

STUDIES - MATTER

 ORTAS (need many, 27 signed up, 8 completed.)

https://curesyngap1.org/resources/studies/ortas-observer-reported-toileting-abilities-survey/

 BEACON (need 7) https://curesyngap1.org/resources/webinars/98-dreem-eeg-headband-to-assess-sleep-eeg-biomarkers-in-syngap1/

“Dear Families,

This is a brief update on the Communication abilities in Children with Genetic Conditions study.

The Communication abilities in Children with Genetic Conditions study collected parent-reported data on communication ability from 113 families and direct speech and language data from 33 children. Data collection has now closed and research reports are in preparation for the three most successfully recruited conditions; KBG syndrome, SYNGAP1-related disorder, and differences in MED13L. While the study was initially open to a wider group of single-gene conditions, it was only possible to recruit full data sets and large enough samples to produce high quality research reports for these three conditions. While not all of the data collected from families will be included in the research publications, all of the data provided by families has been extremely valuable to the study. Where permission has been given, anonymised data will serve as valuable pilot data to support future funding applications for research on relevant gene conditions.

We thank all families for their valued time and participation in the project. Further updates will share our research reports as they become available.

With best wishes,

Harriet and the Communication abilities in Children with Genetic Conditions study team.”

PRESS

 JJ in MD https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-activity-7331703029949267969-7AeK/

 Stories #34 with Jo Ashline https://curesyngap1.org/podcasts/syngap1-stories/

 Warriors Santiago, Axel and Issac! https://curesyngap1.org/syngap-warriors/

 Cafe SYNGAP1 with Dina from NY https://curesyngap1.org/podcasts/cafe-syngap1/dina/

 NL45 https://mailchi.mp/curesyngap1.org/make-a-splash-for-syngap1-awareness-45

FUNDRAISING

Sprint Blog is Epic https://curesyngap1.org/blog/sprint4syngap-raises-over-200k-for-syngap1-in-5th-annual-fundraiser/

MDBR just happened Four team members raised $15,795 so far. Thanks to Heather Mestemaker, Justin Albrecht, Aaron Harding, and Alicia Harrison. https://cureSYNGAP1.org/MDBR

Harper $5k match! https://donate.curesyngap1.org/campaign/694764/donate

Story https://donate.curesyngap1.org/campaign/695981/donate

Thank you for your support, still matching! https://donate.curesyngap1.org/campaign/693597/donate

Pubmed is at 24 (so less than one a week…)

Harrison paper on early exons and inherited mutations is great… https://www.eurekalert.org/news-releases/1088068 

Cunnane DCM is out and Ingo noticed!

She spoke at SRF Conference https://www.youtube.com/watch?v=nXagMfYh9VA 

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

- 4,185 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ 

- 1,380 YouTube.  https://www.youtube.com/@CureSYNGAP1   

- 11,314 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 173 of #Syngap10 

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