Biorepository for STXBP1
The STXBP1 Foundation has established a biorepository in partnership with COMBINEDBrain, a research organization supporting multiple rare neurodevelopmental conditions. Families can provide biosamples, which are important tools for researchers to advance STXBP1 research.
Why is this important?
We are collecting samples to support development of therapies and identification of biomarkers. Blood samples and iPSC cell lines are available to STXBP1 researchers globally. Every sample brings us one step closer to breakthroughs in treatment and care for our kids!
How to get involved
Providing samples at STXBP1 Summit and Patient Conferences
If you can’t join us at the STXBP1 Summit, you can also provide samples at one of these patient conferences where COMBINEDBrain will be collecting biosamples. Reach out to research@stxbp1disorders.org to contribute biosamples at one of these events:
Contact research@stxbp1disorders.org to complete a Consent form prior to the meeting or complete the Consent at the conference.
STXBP1 Summit, Philadelphia, PA, July 19-21, 2024
Myhre Syndrome Conference: Philadelphia, PA, July 27-28, 2024
HNRNPH2 Conference: Seattle, WA, July 29-30, 2024
Hao-Fountain Syndrome Conference: Atlanta, GA, September 24, 2024
PWS/USP7 Conference: Atlanta, GA, September 26-27, 2024
COMBINEDBrain Conference: Kansas City, MO, September 29, 2024
CURE GABA-A, SYNGAP, SLC6A1 Conferences: Los Angeles, CA, December 4-5, 2024
Providing samples at Home
If you are unable to attend any of these locations to provide samples in-person, home collections using a mobile phlebotomist are available in certain areas of the US. Contact research@stxbp1disorders.org to see if that is an option where you live.