Institution: COMBINEDBrain
Inclusion Criteria: All those diagnosed with SYNGAP1-Related Disorders, siblings, and biological parents (especially those of same gender as Syngapian). Samples can be collected as often as every 6 months.
Regular Sampling Helps! Providing blood samples every 6-12 months helps see how a Syngapian’s blood changes over time. When their biological sibling(s) and parents also give blood, their changes can be compared as well.
What Does This Do? COMBINEDBrain will be collecting urine samples and blood samples (processed for plasma and a finger stick) to be stored in the CB Biorepository and available for select biomarker projects as well as other interested researchers.
Where? Dates and locations for 2026 are below and will be updated periodically when more information and/or additional sites are available. For a complete and updated list with addresses, go to this link.
- June 25-26 Concord, NC
- June 26-27 Ann Arbor, MI
- June 27-28 Boston, MA
- July 17 Bethesda, MD
- July 18-19 Philadelphia, PA
- July 18 Boston, MA
- July 20 Galveston, TX
- July 23-24 Atlanta, GA
- July 24 San Antonio, TX
- August 8 Cambridge, MA
- October 8-9 Boston, MA
- October 9-10 Philadelphia, PA
- November 7 Austin, TX
- November 11 Houston, TX
- December 3-4 Denver, CO (at the CURE SYNGAP1 Conference)
How to sign up: email Lauren Perry at lauren@cureSYNGAP1.org with the following information for each person from whom samples will be drawn:
About the SYNGAP1 Patient:
1. Full Name:
2. Previous Donor? (Yes / No / Unsure) — Has the participant already consented and donated to the COMBINEDBrain Biorepository?
About the Parent/Guardian:
3. Name of Caregiver (providing consent):
4. Email Address:
5. Phone Number:
*A Note on Controls: Where possible, we also need a sample from a same-sex family member (parent or sibling) closest in age to the patient to act as a control. If a control participant is available and has not donated before, please include their name as well.
Read about family experiences giving samples at the COMBINEDBrain Roadshow: Fueling Research: SYNGAP1 Families Contribute to the COMBINEDBrain Biorepository Roadshow
