Help advance research for MED13L Syndrome by participating in our biorepository in partnership with COMBINEDBrain. The biorepository is a secure and centralized collection of biological samples that researchers can access to study the underlying biology of MED13L and develop future treatments.
What is collected?
- Saliva, blood, and/or urine samples from individuals with a confirmed MED13L diagnosis
- (Optional) Samples from parents or other immediate family members
- Consent for researchers to access de-identified samples and related clinical information
Why participate?
- Enable cutting-edge research on gene function, disease mechanisms, and treatment pathways
- Contribute to a shared scientific resource that accelerates discoveries across multiple institutions
- Build infrastructure for future clinical trials, including biomarker development and therapeutic targeting
Who can participate?
- Individuals with a confirmed MED13L diagnosis
- Living or deceased individuals (postmortem donation options available)
- Global participants welcome – multilingual support is available
How do I sign up?
Email rheilmann@med13l.org to learn more and begin the consent process.
Your participation ensures that scientists have access to the biological data they need to better understand MED13L Syndrome. Together, we are building the foundation for tomorrow’s breakthroughs.
2025 Roadshow Locations
| Hosting PAG(s) | Dates | Location | Collection Site Address |
|---|---|---|---|
| Hereditary Neuropathy Foundation | April 24–25 | Nashville, TN | Sonesta Nashville Airport, 600 Marriott Dr, Nashville, TN 37214 |
| United Mitochondrial Disease Foundation | June 19–20 | St. Louis, MO | Hyatt Regency St. Louis At The Arch, 315 Chestnut St, St Louis MO 63102 |
| Prader Willi Syndrome | June 27–28 | Phoenix, AZ | Arizona Grand Resort & Spa, 8000 South Arizona Grand E, Phoenix, AZ 85044 |
| Med13L Foundation, CTNNB1 Connect & Cure | July 11–12 | Boston, MA | Embassy Suites by Hilton Boston Waltham, 550 Winter Street, Waltham, MA 02451 |
| CSNK2A1 Foundation | July 18–19 | Denver, CO | Embassy Suites by Hilton Denver Central Park, 4444 Havana Street, Denver, CO 80239 |
| STXBP1 Foundation | July 19–20 | Westminster, CO | The Westin, 10600 Westminster Blvd, Westminster, CO 80020 |
| The Stiff Person Syndrome Research Foundation | July 19–20 | Windsor Locks, CT | Sheraton Hartford Hotel at Bradley Airport, 1 Bradley International Airport, Windsor Locks, CT |
| ZTTK SON-Shine Foundation | Aug 9–10 | Cambridge, MA | Royal Sonesta Boston Hotel, 40 Edwin H Land Blvd, Cambridge, MA 02142 |
| KCNQ2 Cure Alliance | Sept 26–27 | Philadelphia, PA | DoubleTree by Hilton Hotel Philadelphia Airport, 4509 Island Ave, Philadelphia, PA 19153 |
| SRF, Cure GABA-A Variants, SLC6A1 Connect | Dec 4–5 | Atlanta, GA | TBD |
- Ongoing Opportunity
