Gut Microbiome Study in MED13L Syndrome

New Research Study Alert! Stool Collection Needed to Study the Gut Microbiome in MED13L Syndrome. 💩 Dr Mohammad Moshahid Khan from University of Tennessee is studying how genetic neurological disorders affect the gut microbiome, muscle function and the genome. 👩🏽👶🏽What is needed: 🔹 Consent and testing materials will be sent to your...

https://med13l.org/research-opportunity/gut-microbiome-study-in-med13l-syndrome/

Protected: Road Full of Promise

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https://med13l.org/roadfullofpromise/

Unravel Biosciences x COMBINEDBrain

 Last Call for Nasal Swabs! We’re helping power the Unravel Biosciences x COMBINEDBrain drug repurposing study — and we need YOUR help! What’s needed:  COMBINEDBrain ships everything to your home. Learn more in this UnravelingRare episode featuring our President Katie Boychuck and partners from SYNGAP1, COMBINEDBrain & Unravel Bio.  Interested? Email rheilmann@med13l.org

https://med13l.org/research-opportunity/unravel-biosciences-x-combinedbrain/

MED13L Registry Enrollment

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https://med13l.org/research-hub/join-med13l-research-opportunities/med13l-registry-enrollment/

Site Search

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https://med13l.org/site-search/

New Diagnosis Help

Not sure where to begin? We’re here to help you. Receiving a new diagnosis for your child can be a challenging and emotional journey, but you are not alone. We’re here to warmly welcome and support you as you connect with our rare and compassionate community. Consider this your comprehensive...

https://med13l.org/knowledge-base/new-diagnosis-help/

ORTAS – In collaboration with CombinedBrain

https://med13l.org/research-opportunity/ortas-in-collaboration-with-combinedbrain/

MIND Study – Natural History of MED13L Syndrome

The MED13L Foundation is partnering with Boston Children’s Hospital’s Rosamund Stone Zander Translational Neuroscience Center to launch the MIND Study (MED13L Syndrome Investigation of Natural History and Development)—a groundbreaking three-year research initiative. This study will: 💡 Up to 30 families will be enrolled (20 in person, 10 virtually) per year....

https://med13l.org/research-opportunity/mind-study-natural-history-of-med13l-syndrome/

The MED13L Biorepository in collaboration with COMBINEDBrain

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? Why participate? Who can participate? How...

https://med13l.org/research-opportunity/combinedbrain-biorepository/

Citizen Health

Citizen Health is a secure, digital platform that helps families gather and manage their medical data while contributing to research. Citizen works in collaboration with RARE-X and Simons Searchlight, not as a replacement. Together, these two platforms provide a more complete picture of the MED13L journey: Used together, they create...

https://med13l.org/research-opportunity/citizen-health/