Jake Wuest

Board Member Jake lives in Colorado Springs with his wife, Becca, and their two sons, Evan and Cooper. After Cooper’s diagnosis with MED13L in 2024, the Wuest family became dedicated to supporting the MED13L community and advancing awareness and research. Jake joined the MED13L Board of Trustees in 2025, inspired...

https://med13l.org/team-member/jake-wuest-2/

Jake Wuest

Jake lives in Colorado Springs with his wife, Becca, and their two sons, Evan and Cooper. After Cooper’s diagnosis with MED13L in 2024, the Wuest family became dedicated to supporting the MED13L community and advancing awareness and research. Jake joined the MED13L Board of Trustees in 2025, inspired by the...

https://med13l.org/team-member/jake-wuest/

Phil Buta

Phil joined the MED13L Foundation because he was moved by the strength and determination of the families who make up this community. He focuses on supporting families, building partnerships, and helping drive the research needed to better understand MED13L Syndrome and improve the lives of those affected by it. Phil...

https://med13l.org/team-member/phil-buta/

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/