The MED13L Foundation has funded some significant research efforts with our partners and members of our scientific advisory board.
Therapeutic Advances for MED13L Syndrome: Drug Repurposing Studies to Combat Mitochondrial Dysfunction
EEG Brainwave & Biomarker Study
ASO Treatment Discovery Study
Natural History Study of MED13L Syndrome with Boston Children’s Hospital
Exploring the Impact of Disease Modifying Compounds in MED13L Patient-Derived Cell Lines
Physiological and molecular signatures in mouse models of MED13L syndrome
Extension of the understanding of the role mitochondrial dysfunction plays in the pathology associated with MED13L syndrome mutations
In order to support the MED13L Foundation cause it is critical that we get more people involved in hosting and sponsoring events to raise money and awareness.
Denver, Colorado, December 4th, 2026. This December, MED13L families will gather in person at the Grand Hyatt Denver. The day brings our community together around the latest MED13L research and the chance to spend real time with one another. Early bird pricing available!
