Many caregivers for individuals with MED13L Syndrome report symptoms of tiring easily, low muscle tone, and overall lack of energy—this is exactly where understanding the health of the mitochondria in your kid’s cells is crucial!
Since the MED13L gene is most prevalent in skeletal muscle and the Central Nervous System (CNS), it is even more important to focus on making sure mitochondria are in tip-top shape—they are the energy producers of the cell after all!
Currently, Dr. Alicia Campbell has shown that mitochondrial dysfunction is present in all MED13L patient-derived samples (12 skin biopsies collected with Dr. Jen Bain @ Columbia), regardless of variant. Now, she is focusing on which FDA-approved drugs might help overcome this dysfunction at the cellular level, with the goal to eventually bring this to the patient population.
Her current research is funded by a 1-year Post-Doctoral Fellowship through the MED13L Foundation, where she is testing various drugs for their efficacy in restoring cellular energy and function.
