Project Title

Extension of the understanding of the role mitochondrial dysfunction plays in the pathology associated with MED13L syndrome mutations

Overview

Mitochondrial function is HOT in the rare disease community! In the MED13L community, we’ve seen the posts about your kids’ symptoms and it resonates with the Board.

Dr Randy Strich and his awesome PhD Candidate, Alicia Campbell, published a paper on this topic recently, specific to MED13L. Based on the cellular dysfunction seen in a single patient provided sample, it has ignited a fire to understand if those changes would be consistent in  12 other individuals diagnosed with MED13L. If consistent dysfunction is shown, then there is opportunity for function to be restored with drug repurposing or new drugs!

This exciting research is funded by a 2 year grant through the MED13L Foundation. A huge thank you to donors, fundraising efforts, and the families who donated samples. If you participated, remember to fill out your RedCap Surveys from Dr Bain’s clinic!

Contributors

Dr. Randy Strich received his Ph.D. from the University of Illinois in Microbiology. Following his postdoctoral studies at the University of Chicago, he accepted a position at the Fox Chase Cancer Center in Philadelphia. From there he moved to Rowan University School of Osteopathic Medicine where he is currently a Professor in the department of Molecular Biology.

Alicia Campbell is currently a 4th-year PhD candidate in the Molecular Cell Biology and Neuroscience program at Rowan Virtua School of Translational Biomedical Engineering and Sciences. She holds an undergraduate degree from Penn State University in Biochemistry and Molecular Biology. Her research is dedicated to unraveling the molecular mechanisms and mitochondrial dysfunction associated with MED13L Syndrome, with a particular focus on mitochondrial dynamic shifts and their impact on skeletal muscle differentiation and development.

This focus has led her to specifically work on 12 skin biopsies taken in October 2022. Alicia has shared her findings on MED13L at the Keystone Symposia in Breckenridge, CO, last March, where she discussed “Mitochondrial Dysfunction: From Ultra-Rare Diseases to Aging,” and her exceptional research was recognized when she received the Dean’s Award for Excellence in Research this past fall. Originally from the suburbs of Philadelphia, she now resides in Ocean City, NJ, enduring a long commute to her workplace, which she jokingly notes as ‘sad.’ Aside from her academic pursuits, Alicia is a passionate cat enthusiast.