top of page

Marni J. Falk, MD

Dr. Falk is Executive Director of the Mitochondrial Medicine Frontier Program at The Children's Hospital of Philadelphia (CHOP), Clinical Geneticist, and Professor in the Division of Human Genetics in the Department of Pediatrics at the University of Pennsylvania (UPenn) Perelman School of Medicine in Philadelphia, Pennsylvania.  She works to improve precision clinical care, diagnostic approaches, and genomic resources for mitochondrial disease, including organization of the global Mitochondrial Disease Sequence Data Resource (MSeqDR) consortium.  Dr. Falk is the Principal Investigator of an active translational research laboratory group at CHOP that investigates the causes and global metabolic consequences of mitochondrial disease, and targeted therapies, in C. elegans, zebrafish, mouse, and human tissue models of genetic-based respiratory chain dysfunction.  She also designs and directs multiple clinical treatment trials in mitochondrial disease patients.   Dr. Falk received her B.S. degree in Biology graduating Summa cum Laude and Phi Beta Kappa, as well as M.D. degree in the Alpha Omega Alpha Medical Honor Society from a combined 7-year program at the George Washington University School of Medicine.  She then completed dual specialty training in a 5-year Pediatrics and Clinical Genetics residency program at Case Western Reserve University.  Dr. Falk has authored more than 115 peer-reviewed publications in the areas of human genetics and mitochondrial disease, and served as Editor for the ‘Mitochondrial Disease Genes Compendium’.  Dr. Falk directs the CHOP/UPenn Mitochondria Research Affinity Group that has 275 participants.  She is a member of the Scientific and Medical Advisory Board of The United Mitochondrial Disease Foundation; founding member of the CHOP Center for Mitochondrial and Epigenomic Medicine; CHOP-site PI of the North American Mitochondrial Disease Consortium; member of the Mitochondrial Medicine Society, Society for Pediatric Research, Society for Inherited Metabolic Disease, American Society of Human Genetics, and American College of Medical Genetics and Genomics; and elected member of the University of Pennsylvania John Morgan Society, Interurban Clinical Club, and American Society of Clinical Investigators.

bottom of page