Precision Mitochondrial Medicine:
Bridging from preclinical models to targeted clinical trials for rare disease

Dr. Falk will describe her efforts to build a world-class rare disease program focused in Mitochondrial Medicine at Children’s Hospital of Philadelphia, spanning across the interconnected domains of clinical care, clinical diagnostic test development, clinical research, translational and basic laboratory research, genomics and bioinformatics resource development, training and education, administrative excellence, and a collaborative network of academic, biopharma, foundation, and family partnerships.

Marni J. Falk, M.D.

Distinguished Endowed Chair & Executive Director
Mitochondrial Medicine Frontier Program
Division of Human Genetics
The Children’s Hospital of Philadelphia

Professor of Pediatrics
Perelman School of Medicine
University of Pennsylvania

A board-certified Clinical Geneticist, Dr. Falk works to improve precision clinical care, diagnostic approaches, therapeutics, and genomic resources for mitochondrial disease, including organization of the global Mitochondrial Disease Sequence Data Resource (MSeqDR) consortium and co-leader of the ClinGen Mitochondrial Disease Gene and Variant Expert Curation Panels. Dr. Falk is PI of an active translational research laboratory group at CHOP investigating 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 160 peer-reviewed publications, edited “Mitochondrial Disease Genes Compendium: From Genes to Clinical Manifestations”, and directs the CHOP/UPENN Mitochondria Research Affinity Group that has >250 participants.

Dr. Falk is a member of the Scientific and Medical Advisory Board of The United Mitochondrial Disease Foundation (UMDF); founding member of the CHOP Center for Mitochondrial and Epigenomic Medicine (CMEM); CHOP-site PI of the North American Mitochondrial Disease Consortium (NAMDC); member of the Mitochondrial Medicine Society (MMS), Society for Pediatric Research (SPR), Society for Inherited Metabolic Disease (SIMD), American Society of Human Genetics (ASHG), and American College of Medical Genetics and Genomics (ACMGG); and elected member of the University of Pennsylvania John Morgan Society (JMS), Interurban Clinical Club (ICC), and American Society of Clinical Investigators (ASCI).