Marni J. Falk, MD, Named Executive Director of the Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine at the Medical College of Wisconsin

MCW is pleased to announce the appointment of Marni Joy Falk, MD, as the Executive Director of the Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine at The Medical College of Wisconsin (MCW), effective October 1, 2026. Dr. Falk currently serves as Distinguished Endowed Chair, Professor, and Executive Director of the Mitochondrial Medicine Frontier Program in the Department of Pediatrics at Children’s Hospital of Philadelphia (CHOP) and University of Pennsylvania (Penn) Perelman School of Medicine.

Dr. Falk was selected for this role after a comprehensive national search. We would like to extend our gratitude to Curt Sigmund, PhD, and Bronwen Shaw, MD, PhD, Co-Chairs of the search committee – as well as to the full committee membership – for their dedication of time, insights and thoughtfulness in undertaking this key recruitment effort for MCW, Froedtert ThedaCare and Children’s Wisconsin.

We also would like to express our sincere thanks and appreciation to Dr. Sigmund for his invaluable leadership as Interim Director of the Mellowes Center.

As part of this role, Dr. Falk will guide MCW’s integrated health system commitment to deliver the promise of patient-tailored precision medicine across the lifespan by empowering medical teams with actionable knowledge of each patient’s own genomic make-up to apply at point of care. Striving toward a goal of universal access to genomic sequencing that is integrated with dynamic analytic platforms and real-world knowledge of patient-prioritized health outcomes will accelerate health optimization, accurate risk prevention and disease diagnosis, complex condition management, and innovative therapeutic strategy development.

Dr. Falk received her early training as part of the seven-year combined BA/MD program at The George Washington University in Washington, DC, where she received her Bachelor of Science degree in Biology with a minor in Sociology in 1996 and her MD degree from The George Washington University School of Medicine in 2000. She completed a five-year combined residency in Pediatrics and Medical Genetics at Rainbow Babies and Children’s Hospital/University Hospitals of Cleveland and Case Western Reserve University (CWRU) in Cleveland, Ohio, from 2000-2005.

After serving as an instructor in the CWRU Department of Genetics, a K12 mentored career development award trainee at the Cleveland Clinic Foundation, and an attending physician in the Center for Human Genetics at University Hospitals of Cleveland from 2005-2006, Dr. Falk began her faculty appointment as Assistant Professor of Pediatrics in the Division of Human Genetics at CHOP and Penn in Philadelphia. Dr. Falk was promoted to Associate Professor of Pediatrics at Penn in July 2016 and to Professor of Pediatrics at Penn in July 2020. In July 2021, Dr. Falk was awarded a Distinguished Endowed Chair in the Department of Pediatrics at CHOP.

During her 20 years on the faculty at CHOP/Penn, Dr. Falk built and led a world-class, highly productive and continually expanding clinical, clinical research, translational and basic research “bench to bedside and back” program that merges Mitochondrial Medicine, Clinical Genetics and Genomics, and Precision Therapeutics. After founding both the CHOP Mitochondrial-Genetics Disease Diagnostic Program as well as the CHOP Ophthalmology-Genetics Diagnostic Clinic within the Division of Human Genetics and Metabolic Disease, she expanded this work into the CHOP Mitochondrial Medicine Frontier Program (MMFP). Today, the MMFP is recognized as the nation’s premier precision medicine facility for the diagnosis and management of inherited energy disorders caused by impaired mitochondrial function in adults and children.

Dr. Falk assembled a multidisciplinary research team of professionals and trainees from CHOP and Penn’s clinical and research enterprises who were united by a commitment to improving outcomes for patients with rare diseases. Their work, published in high-impact, peer-reviewed journals, has included the discovery and functional validation of novel gene causes and disease gene’s phenotype expansion of human mitochondrial disease as well as a broad range of other genetic disorders. Through this work, Dr. Falk has developed extensive expertise in the clinical genetic diagnosis, care, clinical research and translational research of individuals of all ages with a broad range of complex rare diseases, including inherited metabolic disorders, neurodevelopmental disabilities, ophthalmologic disorders, and, more recently, rare pediatric cancers. Dr. Falk has garnered local, national and international recognition for her diverse repertoire of genetic disease and mechanistic discoveries, with an increasing focus on advancing the rigorous discovery of translational therapeutics for rare inherited disease.

Highly networked and collaborative, Dr. Falk has led several international community efforts to improve genomics understanding and resources. From 2017-2025, Dr. Falk served as multi-principal investigator with Dr. Xiaowu Gai of MCW on an international, NIH-funded U24 grant initiative to establish and co-chair the ClinGen Mitochondrial Disease Expert Panel. The Panel, which represented a global effort uniting more than 50 geneticists, genetic counselors, neurologists, researchers, and commercial and academic laboratory directors from 12 countries on six continents, curated the genes and variants that cause mitochondrial disease. Since 2012, Drs. Falk and Gai created and co-lead the Mitochondrial Disease Sequence Data Resource (MSeqDR), a virtual community knowledge resource to support the global genomics community in sharing and analyzing complete genotype and phenotype data and analytic resources for mitochondrial disease.

Dr. Falk’s academic research career has been highly productive. She is an inventor or co-inventor on 13 patent filings (two awarded to date by US-PTO) through CHOP based on her work in mitochondrial disease diagnostics, therapeutic platforms, therapeutic leads and combinations, and clinical research. She has authored more than 200 peer-reviewed publications including original research in a wide range of high impact factor journals as well as review articles, perspective articles and chapters – largely focused on human genetics and mitochondrial disease. To that end, Dr. Falk has emerged as a widely recognized, forceful proponent for translational pre-clinical and rigorous clinical research studies in primary mitochondrial disease. Through her research laboratory, which has been continually funded by the NIH since 2005, Dr. Falk has advanced a novel paradigm by which to understand mitochondrial disease pathophysiology as stemming from proteotoxic stress, which has opened a suite of new therapeutic modalities that have been increasingly advanced from preclinical models spanning C. elegans, zebrafish, mice, and human cell models to precision therapeutic patient trials.

Dr. Falk served on the 2016 National Academy of Medicine Committee to evaluate the Ethical, Social, and Policy Considerations of Mitochondrial Replacement Techniques. She is regularly requested to serve on medical community and regulatory advisory panels as well as international grant review committees, recently including both for the Wellcome Trust (2024) and the Mitochondrial Research Council (MRC Centres of Research Excellence, 2026) in the United Kingdom when these prestigious funding organizations launched novel major funding initiatives. Dr. Falk has a Google Scholars h-index of 67 and i10 index of 170, with more than 14,300 citations. In 2024, she was recognized as one of the top published Penn faculty.

During her career journey, Dr. Falk has gained substantial experience and insights as a leader – envisioning, building and successfully leading a complex administrative program with a wide range of interested partners, internal and external stakeholders and levels of trainees that required astute fiscal and administrative management of a large and diverse grant portfolio from a wide variety of sponsors and project foci.

Dr. Falk particularly values building strong relationships and collaborative multidisciplinary teams to set shared vision and achieve impactful goals, mentor the next generation in the pursuit of advancing translational and clinical research, apply innovative informatics and high-throughput methodologies to solve and validate complex genetic disorders, and discover precision therapeutics that meaningfully improve health outcomes.

Dr. Falk is deeply committed to advancing scientific knowledge to benefit patients’ well-being. In 2024, Dr. Falk co-founded Rarefy Therapeutics LLC to advance a path toward affordable reformulated therapeutics optimized for rare disease patients. Recently, Dr. Falk founded a 501c3 non-profit research institute, Therapeutic Lighthouse Research Institute (TLRI), whose mission is to be the ecosystem nexus working with advocacy foundation, academic, biopharma, and investment partners to guide targeted therapeutic development for uncured diseases.