Marni Joy Falk, MD
Professor of Pediatrics (Human Genetics) at the Children's Hospital of Philadelphia
Department: Pediatrics
Graduate Group Affiliations
Contact information
The Children's Hospital of Philadelphia
ARC 1002c
3615 Civic Center Blvd
Philadelphia, PA 19104
ARC 1002c
3615 Civic Center Blvd
Philadelphia, PA 19104
Office: 267-426-4961
Fax: 267-426-2876
Lab: 215-590-9951
Fax: 267-426-2876
Lab: 215-590-9951
Email:
falkm@email.chop.edu
falkm@email.chop.edu
Education:
BS (Biology)
The George Washington University, 1996.
MD (Medicine)
The George Washington University School of Medicine, 2000.
Permanent linkBS (Biology)
The George Washington University, 1996.
MD (Medicine)
The George Washington University School of Medicine, 2000.
Description of Research Expertise
Mitochondrial disease; Genetic basis of Mendelian disease; C. elegans models of mitochondrial disease and therapySelected Publications
Mitchell DV, McCormick EM, Buchner B, Thorburn D, Chirstodoulou J, Sue C, McFarland R, Ng Y, Bertini E, Diodato D, Mancuso M, Lamperti C, Hirano M, Shen L, Gai X, Klopstock T, Prokisch H, Taylor D, Falk MJ, Rahman S, Zolkipli-Cunningham Z: Towards Standardization: Identifying Common Human Phenotype Ontology Terms for Primary Mitochondrial Disease. TBD Submitted 2026.MacMullen LE, Stanley KD, Christodoulou J, Cohen BH, Demczko M, Goldstein AC, Haas RC, Koenig MK, Poblete M, Rice A, Rossman I, Ruiz C, Russo N, Thorburn D, Uebergang E, Yang JH, Zolkipli-Cunningham Z, Falk MJ, The Leigh Syndrome Roadmap Project Natural History Study Consortium: An International Multi-Site Prospective Natural History Study Evaluating the Clinical Presentation and Progression of Leigh Syndrome Spectrum Disorders. Therapeutic Advances in Rare Disease Under Review 2026.
McGinn D, McCormick E, Shen L, Wilson N, Gai X, Yeske P, Falk MJ: Patient advocacy group led, no-cost to patient, genetic testing program for primary mitochondrial disease: Genomic data reanalysis, utility, and diagnostic rate assessment. Therapeutic Advances in Rare Disease Under Review 2026.
Burg L, Magnitsky S, Young A, Tuluc F, Falk MJ: Developing live PET/CT scans in zebrafish. TBD In Preparation 2026.
Liu Z, Wang F, Wang R, Wu DW, DeBruyne N, Keith K, McCormick EM, Park JJ, Sullenberger MT, Edmondson AC, Falk MJ, Lin L, Xing Y: NanoTS: A deep learning tool for accurate SNP calling in nanopore long-read transcriptome data. Nature Methods Under Review 2026.
Woodard NA, O’Hara T, Peng M, Dalwadi S, Kelsey K, Reesey-Gretzmacher E, Seiler C, Nakamaru-Ogiso E, Resnick AC, Falk MJ: Growth and metastasis of osteosarcoma cells in zebrafish models of primary mitochondrial disease. TBD In Preparation 2026.
Keith K, Peng M, Remes C, Miranda V, Wachowski N, Kose M, Dhraskar S, Iadarola D, Anderson V, Dugar S, Janjic N, Falk MJ: IGF1 receptor modulation is a broad therapeutic strategy across primary mitochondrial respiratory chain disease and osteosarcoma. TBD In Preparation 2026.
Peng M, Keith K, Dalwadi S, Anderson VE, Resnick A, Falk MJ: In vitro modeling of nutritional and mitochondria-targeted therapies for osteosarcoma. Cancer Research In Preparation 2026.
Stacpoole PW, Abdenur JE, Bedoyan JK, Botto L, Enns GM, Falk MJ, Ganetzky R, Garganta C, Glinton K, Gropman A, Hamm S, Henry E, Longo N, Neiberger R, Saneto RP, Scaglia F, Subramony SH, Vockley J, Wagner RE: Phase 3 Trial of Sodium Dichloroacetate for Pyruvate Dehydrogenase Complex Deficiency (PDCD) in Children. JCI Insight In Revision 2026.
Remes C, Mathew ND, Anderson VE, Nakamaru-Ogiso E, Xiao R, Falk MJ: Dichloroacetate improves survival, growth, neuromuscular activity, mitochondrial stress, and increased lactate levels in C. elegans pdha-1 and dld-1 models of pyruvate dehydrogenase complex deficiency (PDCD). JIMD Under Review 2026.