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.
BS (Biology)
The George Washington University, 1996.
MD (Medicine)
The George Washington University School of Medicine, 2000.
Post-Graduate Training
NIH Summer Research Program Intern, Dept. Transfusion Medicine, NIH, Bethesda, MD, 1996-1997.
Combined Resident in Pediatrics and Medical Genetics, University Hospitals of Cleveland, 2000-2005.
44th Annual Short Course in Medical & Experimental Mammalian Genetics, The Jackson Laboratory, Bar Harbor, ME, 2003-2003.
Clinical Research Scholar, CASE School of Medicine and Cleveland Clinic Foundation, 2005-2006.
Physician Leadership Course, The Children’s Hospital of Philadelphia, 2016-2017.
Permanent linkNIH Summer Research Program Intern, Dept. Transfusion Medicine, NIH, Bethesda, MD, 1996-1997.
Combined Resident in Pediatrics and Medical Genetics, University Hospitals of Cleveland, 2000-2005.
44th Annual Short Course in Medical & Experimental Mammalian Genetics, The Jackson Laboratory, Bar Harbor, ME, 2003-2003.
Clinical Research Scholar, CASE School of Medicine and Cleveland Clinic Foundation, 2005-2006.
Physician Leadership Course, The Children’s Hospital of Philadelphia, 2016-2017.
Description of Research Expertise
Mitochondrial disease; Genetic basis of Mendelian disease; C. elegans models of mitochondrial disease and therapyDescription of Clinical Expertise
Mitochondrial Disease; Ophthalmologic Genetic Disease; Clinical GeneticsSelected Publications
Rahman MM, Khadka P, Young CKJ, Wang J, McCormick EM, Falk MJ, Young MJ: High-concentration MEHP triggers mtDNA depletion in undifferentiated HepaRG and C2C12 cultures and disrupts mitochondrial homeostasis in both HepaRG culture states. Toxicol Sci 209(5), May 2026 Notes: doi: 10.1093/toxsci/kfag049.Wang R, Wang F, DeBruyne E, Falk MJ, Ganetzky R, Edmondson A, Lin L, Xing Y: Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation. Science Advances 12(16), April 2026 Notes: doi: 10.1126/sciadv.ady9895.
Mitchell DV, McCormick EM, Buchner B, Thorburn D, Christodoulou 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 In Preparation 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: Targeted modulation of IGFBP5/IGF1, THPO, and P38 MAPK signaling are potent therapeutic strategies generalizable for 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 In Revision 2026.
Contact us
Institute for Diabetes, Obesity and Metabolism
Smilow Center for Translational Research
3400 Civic Center Boulevard, 12th Floor
Philadelphia, PA 19104
Phone: 215-898-0198 | Fax 215-898-5408
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