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
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 In Press 2026.Boris JR, Shadiack EC 3rd, McCormick EM, MacMullen LE, George-Sankoh I, Falk MJ: Long-Term Postural Orthostatic Tachycardia Syndrome Outcomes Survey: Educational, Economic, and Social Impact. J Am Heart Assoc 14(21), Nov 2025 Notes: doi: 10.1161/JAHA.125.042365.
Chandel NS, Falk MJ, Santos JH, Brestoff JR, Lechuga-Vieco AV, Sancak YS, Chen Q, Elorza AA, Quintana-Cabrera R: Mitochondrial Transfer. Nat Metab 7(9): 1716-1719, Sept 2025 Notes: doi: 10.1038/s42255-025-01364-0.
Burg L, Yoon H, Peng M, Haus E, Robinson M, Kaur P, Shah B, Germano P, Reesey-Gretzmacher E, Anderson VE, Nakamaru-Ogiso E, Falk MJ: Zagociguat prevented stressor-induced neuromuscular dysfunction, improved mitochondrial physiology, and increased exercise capacity in diverse primary mitochondrial respiratory chain disease zebrafish models. Frontiers in Pharmacology July 2025 Notes: doi: 10.3389/fphar.2025.1588426.
Meldau S, McCormick EM, George-Sankoh I, Riordan GT, Khan K, MacMullen LE, Dawlat S, Blackhurst D, Falk MJ, Elson JL: Mitochondrial DNA Pathogenic Variant Prevalence in Primary Mitochondrial Disease Patients With African (L) Mitochondrial Genome Haplogroups. JIMD Rep 66(4), July 2025 Notes: doi: 10.1002/jmd2.70036.
Boris JR, Shadiack EC 3rd, McCormick EM, MacMullen LE, George-Sankoh I, Fitzgerald F, Falk M: The Long-Term Postural Orthostatic Tachycardia Syndrome Outcomes Survey-Gynecologic Findings: A Cross-Sectional Survey in Young Women. Obstet Gynecol Int 15, July 2025 Notes: doi: 10.1155/ogi/8872884.
Mitchell DV, Iadarola DM, Mathew ND, Keith K, Seiler C, Yu S, Kim MS, Woodard N, Anderson VE, Nakamaru-Ogiso E, Taylor DM, Falk MJ: ndufs2-/- complex I disease zebrafish model has reduced lifespan, growth, and neuromuscular activity, morphologic anomalies, and altered one-carbon metabolism treatable with folic acid. bioRxiv [Preprint], BMC Biology, submitted July 2025 Notes: doi: 10.1101/2025.07.16.664929.
Alves CAPF, Rossi-Espagnet MC, Perez F, Manteghinejad A, Peterson JT, Ganetzky R, Napolitano A, Grassi F, George-Sankoh I, Yildiz H, Muraresku C, Falk MJ, Martinelli D, Longo D, Vanderver A, Gandolfo C, Saneto RP, Goldstein A, Vossough A: Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients. AJNR Am J Neuroradiol May 2025 Notes: Online ahead of print.
Bedell VM, Dubey P, Lee HB, Bailey DS, Anderson JL, Jamieson-Lucy A, Xiao R, Leonard EV, Falk MJ, Pack MA, Mullins M, Farber SA, Eckenhoff RG, Ekker SC: Zebrafishology, study design guidelines for rigorous and reproducible data using zebrafish. Commun Biol 8(1): 739, May 2025 Notes: doi: 10.1038/s42003-025-07496-z.
Wang J, Peterson J, Santos JD, Chan AJS, Diaz-Miranda MA, Rahaman I, Flickinger J, Goldstein A, Bogush E, McCormick EM, Muraresku CC, Dulik M, Wallace DC, Xiao R, Falk MJ, Viaene AN, Zolkipli-Cunningham Z: Interpreting the clinical significance of Multiple Large-Scale Mitochondrial DNA Deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease. Frontiers in Pharmacology 16(1507493), April 2025.