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Marni Joy Falk, MD

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Professor of Pediatrics (Human Genetics) at the Children's Hospital of Philadelphia
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Attending Physician, Divisions of Human Genetics and Metabolism, Department of Pediatrics, The Children's Hospital of Philadelphia
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Organizer and Co-director, Ophthalmology-Genetics Clinic, The Children’s Hospital of Philadelphia
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Attending Physician, Monthly General Genetics Clinic, The Children’s Hospital of Philadelphia
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Director and Attending Physician, Twice-Monthly Mitochondrial-Genetics Diagnostic Clinic, Divisions of Human Genetics and Metabolism, The Children’s Hospital of Philadelphia
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Attending Physician, Section of Genetics, Department of Neonatology Hospital of the University of Pennsylvania
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Founding Member, Center for Mitochondrial and Epigenomic Medicine (CMEM), The Children’s Hospital of Philadelphia
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Executive Director, Mitochondrial Medicine Center and Frontier Program, The Children’s Hospital of Philadelphia
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Program Director and Research Director, Mitochondrial Medicine Clinical Fellowship, The Children’s Hospital of Philadelphia
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Department: Pediatrics
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1f Graduate Group Affiliations 8 a
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46 Contact information
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The Children's Hospital of Philadelphia
11 ARC 1002c
39 3615 Civic Center Blvd
Philadelphia, PA 19104
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32 Fax: 267-426-2876
32 Lab: 215-590-9951
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Email: falkm@email.chop.edu
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Links
6e United Mitochondrial Disease Foundation website
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13 Education:
21 7 BS 14 (Biology) c
39 The George Washington University, 1996.
 21 7 MD 15 (Medicine) c
4c The George Washington University School of Medicine, 2000.
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Description of Research Expertise

81 Mitochondrial disease; Genetic basis of Mendelian disease; C. elegans models of mitochondrial disease and therapy
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Description of Clinical Expertise

58 Mitochondrial Disease; Ophthalmologic Genetic Disease; Clinical Genetics
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Selected Publications

1f5 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.

 205 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.

 d2 Falk MJ: Small molecule hypoxia therapy in mitochondrial disease. Cell 188, March 2025 Notes: https://doi.org/10.1016/j.cell.2025.02.019.

 18d Ganetzky R, Stanley KD, MacMullen LE, George-Sankoh I, Goldstein A, Xiao R, Falk MJ: Recognizing the Evolution of Clinical Syndrome Spectrum Progression in Individuals with Single Large-Scale mitochondrial DNA deletion syndromes (SLSMDS). Genetics in Medicine 19(101386), February 2025 Notes: doi: 10.1016/j.gim.2025.101386.

 1b9 George-Sankoh I, MacMullen LE, Chinwalla AT, Taylor D, Ganetzky RD, Stanley K, McCormick EM, Zolkipli-Cunningham Z, Falk MJ: MMFP-Tableau: Enabling Precision Mitochondrial Medicine through Integration, Visualization, and Analytics of Clinical and Research Health System Electronic Data. JAMAIA Open 7(5), December 2024 Notes: https://doi.org/10.1093/jamiaopen/ooae134

1a1 Lavorato M, Iadarola D, Remes C, Kaur P, Broxton C, Mathew ND, Xiao R, Seiler C, Nakamaru-Ogiso E, Anderson VE, Falk MJ: dldhcri3 zebrafish exhibited altered mitochondrial ultrastructure, morphology and dysfunction partially rescued by probucol or thiamine. JCI Insight Online ahead of print, August 2024 Notes: doi: 10.1172/jci.insight.178973.

 138 Boris JR, Shadiack EC, McCormick EM, MacMullen L, George-Sankoh I, Falk MJ: The Long Term POTS Outcomes Study (LT-POTS): Diagnosis, Therapy, and Clinical Outcomes. J Am Heart Assoc 16(13): 14, July 2024 Notes: doi: 10.1161/JAHA.123.033485.

 162 Lanvin PL, Li D, Conrad S, Magot A, Micaelli X, Péréon Y, Vincent M, Isidor B, Sternberg D, McCormick EM, Hakonarson H, Mercier S, Falk MJ: Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene: A Clinical Report. Neurol Clin Pract 14(3), June 2024.

 1aa MacMullen LE, George-Sankoh I, Stanley K, McCormick EM, Muraresku CC, Goldstein A, Zolkipli-Cunningham Z, Falk MJ: Bridging the clinical-research gap: Harnessing an electronic data capture, integration, and visualization platform to systematically assess prospective patient-reported outcomes in mitochondrial medicine. Mol Genet Metab 142(1), May 2024.

 179 Sharma S, Magnitsky S, Reesey E, Schwartz M, Haroon S, Lavorato M, Chan S, Xiao R, Wilkins BJ, Martinez D, Seiler C, Falk MJ: Novel Development of Magnetic Resonance Imaging to Quantify the Structural Anatomic Growth of Diverse Organs in Adult and Mutant Zebrafish. Zebrafish 21(1): 28-38, February 2024.

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