Marni Joy Falk, MD

faculty photo
Professor of Pediatrics (Human Genetics) at the Children's Hospital of Philadelphia
Attending Physician, Divisions of Human Genetics and Metabolism, Department of Pediatrics, The Children's Hospital of Philadelphia
Organizer and Co-director, Ophthalmology-Genetics Clinic, The Children’s Hospital of Philadelphia
Attending Physician, Monthly General Genetics Clinic, The Children’s Hospital of Philadelphia
Director and Attending Physician, Twice-Monthly Mitochondrial-Genetics Diagnostic Clinic, Divisions of Human Genetics and Metabolism, The Children’s Hospital of Philadelphia
Attending Physician, Section of Genetics, Department of Neonatology Hospital of the University of Pennsylvania
Founding Member, Center for Mitochondrial and Epigenomic Medicine (CMEM), The Children’s Hospital of Philadelphia
Executive Director, Mitochondrial Medicine Center and Frontier Program, The Children’s Hospital of Philadelphia
Program Director and Research Director, Mitochondrial Medicine Clinical Fellowship, 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
Office: 267-426-4961
Fax: 267-426-2876
Lab: 215-590-9951
BS (Biology)
The George Washington University, 1996.
MD (Medicine)
The George Washington University School of Medicine, 2000.
Permanent link
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Description of Research Expertise

Mitochondrial disease; Genetic basis of Mendelian disease; C. elegans models of mitochondrial disease and therapy

Description of Clinical Expertise

Mitochondrial Disease; Ophthalmologic Genetic Disease; Clinical Genetics

Selected Publications

DiVito D, Wellik A, Burfield J, Peterson J, Flickinger J, Tindall A, Albanowski K, Vishnubhatt S, MacMullen L, Martin I, Muraresku C, McCormick E, George-Sankoh I, McCormack S, Goldstein A, Ganetzky R, Yudkoff M, Xiao R, Falk MJ, R Mascarenhas M, Zolkipli-Cunningham Z: Optimized Nutrition in Mitochondrial Disease Correlates to Improved Muscle Fatigue, Strength, and Quality of Lif. Neurotherapeutics September 2023.

Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, Falk MJ, Goldstein A, Gorman G, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly R, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Hove JV, Vissing J, Vockley G, Finman JS, Brown DA, Shiffer JA, Mancuso M: Multicenter, Phase 3, Randomized, Double-Blind, Placebo-Controlled Trial of Elamipretide in Primary Mitochondrial Myopathy: MMPOWER-3. Neurology 101(3): 238-252, July 2023.

Haroon S, Yoon H, Seiler C, Osei-Frimpong B, He J, Nair RM, Mathew N, Burg L, Venkata C, Anderson VE, Nakamaru-Ogiso E, Falk MJ: Acetylcysteine and cysteamine bitartrate prevent azide-induced neuromuscular decompensation by restoring glutathione balance in two novel surf1-/- zebrafish deletion models of Leigh syndrome. Hum Mol Genet 32(12): 1988-2004, June 2023.

Alves C.A.P.F., Zandifar A, Peterson JT, Tara SZ, Ganetzky R, Viaene AN, Andronikou S, Falk MJ, Vossough A, Goldstein AC: MELAS: Phenotype Classification into Classic versus Atypical Presentations. AJNR Am J Neuroradiol 44(5): 602-610, May 2023.

McCormick EM, Keller K, Taylor JP, Coffey AJ, Shen L, Krotoski D, Harding B; NICHD ClinGen U24 Mitochondrial Disease Gene Curation Expert Panel; Gai X, Falk MJ, Zolkipli-Cunningham Z, Rahman : Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum. Ann Neurol May 2023.

Lavorato M, Nakamaru-Ogiso E, Mathew N, Herman E, Shah N, Haroon S, Xiao R, Seiler C, Falk MJ: Dichloroacetate improves mitochondrial function, physiology, and morphology in FBXL4 disease models. JCI Insight 7(16), August 2022.

Valverde K, McCormick EM, Falk MJ: A qualitative exploration of the lived experience of adults diagnosed with primary mitochondrial disease. JIMD Reports Page: 1-14, July 2022 Notes:

Tinker RJ, Falk MJ, Goldstein A, George-Sankoh I, Xiao R, Adang L, Ganetzky R: Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis. Mol Genet Metab 22(S1096-7192): 00138-X, February 2022 Notes: doi: 10.1016/j.ymgme.2022.02.006. Online ahead of print.

Qi C, Feng I, Costa AR, Pinto-Costa R, Neil JE, Caluseriu O, Li D, Ganetzky RD, Brasch-Anderson C, Fagerberg C, Hansen LK, Bupp C, Muraresku CC, Ruan X, Kang B, Hu K, Zhong R, Brites P, Bhoj EJ, Hill RS, Falk MJ, Hakonarson H, Kahle KT, Sousa MM, Walsh CA, Zhang X: Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans. Genet Med 24(2): 319-331, February 2022 Notes: doi: 10.1016/j.gim.2021.09.014.

Wang J, Balciuniene J, Diaz-Miranda MA, McCormick EM, Eshghi EA, Muir AM, Cao K, Troiani J, Moseley A, Fan Z, Zolkipli-Cunningham Z, Goldstein A, Ganetzky R, Muraresku CC, Peterson JT, Spinner N, Wallace DC, Dulik MC, Falk MJ: Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease. Mol Genet Metab 135(1): 93-101, January 2022 Notes: doi: 10.1016/j.ymgme.2021.12.006.

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Last updated: 10/03/2023
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