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

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.

Broxton C, Kaur P, Lavorato M, Ganesh S, Xiao R, Mathew N, Ogiso E, Anderson VE, Falk MJ: Dichloroacetate and thiamine improve survival and mitochondrial stress in C. elegans model of dihydrolipoamide dehydrogenase deficiency. JCI Insight. JCI Insight 7(20): e156222, 2022 Notes: insight.156222.

Elander J, McCormick EM, Varendh M, Stenfeldt K, Ganetzky RG, Goldstein A, Zolkipli-Cunningham Z, MacMullen L, Xiao R, Falk MJ*, Ehinger* (co-senior authors): Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease. Mol Genet Metab 2022 Notes: In Press.

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: N-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 2022 Notes: In revision.

Ehinger JK, Karlsson M, Sjövall F, Leffler M, McCormack SE, Kubis SE, Åkesson A, Falk MJ, Kilbaugh TJ: Predictors of outcome in children with disorders of mitochondrial metabolism in the pediatric intensive care unit. Pediatr Res 90(6): 1221-1227, December 2021 Notes: doi: 10.1038/s41390-021-01410-z. Epub 2021 Feb 24.

Karaa A, MacMullen LE, Campbell JC, Christodoulou J, Cohen BH, Klopstock T, Koga Y, Lamperti C, Maanen R, McFarland R, Parikh S, Harman S, Scaglia F, Sherman AV, Yeske P, Falk MJ: Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease. Advanced Genetics December 2021 Notes:

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Last updated: 05/23/2023
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