faculty photo

Marni Joy Falk, MD

Professor of Pediatrics (Human Genetics) at the Children's Hospital of Philadelphia
Department: Pediatrics

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
Graduate Group Affiliations
Education:
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.
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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: https://doi.org/10.1002/jmd2.12316.

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
The Trustees of the University of Pennsylvania