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Marni Joy Falk, MD

Marni Joy Falk, MD

faculty photo
Associate Professor of Pediatrics 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: 215-590-4564
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
Perelman School of Medicine > Faculty > Search

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

Peng M, Ostrovsky J, Kwon YJ, Polyak E, Licata J, Tsukikawa M, Marty E, Thomas J, Felix CA, Xiao R, Zhang Z, Gasser DL, Argon Y, Falk MJ: Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease. Human Molecular Genetics. 24(17): 4829-4847, Sept 19 2015.

Gonzalez M, Falk MJ, Gai X, Postrel R, Schüle R, Zuchner S.: Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform. Hum Mutat 36(10): 590-596, Oct 2015 Notes: doi: 10.1002/humu.22836. [Epub ahead of print]

Hashimoto M, Bacman SR, Peralta S, Falk MJ, Chomyn A, Chan DC, Williams S, Moraes CT : MitoTALENs: A general approach to reduce mutant mtDNA loads and restore oxidative phosphorylation function in mitochondrial diseases. Molecular Therapy. 23(10): 1592-1599, Oct 2015 Notes: doi: 10.1038/mt.2015.126. [Epub ahead of print.

McCormick EM, Kenyon L, Falk MJ: Desmin mutation causes multi-system disease manifestations with depletion of mitochondria and mitochondrial DNA. Frontiers in Genetics 6(5): 199, Jun 2015.

Falk MJ, Shen L, Gonzalez M, Leipzig J, Lott MT, Stassen APM, Diroma MA, Yeske P, Bai R, Boles R, Brilhante V, Ralph D, DaRe JT, Shelton R, Terry S, Copeland WC, Oven Mv, Prokisch H, Wallace DC, Attimonelli M, Krotoski D, Zuchner S, Gai X : Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. Molecular Genetics and Metabolism. 143(3): 388-396, Mar 11 2015.

McCormack S, Polyak E, Ostrovsky J, Dingley SD, Rao M, Kwon YJ, Zhang Z, Nakamaru-Ogiso E, Falk MJ: Pharmacologic targeting of sirtuin and PPAR signaling improves longevity and mitochondrial physiology in respiratory chain complex I mutant Caenorhabditis elegans. Mitochondrion 22: 45-50, May 2015 Notes: doi: 10.1016/j.mito.2015.02.005.. [Epub ahead of print]

Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH : Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. J Med Genet 52(2): 104-110, Feb 2015.

Navarro-Gomez D, Leipzig J, Shen L, Lott M, Stassen APM, Wallace DC, Wiggs JL, Falk MJ, van Oven M, Gai X : Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier. Bioinformatics 31(8): 1310-1312, Apr 2015 Notes: doi: 10.1093/bioinformatics/btu825. Epub 2014 Dec 12.

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Last updated: 07/26/2016
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