Marni Joy Falk

faculty photo
Associate Professor of Pediatrics 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, CHOP Opthalmology-Genetics Clinic
Attending Physician, Monthly General Genetics Clinic, CHOP
Director and Attending Physician, Twice-Monthly Mitochondrial-Genetics Diagnostic Clinic, Divisions of Human Genetics and Metabolism, CHOP
Attending Physician, Section of Genetics, Department of Neonatology Hospital of the University of Pennsylvania, Philadelphia, PA
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

Description of Research Expertise

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

Description of Itmat Expertise

Mitochondrial disease

Selected Publications

Zollino M, Marangi G, Ponzi E, Orteschi D, Ricciardi S, Lattante S, Murdolo M, Battaglia D, Contaldo I, Mercuri E, Stefanini MC, Caumes R, Edery P, Rossi M, Piccione M, Corsello G, Della Monica M, Scarano F, Priolo M, Gentile M, Zampino G, Vijzelaar R, Abdulrahman O, Rauch A, Oneda B, Deardorff MA, Saitta SC, Falk MJ, Dubbs H, Zackai E : Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. J Med Genet Sep 30 2015 Notes: pii: jmedgenet-2015-103184. doi: 10.1136/jmedgenet-2015-103184. [Epub ahead of print]. PMID: 26424144. PMC Journal – In Process.

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 ( Platform. Hum Mutat Page: doi: 10.1002/humu.22836. [Epub ahead of print] Jul 14 2015.

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. Page: doi: 10.1038/mt.2015.126. [Epub ahead of print, Jul 14 2015.

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. Mitochondrion Mar 3 2015 Notes: pii: S1567-7249(15)00026-4. 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. [Epub ahead of print] Dec 12 2014.

Mitalipov S, Amato P, Parry S, Falk MJ : Limitations of preimplantation genetic diagnosis for mitochondrial DNA diseases: Comment on “Data from artificial models of mitochondrial DNA disorders are not always applicable to humans”. Cell Report. 7 (4): 935–937, May 22 2014.

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Last updated: 10/14/2015
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