faculty photo

Marni Joy Falk

Assistant 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
Education:
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 Clinical Expertise

Mitochondrial Disease; Ophthalmologic Genetic Disease; Clinical Genetics

Selected Publications

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. Mar 3. pii: S1567-7249(15)00026-4. doi: 10.1016/j.mito.2015.02.005.. [Epub ahead of print] PMID: 25744875. PMC Journal – In Process. Mitochondrion. Mar 3. pii: S1567-7249(15)00026-4. doi: 10.1016/j.mito.2015.02.005.. [Epub ahead of print] Mar 3 2015.

McCormick EM, Kenyon L, Falk MJ: Desmin mutation causes multi-system disease manifestations with depletion of mitochondria and mitochondrial DNA. Frontiers in Genetics. Under Review. 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.

Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Cohen BH, Falk MJ, Greene C, Gropman AL, Haas R, Hirano M, Morgan P, Sims K, Tarnopolsky M, Van Hove JLK, Wolfe LA, DiMauro S : Diagnosis and Management of Mitochondrial Disease: A Consensus Statement from the Mitochondrial Medicine Society. Genetics in Medicine. Dec 11. doi: 10.1038/gim.2014.177. [Epub ahead of print] Dec 11 2014.

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. 2014 Nov 20. pii: jmedgenet-2014-102677. doi: 10.1136/jmedgenet-2014-102677. [Epub ahead of print] Nov 20 2014.

Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, Consugar M, Lancelot ME, Antonio A, Lonjou C, Carpentier W, Mohand-Saїd S, den Hollander AI, Cremers FP, Leroy BP, Gai X, Sahel JA, van den Born LI, Collin RW, Zeitz C, Audo I, Pierce EA: Mutations in IFT172 Cause Isolated Retinal Degeneration and Bardet-Biedl Syndrome. Hum Mol Genet. 24(1): 230-243, Jan 2014.

Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Collins A, Cohen BH, Debrosse SD, Dimmock D, Falk MJ, Ganesh J, Greene C, Gropman AL, Haas R, Kahler SG, Kamholz J, Kendall F, Korson MS, Mattman A, Milone M, Niyazov D, Pearl PL, Reimschisel T, Salvarinova-Zivkovic R, Sims K, Tarnopolsky M, Tsao CY, van Hove J, Walsh L, Wolfe LA : Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and Clinical Challenges. Mitochondrion 14(1): 26-33, Jan 2014 Notes: doi: 10.1016/j.mito.2013.07.116.

Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Collins A, Cohen BH, Debrosse SD, Dimmock D, Falk MJ, Ganesh J, Greene C, Gropman AL, Haas R, Kahler SG, Kamholz J, Kendall F, Korson MS, Mattman A, Milone M, Niyazov D, Pearl PL, Reimschisel T, Salvarinova-Zivkovic R, Sims K, Tarnopolsky M, Tsao CY, van Hove J, Walsh L, Wolfe LA.: Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges. Mitochondrion 14(1): 26-33, Jan 2014 Notes: doi: 10.1016/j.mito.2013.07.116. Epub 2013 Jul 26.

Jarvik GP, Amendola LM, Berq JS, Brothers K, Clayton et al. (plus 100 Collaborators including Falk MJ): Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between. Am J Hum Genet. pii: S0002-9297(14)00181-5. doi: 10.1016/j.ajhg.2014.04.009. P 2014.

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Last updated: 03/12/2015
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