Rebecca D Ganetzky, M.D.

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Assistant Professor of Pediatrics (Human Genetics) at the Children's Hospital of Philadelphia
Attending Physician, Section of Metabolism & Mitochondrial Medicine Center, Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania
Program Director, Medical Biochemical Genetics, Children's Hospital of Philadelphia, University of Pennsylvania
Program Director, Clinical Biochemical Genetics Fellowships, Children's Hospital of Philadelphia, University of Pennsylvania
Assistant Director of the Michael J. Palmieri Laboratory for Metabolic and Advanced Diagnostics, Children's Hospital of Philadelphia
Associate Director, Undiagnosed Diseases Program, Children's Hospital of Philadelphia
Department: Pediatrics

Contact information
Children's Hospital of Philadelphia
Division of Human Genetics
Colket Research Building, Room 9026
3615 Civic Center Blvd.
Philadelphia, PA 19104
Office: 267-426-4961
Fax: 215-590-0583
B.A. (Biology and Computer Science, Magna Cum Laude)
Oberlin College, 2005.
M.D. (Special Qualifications in Biomedical Research)
Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, 2010.
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Selected Publications

Peretz RH, Ah Mew N, Vernon H & Ganetzky RD: Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening. Molecular Genetics & Metabolism 134(1-2): 37-42, Sep-Oct 2021.

Murali CN, Soler-Alfonso C, Loomes KM, Shah AA, Monteil D, Padilla CD, Scaglia F, Ganetzky R.: TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation. Mol Genet Metab 132(2): 146-53, Feb 2021.

Barcelos I*, Shadiack E*, Ganetzky RD†, Falk MJ†: Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines Curr Opin Pediatr 32(6): 707-18, Dec 2020.

Rebecca D. Ganetzky & Stephen R. Master: Machine Learning for the Biochemical Genetics Laboratory. Clin Chem 66(9): 1134-5, Sep 2020.

Ganetzky R, McCormick EM, Falk MJ: Primary Pyruvate Dehydrogenase Complex Deficiency Overview. GeneReviews. Adam MP, Ardinger HH, Pagon RA. (eds.). 2020 Notes: Chapter.

Ganetzky R, Stojinski C: Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency. GeneReviews. Adam MP, Ardinger HH, Pagon RA (eds.). 2019 Notes: Chapter.

Ganetzky RD, Stendel C, McCormick EM, Zolkipli-Cunningham Z, Goldstein AC, Klopstock T, Falk MJ.: MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases. Hum Mutat 40(5): 499-515, May 2019.

Barca E‡, Ganetzky RD‡, Potlouri P, Falgarona MJ, Gai X, Li D, Jalas C, Hirsch C, Emmanuele V, Tadesse S, Ziosi M, Akman HO, Chung WK, Tanji K, McCormick E, Place E, Consugar M, Pierce EA, Hakonarson H, Wallace DC, Hirano M*, Falk MJ: USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. Human Molecular Genetics 27(19): 3305-3312, Oct 2018.

Ganetzky RD & Falk MJ: 8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease. Molecular Genetics and Metabolism 123(3): 301-8, March 2018.

Stendel C*, Neuhofer C*, Floride E*, Yuqing S*, Ganetzky RD, Park J, Freisinger P, Kornblum C, Kleinle S, Schöls L, Distelmaier F, Stettner GM, Büchner B, Falk MJ, Mayr JA, Synofzik M, Abicht A, Haack TB, Prokisch H, Wortmann SB, Murayama K, Fang F, Klopstock T, ATP6 Study Group: Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration. Neurol Genet 6(1): e393, Feb 2020.

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Last updated: 05/12/2024
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