Rebecca Ganetzky, MD, DABMG

Rebecca Ganetzky, MD, DABMG
Rebecca Ganetzky, MD, DABMG, is an attending physician in Mitochondrial Medicine at Children’s Hospital of Philadelphia.

Areas of Expertise: Biochemical genetics
Locations: Main Campus


Education and Training

Medical School

MD – Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH


Combined Residency in Clinical Genetics and Pediatrics - Children's Hospital of Philadelphia, Philadelphia, PA (chief resident)


Clinical Biochemical Genetics - Children's Hospital of Philadelphia, Philadelphia, PA

Genetics Research Fellow - Children's Hospital of Philadelphia, Philadelphia, PA

Board Certification

Clinical Genetics

Titles and Academic Titles

Attending Physician

Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania

Conditions Treated

Departments and Services




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. 2019 Feb 14. doi: 10.1002/humu.23723. [Epub ahead of print]


Ganetzky RD, Falk MJ. 8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease. Mol Genet Metab. 2018 Mar;123(3):301-308. doi: 10.1016/j.ymgme.2018.01.010. Epub 2018 Feb 2.

Barca E, Ganetzky RD, Potluri P, Juanola-Falgarona M, Gai X, Li D, Jalas C, Hirsch Y, 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. Hum Mol Genet. 2018 Jun 18. doi: 10.1093/hmg/ddy231. [Epub ahead of print]


Ganetzky, R. D.,Bloom, K.,Ahrens-Nicklas, R.,Edmondson, A.,Deardorff, M. A.,Bennett, M. J.,Ficicioglu, C. "ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis." JIMD Reports. 2016 Feb 28

Ng BG,  Shiryaev SA, Rymen D,  Elkund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Alina M, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Demmer LA, Diogo L, Fay AJ, Ficicipglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yapilito-Lee J, Nickerson DA, Peters HL, Race V, Regal L, Rush JS, Rutledge SL, Shendure J, University of Washington Center for Mendelian Genomics, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vollo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC, Matthijs G, Freeze HH.  : ALG1-CDG: Clinical and molecular characterization of 39 unreported patients.   Human Mutation 37(7): 653-660, 2016.

Bates C, Gordon L, Travis E, Chatterjee A, Chaudron L, Fivush B, Gulati M, Jagsi R, Sharma P, Gillis M, Ganetzky R, Grover A, Lautenberger D, Moses A.:  Striving for Gender Equality in Academic Medicine: A Call to Action.  Acad Med. 2016; 91(8):1050-2 Acad Med.  91(8): 1050-1052, 2016.


Zarate YA, Bosanko KA, Bhoj E, Ganetzky R, Starr LJ, Zackai EH, Schaefer GB: Phenotypic Modifications of Patients with Full Chromosome Aneuploidies and Concurrent Suspected or Confirmed Second Diagnoses. Am J Med Genet A.  2015; 167A(9), 2168-75 Am J Med Genet A.   167A(9): 2168-2175, 2015.

Kruszka P, Uwineza A, Martinez AF, Abe Y, Zackai EH, Ganetzky R, Chung B, Stevenson R, Adelstein RS, Ma X, Mullikan JC, Hong SK, Muenke M. : Mutations in IQ Motif Containing K (IQCK) is a cause of Limb Body Wall Complex.  Mol Genet Genomic Med 3(5): 424-432, 2015.

Ganetzky RD, Finn E, Bagchi A, Zollo O, Conlin L, Deardorff MA, Harr MH, Simpson MA, McGrath J, Zackai EH, Lemmon M, Sondheimer N. : EGFR Mutations Cause a Lethal Syndrome of Epithelial Dysfunction with Progeroid Features. Mol Genet Genomic Med 3(5): 452-458, 2015.

Kruszka, P., Unwineza, A., Mutesa, L., Martinez, A.F., Yu, A., Zackai, E.H., Ganetzky, R., Chung, B., Stevenson, R.E., Adelstein, R.S., Ma, X., Mullikin, J.C., Sung-Kook, H, Muenke, M.: Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing k (IQCK)? Mol Genet Genomic Med 3(f): 424-432, Sep 2015.


Wenger T, Harr M, Ricciardi S, Bhoj E, Santani A, Adam M, Ganetzky R, McDonald-McGinn D, Bigoni S, Selicorni A, Sorge G, Mari F, Andreucci E, Cocchi G, Savasta S, Malbora B, Dubbs H, Marangi G, Garavelli L, Zollino M, Zackai E.: CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.  Am J Med Genet A  164A: 2557-2566. 2014.


Feng X, Scheinberg P, Wu CO, Samsel L, Nunez O, Prince C, Ganetzky RD, McCoy JP Jr, Maciejewski JP, Young NS.: Cytokine signature profiles in acquired aplastic anemia and myelodysplastic syndromes.  Haematologica 96(4): 602-606, 2011.


Sekeres MA, List AF, Cuthbertson D, Paquette R, Ganetzky R, Latham D, Paulic K, Afable M, Saba HI, Loughran TP Jr, Maciejewski JP: A Phase I Combination Trial of Lenalidomide and Azacitidine in Patients with Higher-risk Myelodysplastic Syndromes.  J Clin Oncol 28(13): 2253-2258, 2010.

Ko M, Huang Y, Jankowska AM, Pape UJ, Tahiliani M, Bandukwala HS, An J, Lamperti ED, Koh KP, Ganetzky RD, Liu XS, Aravind L, Argawal S, Maciejewski JP, Rao A. Impaired hydroxylation of 5-methylcytosine in myeloid cancers with mutant TET2. Nature 468: 839-843, Dec 9 2010.


Jankowska AM, Szpurka H, Tiu RV, Makishima H, Afable M, Huh J, O'Keefe CL, Ganetzky R, McDevitt MA, Maciejewski JM. : Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms.   Blood 113(25): 6403-6410, 2009.


Garner CN, Ganetzky R, Brainard J, Hammel JP, Berber E, Siperstein AE, Milas M.: Increased prevalence of breast cancer among patients with thyroid and parathyroid disease.  Surgery 142(6): 806-813, 2007.




Ganetzky R, Reynoso J, He M. : "Congenital Disorders of Glycosylation".   Biomarkers in Inborn Errors of Metabolism: Clinical Aspects and Laboratory Determination, 1st edition. Elsevier Garg U, Smith LD  (eds.). Pages: 343-360. 2017.


Ganetzky R, Ficicioglu C. : "Metabolism".   The Philadelphia Guide: Inpatient Pediatrics, 2nd edition, McGraw-Hill Shah SS, Catallozzi M, Zaoutis L, Frank G (eds.). January 2016.


Ganetzky R, Ficicioglu C. : "Metabolism".   The Philadelphia Guide: Inpatient Pediatrics, 2nd edition, McGraw-Hill Shah SS, Catallozzi M, Zaoutis L, Frank G (eds.). January 2016.

Ganetzky R, Jaffe N: "Care of the Complex Child". Pediatric Primary Care: A Resident Survival Guide, 1st edition, Children's Hospital of Philadelphia,  Senthil K, Jensen B  (eds.). 2014.

Posters and Presentations


Rebecca Ganetzky, Elizabeth McCormick, Michael Bennett, Mark Tarnopolsky, Douglace C. Wallace, Eiko Nakamaru-Ogiso, Richard Rodenberg, Marni J. Falk: Known and Novel ATP6 Mutations: Delineation of the phenotypic spectrum and functional effects United Mitochondrial Disease Foundation, Mitochondrial Medicine annual conference, 2015, oral presentation 2015.

Ganetzky R, Ficicioglu C: ECHS1 deficiency as a cause of severe neonatal lactic acidosis.  Society for Inherited Metabolic Disease Annual Meeting, Salt Lake City, UT  (Poster)  March 2015.

Invited Lectures


Ganetzky R. "Complex V Disease: Mutations, Functions, and Models", CHOP/Penn Mitochondrial Research Affinity Group 2nd Annual Retreat, Morris Arboretum, Apr, 2017.


Ganetzky R. "Screening and Evaluation of Mitochondrial Disorders", Mitochondrial Medicine 2016: UMDF Northeast  Regional Symposium, Philadelphia, PA, Oct, 2016.

Ganetzky R. "Mitochondrial Disease", Lancaster General Hospital, Lancaster, PA, Feb, 2016.


Ganetzky R. "Known and novel ATP6 mutations: delineation of the phenotypic spectrum and function effects", United Mitochondrial Disease Foundation Scientific Symposium, Herndon, VA, Jun, 2015.

Awards and Honors

2015, Koch Memorial Fellowship, National Phenylketonuria Alliance

2005, Phi Beta Kappa

2005, Sigma Xi

Editorial and Academic Positions

Editorial Positions

2017-present, Ad hoc reviewer, Clinical Chemistry and Laboratory Medicine

2016-present, Ad hoc reviewer, European Journal of Medical Genetics

Leadership and Memberships

Memberships in Professional Organizations

2015-present, Mitochondrial Medicine Society

2014-present, Society for Inherited Metabolic Disease

2014-present, American Association of Medical Colleges

 - 2017-present, Group on Women in Medicine and Science subcommittee on Early Career Transitions

 - 2014-2016, Organization of Resident Representatives

 - 2014-2016, Group on Women in Medicine and Science Steering Committee, Resident Liaison