Rebecca Ganetzky, MD

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Rebecca Ganetzky, MD, is an attending physician in Mitochondrial Medicine and the Director of Mitochondrial Biochemical Diagnostic Test Development at Children’s Hospital of Philadelphia.

Areas of Expertise: Biochemical genetics
Locations: Main Hospital

Phone: 267-426-4961



“I am passionate about providing great care for patients with rare diseases,” says Rebecca Ganetzky, MD.

“Although each individual disease is rare,” she points out, “rare diseases collectively account for a large proportion of major pediatric illnesses.”

Families of children affected by such diseases often visit doctor after doctor before encountering one who has even heard of their child’s condition. “I found through my training that families affected by a rare disease benefit so much from having a physician who is knowledgeable about their condition,” Dr. Ganetzky says.

Dr. Ganetzky’s clinical focus is on mitochondrial disease, a group of genetic illnesses that began to be recognized in the late 1980s.

Mitochondria are structures, present in almost every cell in the body, that process nutrients to provide energy to the cells. When mitochondria are depleted or don’t function correctly, the organs they should power can fail.

The symptoms of mitochondrial disease vary greatly depending on what types of cells have impaired mitochondria.

“Mitochondrial disease can affect any organ system in the body and patients of all ages. As a mitochondrial medicine doctor, I get to meet a very diverse group of patients,” Dr. Ganetzky says.

In addition to treating patients, Dr. Ganetzky has an active research program investigating mitochondrial disease.

One focus of her research is mitochondrial complex V deficiency. Mitochondrial complex V is a group of proteins that carries out the last of five steps in converting nutrients into a form that cells can use. Dr. Ganetzky’s “bench-to-bedside” program — one that translates new laboratory findings into new therapies for patients — aims “to understand what the abnormal metabolic processes in this disease are and how we can improve diagnosis and ultimately treatment in these diseases.”

In a second major research program, Dr. Ganetzky says, “I work on developing new lab tests to both diagnosis mitochondrial disease and measure how well the mitochondria are working in order to improve care for our patients.”

As a physician-researcher, Dr. Ganetzky is motivated by the knowledge that her research will ultimately benefit patients, and CHOP, a leading center of research into mitochondrial disease, is a great place to practice.

“What I love about being part of CHOP is that we're able to provide every family with an individualized team of physicians and other professionals in order to come up with a plan that is tailored to their family,” Dr. Ganetzky says. “I hope that every family feels that they are seen as an equal member of their child's team and that the whole team is working together to give their child the best care.”

Education and Training

Medical School

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


Combined Residency: Pediatrics and Genetics - 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 Biochemical Genetics – American Board of Medical Genetics and Genomics
Clinical Genetics and Genomics – American Board of Medical Genetics and Genomics
Pediatrics – American Board of Pediatrics

Titles and Academic Titles

Attending Physician

Director, Mitochondrial Biochemical Diagnostic Test Development

Assistant Director, Metabolic and Advanced Diagnostics

Program Director, Medical Biochemical Genetics

Training Director, Clinical Biochemical Genetics

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

Conditions Treated

Departments and Services




Coci EG, Gapsys V, Shur N, Shin-Podskarbi Y, de Groot B, Miller K, Vockley J, Sondheimer N, Ganetzky R and  Freisinger P: Pyruvate carboxylase deficiency type A and type C: characterization of 5 novel pathogenic variants in PC and analysis of the accompanying genotype-phenotype correlation. Human Mutation Epub Ahead of Print, Mar 2019.

Ganetzky R, Stendel C, McCormick E, Zolkipli-Cunningham Z, Goldstein, A, Klopstock T, Falk MJ: MT-ATP6 Mitochondrial Disease Variants: Phenotypic and biochemical feature analysis in 218 published cases and cohort of 14 new cases. Human Mutation Epub Ahead of Print, Feb 2019.


Ahrens-Nicklas RC*, Ganetzky RD*, Rush PW, Conway RL, Ficicioglu C: Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening. Journal of Inherited Metabolic Disease epub ahead of print, 2018.

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.




Murali C & Ganetzky RD: Differential Diagnosis of Chronic FPIES from a Metabolism Perspective. Food-Protein Induced Enterocolitis Syndrome - Diagnosis and Management.  Dr. Terri Brown-Whitehorn & Dr. Antonella Cianferoni (eds.). Springer Nature, 2019.

Stojinski C & Ganetzky R: ECHS1 Deficiency - Genereviews. GeneReviews®  Adam MP, Ardinger HH, Pagon RA, et al. (eds.). University of Washington, Seattle, 2019.

Strong A & Ganetzky RD: Clinical Approach to Suspected Metabolic Disorders. Nelson Pediatrics Board Review. Dean T & Bell L (eds.). Page: 338-41, 2019.

Strong A & Ganetzky RD: Review of Selected Metabolic Disorders. Nelson Pediatrics Board Review. Dean T & Bell L (eds.). Elsevier, Page: 342-63, 2019.


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

Invited Lectures


Ganetzky R. "Next Generation Education: A Workshop on Interactive Educational Design", ACMG Annual Meeting, Charlotte, NC. Apr, 2018.


Ganetzky R. "Update on Newborn Screening and Early Diagnosis: Improved Survival and Quality of Life", Children's Hospital of Philadelphia, Annual Advances in Neonatal-Perinatal Medicine Symposium. Oct, 2017.

Ganetzky R. "Translational Research in Mitochondrial Disease", CHOP Translational Research Workshop for Basic Scientists. Oct, 2017.

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

Awards and Honors

2015, Koch Memorial Fellowship, National Phenylketonuria Alliance

2005, Phi Beta Kappa

2005, Sigma Xi

Editorial and Academic Positions

Editorial Positions

Ad Hoc Reviewer

2018-present, Journal of Child Neurology
2018-present, Journal of Human Genetics
2018-present, Journal of Neurology
2017-present, Clinical Chemistry and Laboratory Medicine
2016-present, European Journal of Medical Genetics

Academic and Institutional Committees

2019-present, Milestones Working Group, Laboratory Genetics and Genomics & Clinical Biochemical Genetics, American College of Graduate Medical Education

2018-present, Co-Chair, Electronic Health Record Committee, Mitochondrial Care Network

Leadership and Memberships

Memberships in Professional Organizations

2015-present, Mitochondrial Medicine Society
2014-present, Society for Inherited Metabolic Disease