RebeccaGanetzkyMD

Medicine/Pediatrics • Philadelphia, PA

Physician

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Office
34th St. & Civic Center Blvd
The Children's Hospital Of Philadelphia, Room 9nw55
Philadelphia, PA 19104
Phone+1 215-590-2437

Fax+1 215-590-2768

Education & Training

Children's Hospital of PhiladelphiaFellowship, Clinical Biochemical Genetics, 2015 - 2016
Children's Hospital of PhiladelphiaResidency, Pediatrics/Medical Genetics and Genomics, 2010 - 2015
Case Western Reserve University School of MedicineClass of 2010
Oberlin CollegeB.A., Biology and Computer Science, Magna Cum Laude, 2001 - 2005

Certifications & Licensure

FL State Medical License 2022 - Present
PA State Medical License 2010 - 2026
NC State Medical License 2020 - 2022
OR State Medical License 2020 - 2022
American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
American Board of Pediatrics Pediatrics
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics

Awards, Honors, & Recognition

Koch Memorial Fellowship National Phenylketonuria Alliance, 2015
Phi Beta Kappa 2005
Sigma Xi 2005

Publications & Presentations

PubMed

Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.
Alina Ivaniuk, Irina A Anselm, Aaron Bowen, Bruce H Cohen, Fatma Tuba Eminoglu
Neurology. 2025-02-25
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.
Gazelle Zerafati-Jahromi, Elias Oxman, Hieu D Hoang, Wu-Lin Charng, Tanvitha Kotla
American Journal of Human Genetics. 2025-01-23
Biallelic Variants in LIPT2 as a Cause of Infantile-Onset Dystonia: Expanding the Clinical and Molecular Spectrum.
Kuntal Sen, Alonso Zea Vera, Anna Puronurmi, Andrea Gropman, Parith Wongkittichote
Pediatric Neurology. 2025-01-01

Books/Book Chapters

Comprehensive Pediatric Hospital Medicine
Chapter: "Hypoglycemia"
Ganetzky REditors: Zaoutis L.McGraw-HillEdition 2nd,2014
Pediatric Primary Care: A Resident Survival Guide
Chapter: "Care of the Complex Child"
Ganetzky R, Jaffe NEditors: Senthil K, Jensen B.Children's Hospital of PhiladelphiaEdition 1st,2014

Abstracts/Posters

"ECHS1 deficiency as a cause of severe neonatal lactic acidosis"
Ganetzky R, Ficicioglu C, Children's Hospital of Philadelphia, Society for Inherited Metabolic Disease Annual Meeting, 1/1/2015

Press Mentions

New Mitochondrial Disease Identified in Identical TwinsOctober 13th, 2022
Developmental Delays Related to Leigh Syndrome May Occur Earlier Than Previously KnownMarch 1st, 2022
Gene Behind Long-Recognized Mitochondrial Disease Has Highly Varied EffectsMarch 12th, 2019
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