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Rebecca Koch

Assistant Professor of Pediatrics
Pediatrics, Medical Genetics
DUMC Box 103857, 905 LaSalle St. GSRB1, Durham, NC 27710

Overview


Rebecca Koch, PhD, RDN is a translational researcher and registered dietitian. Prior to joining Duke as an Assistant Professor of Pediatrics in the Division of Medical Genetics, she received a BS in Dietetics from the University of Florida, PhD in Nutritional Sciences from the University of Georgia, and completed a postdoc with Dr. Priya Kishnani in Medical Genetics at Duke University. She is an affiliated faculty member of the YT and Alice Chen Pediatric Genetics and Genomics Research Center. Her current research includes defining the natural history, pathophysiology, and factors related to treatments for genetic disorders of carbohydrate metabolism, with a focus on glycogen storage disease (GSD) and other allied lysosomal and polyglucosan storage disorders. She runs a research lab and characterizes mouse models of these diseases to explore the associated metabolic disturbances and disease sequelae with the goal of developing and testing novel therapies as well as identifying surrogate biomarkers of disease. In addition, she manages several ongoing GSD natural history studies with participants from all over the world.

Current Appointments & Affiliations


Assistant Professor of Pediatrics · 2024 - Present Pediatrics, Medical Genetics, Pediatrics

In the News


Published May 19, 2026
APBD Research Foundation 2025 Rally for Research Grant Series: Duke University Scientist Awarded Pilot Grant to Evaluate Gene Replacement Therapy for APBD and Other Forms of GSD IV
Published April 21, 2026
JUST PUBLISHED: New Study Highlights That Over 34,000 People Worldwide Are Affected by APBD and Other Forms of GSD IV
Published December 14, 2024
Q&A with Priya Kishnani, MD, MBBS and Rebecca Koch, PhD, RDN, LDN

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Recent Publications


Unifying the Communities of Early-Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1-Related Disease.

Journal Article JIMD Rep · May 2026 Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder caused by pathogenic variants in GBE1, resulting in deficient glycogen branching enzyme (GBE) activity and formation of abnormal glycogen ("polyglucosan"). GSD IV manifests across ... Full text Link to item Cite
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Recent Grants


Gene Therapy to Treat the Neurophenotype of Glycogen Storage Disease Type IV

ResearchPrincipal Investigator · Awarded by Adult Polyglucosan Body Disease Research Foundation · 2026 - 2027

Assessment of GYS1 knockdown on Pompe disease

ResearchPrincipal Investigator · Awarded by Alnylam U.S., Inc. · 2025 - 2026

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Education


University of Georgia · 2021 Ph.D.
University of Florida · 2017 B.S.