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
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Recent Publications
Variability in Liver Disease Progression and Outcomes in Glycogen Storage Disease Type IV.
Journal Article Hepatol Res · May 7, 2026 Full text Link to item CiteUnifying 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 CiteSuccessful maintenance of normal blood glucose levels in glycogen storage disease 1a during a prolonged open water swim
Conference Molecular Genetics and Metabolism · April 2026 Full text CiteRecent Grants
Investigating the Central Nervous System Involvement in Pompe Disease to Facilitate Targeted Treatment Strategies and Improve Patient Management
ResearchCo Investigator · Awarded by Acid Maltase Deficiency Association · 2025 - 2027Gene Therapy to Treat the Neurophenotype of Glycogen Storage Disease Type IV
ResearchPrincipal Investigator · Awarded by Adult Polyglucosan Body Disease Research Foundation · 2026 - 2027Assessment of GYS1 knockdown on Pompe disease
ResearchPrincipal Investigator · Awarded by Alnylam U.S., Inc. · 2025 - 2026View All Grants
Education
University of Georgia ·
2021
Ph.D.
University of Florida ·
2017
B.S.