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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 affiliate 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

Recent Publications


Plasma glial fibrillary acidic protein (GFAP) is a biomarker for central nervous system involvement in infantile-onset Pompe disease.

Journal Article EBioMedicine · January 2026 BACKGROUND: Pompe disease (PD), caused by acid α-glucosidase (GAA) deficiency, leads to glycogen accumulation in various tissues including the central nervous system. While enzyme replacement therapy (ERT) is lifesaving, it does not cross the blood-brain b ... Full text Link to item Cite

Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience.

Journal Article Genet Med · December 2025 PURPOSE: This study details the long-term clinical outcomes in adult participants with CRIM-positive infantile-onset Pompe disease treated with enzyme replacement therapy (ERT), initially reported in 2012 (n = 11). METHODS: Medical records were reviewed fo ... Full text Link to item Cite
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Recent Grants


Assessment of GYS1 knockdown on Pompe disease

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

GYS2 knockdown on liver disease in hepatic GSD

ResearchPrincipal Investigator · Awarded by Alnylam Pharmaceuticals · 2025 - 2026

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Education, Training & Certifications


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