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 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
Preprint · December 17, 2025 Full text CiteInfantile-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 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 - 2027Assessment of GYS1 knockdown on Pompe disease
ResearchPrincipal Investigator · Awarded by Alnylam U.S., Inc. · 2025 - 2026GYS2 knockdown on liver disease in hepatic GSD
ResearchPrincipal Investigator · Awarded by Alnylam Pharmaceuticals · 2025 - 2026View All Grants
Education, Training & Certifications
University of Georgia ·
2021
Ph.D.
University of Florida ·
2017
B.S.