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 in Medical Genetics at Duke University. Her current research includes defining the natural history, pathophysiology, and factors related to treatments for inherited metabolic disorders, with a focus on glycogen storage disease.
Current Appointments & Affiliations
Assistant Professor of Pediatrics
·
2024 - Present
Pediatrics, Medical Genetics,
Pediatrics
Recent Publications
Expanding therapeutic options for Pompe disease: a new small molecule inhibitor of glycogen synthase 1 (GYS1) shows preclinical promise in Pompe disease.
Journal Article Ann Transl Med · December 24, 2024 Full text Link to item CiteOptimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation.
Journal Article Mol Genet Metab Rep · December 2024 Infantile-onset Pompe disease (IOPD) is caused by a deficiency in the enzyme acid alpha-glucosidase (GAA). It is characterized by severe and progressive hypertrophic cardiomyopathy and muscle weakness with death in the first 2 years of life if left untreat ... Full text Link to item CiteProgressive liver disease and dysregulated glycogen metabolism in murine GSD IX γ2 models human disease.
Journal Article Mol Genet Metab · December 2024 Hepatic glycogen storage disease type IX γ2 (GSD IX γ2) is a severe, liver-specific subtype of GSD IX. While all patients with hepatic GSD IX present with similar symptoms, over 95 % of patients with GSD IX γ2 progress to liver fibrosis and cirrhosis. Desp ... Full text Link to item CiteRecent Grants
GYS2 knockdown on liver disease in hepatic GSD
ResearchPrincipal Investigator · Awarded by Alnylam Pharmaceuticals · 2025 - 2026GSD Ib Natural History Study
ResearchProject Manager · Awarded by Sophie's Hope Foundation · 2023 - 2025Defining the clinical characteristics for clinical trial endpoints of GSD VI and IX
ResearchPostdoctoral Associate · Awarded by Kriya Therapeutics · 2022 - 2024View All Grants
Education, Training & Certifications
University of Georgia ·
2021
Ph.D.
University of Florida ·
2017
B.S.