Dr Koeberl attended Carleton College, and Mayo Medical School and Graduate School, and went to UCSF for his pediatrics residency. He completed fellowship training in Clinical and Biochemical Genetics at the University of Washington, before joining the Division of Medical Genetics in the Department of Pediatrics at Duke University in 1999. He was recruited to Duke by Dr. Y-T Chen, who developed enzyme replacement therapy that became the standard of care for Pompe disease. He serves as Medical Director for the Pediatrics Biochemical Genetics Laboratory and sees patients in the Metabolic Clinic. At Duke his research has focused upon the development of new therapy for inherited metabolic disorders, especially for the glycogen storage diseases. He has developed drug and gene therapy for glycogen storage disease types I and type II (the latter is Pompe disease). In 2019 he initiated a clinical trial of gene therapy for Pompe disease. His laboratory is developing gene editing with CRISPR/Cas9 for glycogen storage diseases type I and II.