Joseph Muenzer, MD, PhD
Professor of Pediatrics and Genetics
Dr. Muenzer has been at the University of North Carolina at Chapel Hill since 1993 as a Pediatric Biochemical Geneticist or metabolic specialist. He received his medical degree and PhD in biochemistry from Case Western Reserve University in Cleveland, Ohio. He completed his residency in pediatrics at the University of Wisconsin Hospitals, Madison, and a genetic/endocrine fellowship at the National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.
Dr Muenzer is board certified in:
- Pediatrics; and
- Clinical Biochemical/Molecular Genetics.
He is actively involved in the diagnosis, management and treatment of patients with inborn errors of metabolism, especially mucopolysaccharidoses (MPS) and infants detected by tandem mass spectrometry newborn screening.
His clinical research interests are directed towards better understanding the natural history of metabolic disorders and the development of new treatments, such as enzyme replacement therapy and gene therapy for MPS.
His basic research interests have focused on the development of adeno-associated viral (AAV) gene therapy as a treatment for the neurological disease in Hunter syndrome (MPS II). He has created a mouse model for MPS II.
He was a principal investigator for the recombinant enzyme replacement clinical trials for MPS I and MPS II and is currently the principal investigator for a phase I/II intrathecal enzyme replacement clinical trial for the severe form of Hunter syndrome.
Dr Muenzer has received the recognition of Best Known Doctors in America numerous times and is considered to be an international expert on MPS.