Professor Pediatric Genetics and Metabolism Genetics (Research), Department of Pediatrics, University of North Carolina, USA

Joseph Muenzer, MD, PhD, is a Professor in the Department of Pediatrics at the University of North Carolina at Chapel Hill (UNC-CH), where he has practised since 1993. He received a doctor of medicine degree (1976) and PhD in biochemistry (1979) from Case Western Reserve University in Cleveland, Ohio.  He completed a 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, NIH, in Bethesda, Maryland.  Dr Muenzer is actively involved in the diagnosis, management and treatment of patients with inborn errors of metabolism, especially the mucopolysaccharidoses (MPS) and infants detected by tandem mass spectrometry newborn screening. He is board-certified in pediatrics and clinical biochemical/molecular genetics.  He is the Director of the Division of Genetics and Metabolism Biochemical Genetics Laboratory and is Assistant Director of the Pediatric Metabolism Screening Laboratory, UNC Hospitals, North Carolina.  He has been actively involved in developing new treatments for MPS disorders.  His basic research has focused on the development of gene therapy using adeno-associated viral vectors as a treatment for neurological disease in the mucopolysaccharidoses.  He has created a mouse model for Hunter syndrome (MPS II) to aid in the development of this new treatment approach for genetic disorders.  His clinical research has been focused on the development of enzyme replacement therapy for the mucopolysaccharidoses.  Dr Muenzer has been a principal investigator for recombinant enzyme replacement clinical trials for both MPS I and MPS II.  He was the principal investigator for the MPS II Phase I/II Enzyme Replacement Clinical Trial and was the lead investigator for the pivotal MPS II Phase II/III Enzyme Replacement Clinical Trial.