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1637686551-8c433e2500008236
Name
Joseph Muenzer
Bio
Joseph Muenzer, MD, PhD, is a Professor of Pediatrics and Genetics in the Department of Pediatrics at the University of North Carolina at Chapel Hill (UNC-CH), where he has practiced 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 has been actively involved in developing new treatments for the MPS disorders. He has created a mouse model for Hunter syndrome (MPS II) to aid in development of new treatment for MPS II. Historically, his clinical research focused on the development of intravenous enzyme replacement therapy for the mucopolysaccharidoses. Dr Muenzer has been a principal investigator for intravenous recombinant enzyme replacement clinical trials for both MPS I and MPS II. He is a principal investigator for the phase I/II and the phase II/III intrathecal enzyme replacement clinical trial for the severe form of Hunter syndrome and a principal investigator for a gene editing clinical trial for adults with MPS II.