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Written by cdutcher   
Thursday, 03 May 2012 18:51



Joseph Muenzer is a Professor in the Department of Pediatrics and a Research

Professor in the Department of Genetics at the University of North Carolina at Chapel Hill, where he has practiced since 1993. 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.  Dr. Muenzer is recognized as an international expert on the management and treatment of patients with MPS.


Dr. Muenzer received his Doctor of Medicine (1976) degree and PhD. (Biochemistry, 1979) 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.


His research interests have focused on the development of new therapies for patients with MPS. He has created a mouse model for Hunter syndrome (MPS II).  Dr. Muenzer has utilized the MPS II mouse to develop adeno-associated viral (AAV) gene therapy as a treatment for the neurological disease in the severe form of MPS II.  His clinical research interests are directed towards the development of recombinant enzyme replacement therapy (ERT) for MPS. He was a principal investigator for the ERT clinical trials for MPS I and the lead international investigator for the ERT clinical trials for MPS II which resulted in approval of new treatments for patients with MPS I and MPS II.  Dr. Muenzer is currently the principal investigator for a phase I/II intrathecal enzyme replacement clinical trial for the severe form of MPS II.


Joan's son is 31 years old with MPS II.  He was diagnosed at the age of five.  She joined the parent support group for his illness shortly after his diagnosis.  During the years of 1986 through 1998, she was actively involved in the support group as treasurer and conference coordinator. After that time, she continued to be active in hosting family get togethers as well as raising funds not only for the support group, but also for a camp for children with life threatening illnesses.

Last Updated on Thursday, 17 May 2012 18:41
Would you have a child if there was a 50% chance they would have a severe medical disorder?
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Christopher Dutcher