Trusted Resources: People & Places
Online groups, photo galleries and blogs
Joseph Muenzer, MD, PhD
Researcher Professor
Department of Pediatrics
University of North Carolina
101 Manning Drive
Chapel Hill, North Carolina, United States
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 practiced since 1993. He received his MD and PhD in Biochemistry from Case Western Reserve University. Dr. Muenzer completed a Residency in Pediatrics at the University of Wisconsin Hospitals and a Genetic/Endocrine Fellowship at the National Institute of Child Health and Human Development. He 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. Joseph Muenzer 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 Hospital.
Joseph Muenzer has been actively involved in developing new treatments for the 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. 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.
Representative Publications:
The Nature and Impact of Neurobehavioral Symptoms in Neuronopathic Hunter Syndrome
Related Content
-
Hurler Holes in Hunter SyndromeA 16-year-old male presented to our hosp...
-
Glenn O’NeillSince its creation, the Foundation has g...
-
Prenatal Diagnosis of Mucopolysaccharidoses Type II by Two-Dimensional Electrophoresis and Mass Spectrometry in Amni...To introduce a quantitative determinatio...
-
Mucopolysaccharidosis Type II: A Kenyan Case SeriesHunter syndrome, or mucopolysaccharidosi...
-
Klane K. White, MD, MScKlane K. White, MD, MSc is a Pediatric O...
-
Natalia Gomez-Ospina, MD, PhDNatalia Gomez-Ospina is an Assistant Pro...
-
A Guide to Understanding MPS II (Hunter Syndrome)MPS II belongs to a group of inherited m...