Joseph Muenzer, MD, PhD

Professor of Pediatrics and Genetics

MuenzerDr. 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. 

Dr. Muenzer’s clinical research staff is comprised of:
Heather Preiss has been involved in MPS research with Dr. Muenzer since 2003 and is a certified clinical research coordinator active in 5 MPS clinical trials. She has a strong rapport with families and enjoys patient care within the pediatric population enrolled in these studies. Prior to working with Dr. Muenzer, she worked in the Pediatric Intensive Care Unit at UNC for 12 years. In her spare time, she enjoys spending time with her 15 y/o son and their three lab mix rescue dogs.
Lucy McDaniel recently joined the staff as a study coordinator, working previously in the Children’s Short Stay Unit at UNC where some of the MPS clinical trial patients are admitted. She is busy outside of work attending school part time to pursue an FNP degree and at home with her 1-year-old son.  
Sarah Richardson has been with the staff since 2011, with a concentration on scheduling patients, lab work, billing and reimbursement. She also enjoys interacting with patients and their families. In her spare time, she enjoys making jewelry to sell at local craft fairs.  
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Pediatric Genetics and Metabolism
117 Medical School Wing E
CB# 7487
110E N. Medical Drive
UNC School of Medicine
Chapel Hill, NC 27599-7487

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