Genetics & Metabolism
Pediatric Genetics and Metabolism offers diagnosis, management, and genetic counseling for children and adults with disorders known or suspected to be inherited from a family member, resulting from a change in a person’s genetic code. Such disorders include birth defects, chromosomal abnormalities, unexplained mental retardation and inborn errors of metabolism. Our providers play a vital role with the State of North Carolina’s Newborn Screening Program, frequently identifying and treating disorders in newborn from across the state before the effects of a genetic disorder are irreversible. Our faculty are intentionally known for cutting-edge research and new treatments developed from clinical trials spanning decades.
The Mission of the Division of Genetics and Metabolism is to:
- Provide state of the art care and support to children and adults with genetic and inherited metabolic disorders
- Develop and implement innovative diagnostic tests and treatments for genetic and inherited metabolic disorders through cutting-edge research
- Educate students, clinicians, patients and their families as well as the wider community about genetics and genomics
GENETICS & METABOLISM NEWS
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Local news Highlights Stephens’ Family Journey and Muenzer’s Hunter Syndrome Research
A recent story from CBS 17 highlights the journey of Dr. Kim Stephens and her family’s experience living with Hunter syndrome (MPS II). The article also features ongoing research efforts at the UNC School of Medicine focused on developing new treatment approaches for rare genetic disorders.
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Renowned UNC Pediatric Biochemical Geneticist Leads First Study on a Novel Treatment for Hunter Syndrome
Joseph Muenzer, MD, PhD, leads research on groundbreaking therapy that offers hope for patients across the world living with a devastating genetic disorder. Ongoing clinical research at UNC could lead to a first-of-its-kind enzyme replacement therapy for Hunter syndrome, an ultra-rare disorder that causes progressive multisystem disease and neurologic decline.
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Finding Confidence and Opportunity within UNC’s Center for Molecular Medicine
The Center for Molecular Medicine (CMM), formerly the UNC Gene Therapy Center, launched a new effort to give potential Einsteins a foot in the door. The newly revamped Center, located in the Thurston Bowles Building, is buzzing with undergraduates and high school students looking to get a head start on their scientific careers.
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Welcome New Clinical Provider: Mary Clay Federspiel, MSN, CPNP-PC
Mary Clay Federspiel, MSN, CPNP-PC, joined the Muenzer MPS center in the Pediatric division of Genetics & Metabolism as an Advanced Practice Practitioner on December 15, 2025. Ms. Federspiel completed a Bachelor of Science at William & Mary in 2006 and a BSN at the University of North Carolina at Chapel Hill in 2008. She earned her Master of Science in Nursing from the University of North Carolina at Chapel Hill in May of 2012. Most recently, she has been working with the Child Neurology team. In her new role, Ms. Federspiel will be working with Drs. Jalazo and Muenzer on clinical trials developing new therapies for patients with Angelman syndrome and mucopolysaccharidoses as well as other metabolic/genetic disorders. Welcome!