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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Advancing Gene Therapy for CACNA1A Disorders
Dr. Young is leading translational research aimed at treating the root cause of CACNA1A-related disorders. His work is featured in a recent CACNA1A-focused issue of the Community Resonance Foundation’s Rare Awareness Radio ENCORES series, which connects researchers, clinicians, and families through accessible summaries of emerging science and lived experience in rare disease.
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MPS Families Find Community at Carolina Baseball Awareness Night
Families connected to the Muenzer MPS Research & Treatment Center gathered for Carolina Baseball’s MPS Awareness Night—an event designed to raise awareness for mucopolysaccharidoses (MPS), a group of rare genetic disorders, while also giving families time together outside of a clinical setting.
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UNC Pediatrics Celebrates Innovation at 2026 Evening of Scholarship
Pediatrics hosted its annual Thomas F. Boat Evening of Scholarship on May 11, 2026, in Roper Hall, bringing together trainees and faculty to present and award research spanning basic science, clinical care, quality improvement, and education. The event featured a keynote by Bob Vinci, MD, and highlighted outstanding projects and mentorship across a wide range of topics, from global health to genetic discovery.
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Torrice Promoted to Associate Professor of Pediatrics
Lindsay Torrice, MSN, CPNP-PC was promoted to Associate Professor of Pediatrics effective May 1, 2026. Ms. Torrice has been a faculty member at UNC since 2016. Congratulations!