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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Haendel to join UNC Genetics, Pediatrics, Data Science & Society to Advance Precision Medicine in NC
Welcome to Melissa A. Haendel, PhD, FACMI, as the Sarah Graham Kenan Distinguished Professor in the Department of Genetics. In addition to her primary appointment, she will also be appointed as professor in the Department of Pediatrics and the School of Data Science and Society.
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A Newborn Genetic Screening Study Reaches New Milestone
A research study named Early Check has screened 1,000 newborns after birth in an effort to help identify rare conditions early, provide treatment, give parents educational information, and connect families with specialists throughout the state of North Carolina.
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Young Joins UNC as Gene Therapy Center Director
The Department of Pediatrics is thrilled to announce that Samuel M. Young, Jr., PhD has accepted the position as a Roper Investigator, Professor with Tenure and Director of the UNC Gene Therapy Center. Dr. Young will join the Department on June 28th, 2024. Dr. Young joins us from the University of Iowa where he is currently appointed as a Professor in the Department of Anatomy and Cell Biology and serves as the Director of the Molecular Auditory Research in the Department of Otolaryngology.
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Four Pediatrics Faculty Selected for Passing the Torch in 2023
Dr. Cara Beth Carr, Assistant Professor in Neonatal-Perinatal Medicine, Dr. Clara Hildebrandt, Assistant Professor in Pediatric Genetics & Metabolism, Dr. Elisabeth Leong, Assistant Professor in Pediatric Cardiology, and Dr. Lindsay Marszal, Assistant Professor in General Pediatrics & Adolescent Medicine have been selected to be a part of the 2023-2024 Passing the Torch Cohort.