Research Programs
About Our Research
Research efforts within the Pediatric Genetics and Metabolism division include projects involving: chromosomal deletion syndromes, ELSI (ethical, legal and social implications) of genetic and genomic research, inborn errors of metabolism, universal newborn screenings, congenital disorders and birth defects, gene therapy, mucopolysaccharidoses and other lysosomal storage disorders, enzyme replacement therapies, fragile X syndrome, congenital hearing loss and deafness, mitochondrial disorders, and many more.
Our faculty collaborates in these projects with colleagues across campus, including researchers working throughout the School of Medicine, the Center for Bioethics, the Center for Genomics and Society at ºÚÁÏÍø-Chapel Hill, and the Gene Therapy Center.
Our Researchers
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Associate Professor of Pediatrics
Division Chief of Pediatric Genetics and Metabolism
Assistant Professor of Pediatrics
Assistant Professor of Pediatrics
Bryson Distinguished Professor of Pediatrics
Assistant Professor of Pediatrics
Roper Investigator, Professor of Pediatrics
Director of the ºÚÁÏÍø Gene Therapy Center