Genetics and Metabolism
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 UNC-Chapel Hill, and the Gene Therapy Center.
Ongoing Clinical Trials and Studies
- Genetic Determinants of Neurological and Developmental Disorders
- PIK3CA Related Overgrowth Syndromes (PROS) Clinical Trial