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
- North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 (NCGENES2): The “North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing, 2 (NCGENES 2)” study is part of a larger consortium project investigating the clinical utility, or net benefit of an intervention on patient and family well-being as well as diagnostic efficacy, management planning, and medical outcomes.