About the Division of Genetics and Metabolism

Genetics PhotoHistory

In 1969, the Division of Genetics and Metabolism in the Department of Pediatrics became one of the first state-funded programs in the country. Continuous funding since that time through the Children and Youth Branch of the Women's and Children's Health Section, Division of Public Health (DPH) for the State of North Carolina, has helped support clinical services to patients and their families.  

The division has evolved from a small core group in 1970 into a comprehensive medical genetics program with four physicians, two PhD clinical cytogeneticists, four genetic counselors and two metabolic dietitians.

The Division Today

Biochemical Genetics and Metabolism Section

The Division of Genetics and Metabolism includes experts in its Biochemical Genetics and Metabolism Section. This section provides testing to confirm metabolic disorders in infants, children and adults and provides long-term follow-up care to these patients. The division plays a significant advisory role in the North Carolina Screening Program. Because of this, N.C. Children's Hospital serves as the major referral center for infants with abnormal metabolic screens throughout the state.

As newborn screening in the United States marks its 50th anniversary this year, UNC and the state of North Carolina's has a long established legacy as national leaders in innovative technologies that have improved and increased testing for conditions that can have devastating consequences without early detection. Continuing this tradition, the division is proud of being one of only four medical centers in the country to be awarded a five-year, $5.8 million grant from the National Institutes of Health to study the utility of next generation sequencing to further expand newborn screening. Cynthia Powell, MD, the division's chief, is a principle investigator of this study along with Jonathan Berg, MD, of the Department of Genetics at UNC. 

Other members of the division also play an important role in research in the field. Joseph Muenzer, MD, a biochemical geneticist in the division, is known world-wide for his expertise in the use of enzyme replacement therapy for patients with metabolic disorders known as mucopolysaccharidoses (MPS). He is currently conducting a clinical trial that gives enzyme replacement into the cerebral spinal fluid of patients with MPS II (Hunter syndrome) to prevent the neurologic deterioration that can occur in some patients with this form of MPS. If proven successful, this technique will have utility for many other forms of metabolic disorders.  

Clinical Genetics and Dysmorphology Section

The Clinical Genetics and Dysmorphology Section provides diagnostic evaluations, genetic counseling and recommendations for health care management to children with birth defects, developmental disabilities and genetic disorders. 

Arthur Aylsworth, MD, is involved not only in the clinical evaluation and care of patients with genetic disorders but with several epidemiologic studies of birth defects including cleft lip and palate.

Cynthia Powell, MD, recently collaborated with a group of researchers who identified the genetic cause of a condition known as Native American myopathy, which affects some members of the Lumbee tribe in North Carolina. The condition causes infants to be born with cleft palate, club feet, and other joint problems, scoliosis and susceptibility to some types of anesthesia.  

Other research areas include clinical trials for patients with phenylketonuria (PKU), gene therapy, clinical utility and ethical issues of whole exome sequencing, ethical issues of expanded newborn screening, epidemiology of birth defects, and genetic studies of autism and hearing loss.

Education

The Division of Genetics and Metabolism also has a long history of excellence in teaching at UNC. The founder and first division chief, the late H. Neil Kirkman, MD, was recognized by current NIH director, Francis Collins, MD, as influencing his career choice as a medical student at UNC.

The division has provided post-doctoral training in genetics for five decades and has had an ACGME-accredited medical genetics residency program since 1997 and ABMG-accredited clinical laboratory training programs since 1986. 

Faculty in the division teach in all four years of the medical student curricula and provide clinical elective rotations for residents in primary care and specialty residencies. 

Learn more about the division and meet the team by visiting the Division of Genetics and Metabolism's website.

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