College of Natural Resources

Grant Detail

This is a chronological listing of grants held by this department, with the most recent listed first. New grants appear in this list weekly and contribute related to the department's Research Profile. The source of grants for this application comes directly from your institution.

Medical Genetics Counseling Unit

Aylsworth Arthur

The purpose of this grant is to support the infrastructure for a comprehensive program in medical genetics and genetic counseling at The University of North Carolina at Chapel Hill (UNC-CH). The mission of our program includes providing medical genetics services for North Carolina citizens and their physicians, and promoting a greater awareness of genetic disorders among physicians and health care workers. Our goals are to provide genetic diagnostic evaluations, counseling, and management services for families with known or suspected genetic disorders, to reduce the North Carolina infant mortality rate, to identify factors that cause birth defects, mental retardation and other handicapping conditions, and to prevent the occurrence of these conditions. We promote greater awareness of genetic disorders among physicians and health professions as we provide families with diagnosis, treatment, and management services. Our services include diagnosing genetic and non-genetic disorders in children and adults, counseling these patients and their families, and providing long-term medical management and follow-up. Diagnostic services frequently include extensive investigations that would not be possible without this grant. Patients are seen here at the UNC Hospitals and at several satellite clinics in the South Central region. Cytogenetics, biochemical genetics, and molecular genetics services are available here in our own laboratories. Collaborations with medical geneticists elsewhere have been established to provide patients with access to laboratory services not available here. The UNC Health Sciences Library and online databases are utilized to provide up-to-date, comprehensive information to families. Our faculty provides primary consultation to the State Newborn Screening Laboratory to develop and interpret diagnostic assays and to management children with inborn errors of metabolism. We are making a major commitment of time and energy to prevent neural tube defects with periconceptual folic acid. Our program also provides training and education in medical genetics for physicians, physicians in training, and other medical personnel here at The University of North Carolina at Chapel Hill and elsewhere around the state.