Department of Human Genetics
Edmund C. Jenkins, Ph.D., Chairperson
Scientists in the Department of Human Genetics are studying inherited disorders and chromosomal abnormalities that cause or are associated with developmental disabilities. The Department seeks to identify genetic causes and to devise long-term strategies for the treatment and prevention of genetic forms of intellectual and developmental disabilities. Prevention of many forms of developmental disability is closely related to the early recognition and diagnosis of genetic causes. Members of the department have pioneered in the development and application of new molecular diagnostic tests, particularly for Fragile X syndrome and for the neuronal ceroid lipofuscinoses, including Batten disease.