Welcome to the Department of Human Genetics. The Department was founded in 2001 as part of the Emory University School of Medicine through the restructuring of the existing Department of Genetics and the incorporation of the entire Division of Medical Genetics from the Department of Pediatrics. Today, the DOHG has 37 full-time faculty members, including 12 recent recruits from such institutions as the University of Chicago, Harvard, Johns Hopkins, Yale, Stanford, and the National Human Genome Research Institute. The faculty are engaged in all the missions of medical school comprising research, teaching and clinical service. The majority of the research in the Department focuses directly on human disease and has major strengths in neurogenetics, metabolic disease, and translational research. The DOHG is home to the National Down Syndrome Project and a National Fragile X Syndrome Research Center (with Baylor College of Medicine), incorporating the largest research program on this disorder in the nation, continuously funded by the National Institutes of Health since 1986.

Recent faculty recruitment has substantially increased our research activities in statistical genetics, comparative genomics, proteomics, microarray technology, and human model systems, including transgenic non-human primate models. Our total federal funding for research exceeds $7,000,000 per year and the Department has a number of active industrial partnerships. The Department also currently houses the editorial offices of The American Journal of Human Genetics, the leading journal in this discipline.

The DOHG has a vibrant clinical program, organized under the Division of Medical Genetics. The Division holds numerous weekly general and specialized genetic clinics for children and adults and has responsibility for all in-patient consultation and management of genetic disease in 6 metro Atlanta hospitals. In addition, several outreach clinics are held throughout the state and the Division is the referral center for Georgia’s newborn screening program. Clinical management of newborns identified with metabolic diseases is provided by the Nutrition Section within the Department. A number of clinical research protocols are conducted by the Department, including enzyme replacement trials for Fabry’s and Gaucher’s diseases carried out by the Center for Lysosomal Disease. Within the Department are three large clinical laboratories (Emory Genetic Laboratories) providing cytogenetic, biochemical and molecular diagnostics for hundreds of genetic diseases. EGL receives over 28,000 patient specimens per year from throughout the country and is the major national referral center for several genetic disorders.

The Department also has a strong educational mission. Department faculty teach an award-winning 1st year medical student course that was among the first such medical genetics courses taught in US medical schools. In addition, the Department has a fully ACGME-accredited clinical genetic residency program and offers training in all American Board of Medical Genetics subspecialties. The unique combination of a fully-fledged basic research faculty along with the comprehensive clinical genetics division, places the Department of Human Genetics at the forefront of contemporary translational research and training.

- Stephen T. Warren, Ph.D., Chairman