In 1996 Duke University Medical Center established the Center for Human Genetics (CHG), a program designed to attract physicians and scientists interested in pursuing genetics research.   The initial projects were based on the exciting discovery of genetic variants in the APOE gene increasing risk of Alzheimer’s disease and in identification of genes for other forms of familial neurological disease.  Dr. Allen Roses served as the first Director of the CHG until 1998 after which Dr. Margaret Pericak-Vance directed the CHG until 2006. Most recently the Center was led by Dr. Elizabeth Hauser from 2007 following the untimely death of Dr. Marcy Speer who was Director in 2006 and 2007. 

The CHG was involved in more than 300 research studies relying on the expertise of its member genetic epidemiologists, biostatisticians, genome biologists, genetic counselors, physicians, physician’s assistants and molecular biologists.   CHG faculty and staff participated in the mapping or identification of genes in more than 50 diseases, including Alzheimer’s disease, heart disease, glaucoma, autism, age-related macular degeneration, Parkinson Disease, muscular dystrophy and multiple sclerosis.  Collaborations spanned virtually all medical specialties including psychiatry, pulmonary medicine, surgery, cardiology, radiology, obstetrics & gynecology, ophthalmology, nephrology, and pediatrics among others.

The CHG established innovative systems for data analysis and storage coupled with high-throughput genetic assays.  These systems have transitioned to handle new forms of genetic and genomic data from epigenetic, gene expression, whole genome association arrays and sequencing assays with validation through functional studies.  This allows for integration of genomic signatures of disease with metabolomics, proteomics and biomarkers to understand the mechanisms of disease development for both basic and clinical science research.    We continue to embrace the core CHG mission to discover genetic influences on human health and to characterize the relationship between genetic and environmental influences.  This mission is intimately linked to the goal of improving the diagnosis, treatment, and prevention of disease and makes the Center for Human Genetics a fundamental component of the DMPI.