Human & Medical Genetics Research

This century has at its doorstep the amazing promise of understanding and treating a large number of inherited human diseases. At Emory the impressive interaction between the clinical and public health faculty, diagnostic laboratories, and basic scientists offers a unique opportunity to study patient populations using innovative methods. Areas of research include studies of inborn errors of metabolism (e.g., galactosemia, maple syrup urine disease), chromosomal disorders (Down syndrome), single gene disorders (e.g., fragile X syndrome, Huntington disease), and multifactorial disorders (e.g., dementia, epilepsy, autism, infertility, cancer, depression, schizophrenia and bipolar disorder). Cutting-edge molecular biological techniques, state-of-the-art proteomics technology, stem cell technology, genetic epidemiological methods, multi-omics approach, and directed evolution studies are just some of the approaches being used to assess the genetic and environmental factors involved in disease traits. Copy number variation (CNV) in humans, the wide spread and only recently appreciated occurrence of common and rare deletions and duplications, is an exciting research opportunity to analyze CNV in populations as well as in patients. Opportunities also exist for interested students to attend weekly Clinical Conference and Grand Rounds presentations