The recent sequencing of the human genome has accelerated scientific discoveries in genetics related to medicine and animal and plant science. Research universities in Georgia, supported by government funding and collaborations with private industry, conduct leading-edge research that contributes to improved prevention, diagnosis, and treatment of genetically caused diseases. The Georgia Research Alliance, a university, business, and government partnership, has been a key supporter of genetics research through eminent scholars, research laboratories and equipment, and technology incubators.
Newborn Genetics Screening
The state of Georgia has paid for newborn genetics screening since 1978. The program, developed in collaboration with the Emory University School of Medicine’s Department of Human Genetics and Genetics Laboratory, tests all Georgia newborns for thirteen inherited diseases, including metabolic diseases. Emory, located in Atlanta, is one of the nation’s leading research and treatment centers for inherited diseases, including lysosomal enzyme diseases, fragile X syndrome, and Down syndrome. Emory scientists are leaders in developing new enzyme replacement therapies for children born with Gaucher disease and Fabry disease, screening and treatment for maple syrup urine disease, and FISH technology (fluorescence in situ hybridization, which allows physicians to look for chromosomal abnormalities under a microscope). Emory’s large staff of genetics counselors works with parents and prospective parents at centers throughout the state. In addition, genetics counseling and screening to predict adult cancers has developed rapidly since scientists discovered altered genes that increase the risk of breast, ovarian, and colon cancers.
University Genetics Research
Several of Georgia’s research universities have extensive research centers focused on genetics. The Department of Human Genetics at the Emory University School of Medicine includes both laboratory research and clinical treatment programs in one of the largest academic genetics departments in the nation. Emory has the world’s largest research program on fragile X syndrome to be funded by the National Institutes of Health (NIH). The gene responsible for fragile X syndrome, the most common cause of inherited intellectual disability, was discovered by Emory professor Steven T. Warren, who led an international team of scientists. Warren and his team also have developed screening techniques and are working on potential new therapies for fragile X syndrome, which affects 3,500 individuals in Georgia either directly or as carriers. Emory geneticist Stephanie Sherman’s discovery of what is known as the “Sherman Paradox,” in which genetic diseases caused by the triplet repeat of amino acids are not passed on to offspring with the usual probabilities common among most genetic disorders, has been invaluable in helping physicians predict risk for these genetic diseases.
Through support from the NIH, scientists at Emory and the Centers for Disease Control and Prevention have conducted sixteen years of research on the causes and clinical consequences of Down syndrome through the Atlanta Down Syndrome Project. All Atlanta-area newborns with Down syndrome and their parents are eligible to participate in the project. In 2000 the NIH expanded the Atlanta project into the National Down Syndrome Project by adding five other research centers (in Arkansas, California, Iowa, New Jersey, and New York).
The Department of Genetics at the University of Georgia (UGA) in Athens includes many faculty who teach genetics to undergraduate and graduate students. Graduate research and training includes molecular genetics, evolutionary biology, and genomics. Four genetics faculty members are also members of the prestigious National Academy of Sciences.
The UGA Center for Applied Genetic Technologies (CAGT) brings together diverse expertise in plant and animal genomics, DNA markers, and transformation (a process of genetic alteration) and provides state-of-the-art facilities and instrumentation. Within CAGT are research labs and the Georgia BioBusiness Center incubator, which supports start-up companies in the biosciences by providing them access to management expertise and sophisticated instrumentation.
The Center for Biotechnology and Genomic Medicine at Georgia Health Sciences University in Augusta was developed to promote interdisciplinary research in genomics, proteomics (concerned with analyzing proteins produced by genes), and bioinformatics (computer collection and classification of genomic information). The center provides sophisticated facilities for microarray analysis, proteomics, and computational technologies. Current research focuses on autoimmunity and type 1 diabetes and its complications, and on cancer.
The NIH-supported Southeast Collaboratory for Structural Genomics (SECSG) is a networked center across four southeastern states with five partner institutions: the University of Georgia, Georgia State University in Atlanta, the University of Alabama at Birmingham, the University of Alabama in Huntsville, and Duke University in Durham, North Carolina. The research focus of SECSG is high throughput computational strategies to determine the structure of proteins using X-ray crystallography and nuclear magnetic resonance. These strategies will eventually be used to scan rapidly the entire genome of an organism.
University-based technology incubators assist start-up companies in transferring university-developed technologies to industry. Several of these Georgia companies are focused on genetics research. At the Georgia BioBusiness Center, these companies include Abeome (genome-antibody-proteome); APGEN (applied phytogenetics); AviGenics (avian biotechnology); BresaGen (embryonic stem-cell therapies); PhyGen (plant biotechnology); and ViaGen (commercial breeding). At Emtech Bio, an Emory and Georgia Institute of Technology incubator, early-stage companies include geneRx+ (gene- and protein-based technologies for pulmonary diseases) and Vivonetics Inc. (RNA detection). At Georgia State’s incubator, CollabTech, companies include Ana-Gen Technologies (pharmacogenetics); GeneCure LLC (gene-based therapies); and Zygogen LLC (genomic drug discovery).