The Genetics Program is a cross-disciplinary team of clinicians, biostatisticians, genetic epidemiologists, geneticists, biochemists and information technology specialists working together to discover the links between complex human disease and genes.
The Genetics Program is presently directing projects involving multiple academic centers and private industry to identify genes for several complex diseases including metabolic syndrome and Alzheimer’s disease. The Program is also actively involved in research projects in substance abuse, sickle cell disease, inflammatory bowel disease, mental illness, longevity, and the Framingham Heart Study. Cancer Genetics and Developmental Genetics are a major focus of our research labs.
As a part of the educational component of the Genetics Program’s mission, the Genetics Program offers a variety of opportunities for training leading to a Ph.D. in a genetics specialty including genetic epidemiology and molecular genetics. Our faculty teach a variety of graduate level courses in medical genetics and epidemiology on the Medical Campus.
For biomedical researchers both on campus and off, our program’s Molecular Genetics Core Lab provides services for DNA extraction, sequencing, genotyping and cell line cultures.
Recent advances in information technology, statistical genetic methodology, molecular genetics and bioinformatics, aided by funding for the human genome project, have heralded discoveries about the pathogenesis of many rare genetic conditions such as cystic fibrosis, Huntington disease, and Duchenne muscular dystrophy. These technologies have also furthered our understanding of common disorders including breast cancer, Alzheimer disease, and atherosclerosis through studies of families segregating classically inherited forms of these disorders. However, the genetic basis of common diseases is still enigmatic. The reasons for this include phenotypic and genetic diversity, and complex (and poorly understood) interactions between genes and the environment. These issues are addressable by studying very large and well characterized populations for a wide array of genetic and other risk factors. Successful performance of such studies requires skills and experience integrated from multiple disciplines including genetic epidemiology, biostatistics, molecular genetics, systems biology and information technology.
The Genetics Program brings together specialists in all of these areas who, through individual as well as highly collaborative research programs, are working to find genes modulating risk and expression of diseases and other human traits. These genes are potential diagnostic/predictive markers and therapeutic targets.