Welcome to Biomedical Genetics

Biomedical Genetics 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.

Biomedical Genetics 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 our program’s mission, Biomedical Genetics 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.

A Message from the Chief

Please take a few moments to browse our web site where you will find information on our research, teaching missions, graduate and postgraduate training programs, career opportunities, faculty, students and staff, as well other exciting developments within Biomedical Genetics.

Medical Genetics in the Post Genome Era

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.

Biomedical Genetics Today

Presently, our Biomedical Genetics program constitutes the largest concentration of human genetics research at either the Medical School or Charles River Campus at Boston University and is among the best funded and regarded in the country. Indeed, the increased awareness and need to understand the relationship between the approximately 30,000 human genes and susceptibility to disorders of public health concern (including infectious disease) is expressed in the current panoply of projects, spanning a range of research from molecules to populations. Our research is funded by the National Institutes of Health, private industry and non-profit foundations, and includes the following areas:


Drug addiction

Sickle Cell disease

Developmental genetics

Mitochondrial genetics

Chromosome Biology

Huntington Disease

Alzheimer disease

Exceptional longevity

Macular degeneration



Molecular Transport

Parkinson disease

We attract graduate students from a wide array of Master’s and Ph.D programs throughout Boston University (e.g., molecular medicine, bioinformatics, epidemiology, microbiology) to pursue dissertation research in our laboratories. Postdoctoral fellows find many opportunities for expanding technical skills and apprenticing for exciting careers in academic medicine and private industry. After you have browsed a bit, please feel free to contact any of the members of the faculty or trainees to get the inside story about our research and training programs or about our Information Technology capabilities and Molecular Genetics Core Laboratory services. We look forward to sharing our enthusiasm about our Program.

December 9, 2010
Primary teaching affiliate
of BU School of Medicine