Program in Medical and Population Genetics

The Broad's Program in Medical and Population Genetics brings together a scientific community focused on understanding how genomic variation contributes to susceptibility to human disease and to an individual's response to therapy. Experts in population genetics, statistics, molecular biology, genomics, and bioinformatics collaborate to characterize common genetic variants and establish their role in disease.

Scientists in the Program in Medical and Population Genetics share ideas and launch collaborative projects to tackle key challenges. The program also works closely with scientists in the Genetic Analysis Platform. In addition, it collaborates with many other labs in the Harvard-MIT community and elsewhere.

Major areas of focus include:

Human genetic variation

Understanding the pattern of common genetic variation in the human population is a major focus of the program. First, this involves generating a systematic catalog of the common single-nucleotide polymorphisms (SNPs) in the human population. Second, it involves characterizing the correlations among nearby SNPs (known as haplotypes), making it possible to design genetic studies that are more efficient and powerful. With such information, it becomes possible to undertake systematic studies of the genetic factors underlying inherited susceptibility to common diseases.

Population genetics

Patterns of genetic variation shed light on recombination, demography, admixture, and evolutionary selection in the human population. In turn, knowledge about human population history helps inform studies in medical genetics.

Metabolic disease

The genetic basis of diseases associated with hormonal imbalance is being investigated. These include diabetes, obesity, and cardiovascular traits, in collaboration with colleagues in Sweden and in the Framingham Heart Study.

Cancer susceptibility

Cancer risk is a combination of genetic and environmental factors. Genetic risk factors in hormone-dependent cancers are being studied, in collaboration with the USC-based Multi-Ethnic Cohort Study.

Inflammatory disease

Studies are focused on the genetic basis of autoimmune diseases such as Crohn's disease, ulcerative colitis, systemic lupus erythematosus, rheumatoid arthritis, and multiple sclerosis.

Medical and Population Genetics scientists are at the heart of genetic analysis projects across Broad, collaborating in the design and interpretation of genetic and genomic research efforts by developing computational methods that enable scientists to recognize and understand gene variation patterns and their influence on disease and drug response.