Immune System Genomics

Technological advances are enabling more comprehensive studies of the human immune system than ever before possible. Instead of testing single hypotheses at great expense, these new approaches can monitor thousands to millions of molecular features in each individual, and then use the power of large cohorts to associate specific features with aspects of disease or therapy. This revolution in the genetic and epigenetic analysis of human disease is quickly changing how we define disease, how we predict outcomes, and how we identify therapeutic targets. Our hope is to harness these advances to deepen our understanding of immune diseases and devise new therapeutic paradigms that address the specific molecular and cellular properties of an individual’s disease, rather than the generic definition of that disease.

Genetics of autoimmune and inflammatory diseases

The Broad has been a pioneer in the mapping of genetic loci associated with immune diseases, including inflammatory bowel disease, rheumatoid arthritis, lupus, multiple sclerosis, and others.

Team members: Xavier, De Jager, Daly, Bernstein, Raycaudhuri, Hacohen

Genomic characterization of healthy human cohorts

How human genetics impacts immunity in an individual is a central question in modern immunology. We have collected samples from large cohorts of healthy individuals to study how common alleles impact the immune response.

Team members: Xavier, De Jager, Hacohen, Regev, Benoist

Immune Cell Atlas

We are using genomic technologies to discover the cell types and states of the immune system. While traditional methods have identified cell types based on surface markers and monitored a small number of expressed genes to define activation states, we have now developed more unbiased approaches to find new cell types of the immune system and identify pathways, transcription factors, and signatures associated with each cell type.