A large proportion of human DNA sequences are identical when individual people are compared. However, each of us also carries many differences in DNA sequence (genetic variants). The vast majority of these variants are harmless, e.g. they can contribute to the normal variability in individuals; however, some variants have been linked to diseases. A plethora of genetic variants are currently linked to common diseases that affect the immune system, such as type 1 diabetes, rheumatoid arthritis, celiac disease and inflammatory bowel disease amongst others.
The molecular mechanisms by which genetic variants predispose an individual to the development of immune diseases are largely unknown. Many of these variants localise close to DNA sequences which do not code for proteins (genes), indicating that they may have a gene regulatory function in immune cells. We do not however, understand the exact mechanisms through which these variants may act to disrupt critical molecular pathways that cause diseases. Our group combines immunologic and genomic assays to study the human immune system with a goal to map genetic variants to functional cellular effects.