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 such as height or hair colour; however, some variants can also be linked to disease risk. A large number of genetic variants are currently linked to common diseases that affect the immune system, such as type 1 diabetes, rheumatoid arthritis, coeliac 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. Often we do not know the exact mechanisms through which these variants act to disrupt critical molecular pathways that cause diseases.
Our group combines immune and genomic assays to study the human immune system with a goal to map genetic variants to functional cellular effects. We are passionate about translational research and we work closely with Open Targets to advance our findings to new drug therapies.