I have always been fascinated by the role that genetics plays in human variation. I strongly believe that identifying regions of the genome that influence susceptibility to a particular disease is an important first step towards understanding its biological basis. I consider myself very fortunate to be working as a geneticist at a time when it is possible to do just this, and I'm proud to have played a key role in projects that have identified over 300 associations between genetic variation and immune-mediated disease risk.

My team is now working on a number of experiments to extend our genetic association studies to uncover rare variants underlying inflammatory bowel disease risk (IBD). We are currently analysing whole-genome sequence data from approximately 5,000 IBD cases and 4,000 UK population controls (sequenced as part of the UK10K project) and whole-exome sequence data from 150 individuals with severe, early-onset IBD.

We are also undertaking a number of experiments to better understand the biological consequences of disease-associated genetic variation, the vast majority of which lie in non-coding parts of the human genome. This work involves screening the transcriptome (e.g. RNA-seq) and epigenome (e.g. ATAC-seq) of disease-relevant primary tissues (for example, epithelial and immune cells from the gastrointestinal tract) from patients and controls. We are also in the early-stages of designing experiments to look at the consequences of the intestinal microbiota on gene-expression and IBD risk. All of our IBD research is carried out in close collaboration with the UK IBD Genetics Consortium.