I have long been interested in how genetic variation contributes to human diversity, especially that which underpins common complex diseases of the gastrointestinal tract. GWAS have given us a wealth of signals where genetic variation contributes to disease susceptibility, and while characterising these is a primary step in translating this knowledge into improved patient outcomes, this is not trivial. My work focusses on using large-scale scRNAseq to characterise tissues affected by inflammatory bowel disease, conducting eQTL analysis to identify disease effector genes at scale and examining how these effects vary across cell and tissue contexts.
Previously, I undertook my PhD at the Institute of Genetics and Cancer, University of Edinburgh, where my work focussed on characterising how a single colorectal cancer risk locus contributed to disease susceptibility. To this end, I combined computational analyses with experimental techniques across in vitro and in vivo models, before opting to focus on large scale identification of disease genes in my current role.