I am interested in using genetic and genomic approaches to understand the aetiology of common and rare forms of metabolic disease, with a focus on type 2 diabetes and obesity. I have established the Metabolic Disease Group at the Sanger, where recently we have been using genome-wide association approaches to identify genes with a role in obesity and quantitative traits related to type 2 diabetes. In this we work closely with colleagues Dr Sadaf Farooqi and Professor Steve O’Rahilly in our obesity work, as well as Dr Claudia Langenberg, Dr Ruth Loos and Professor Nick Wareham at the MRC Epidemiology Unit.
In addition, we work with many other groups across the world in large consortia, such as GIANT and MAGIC, that aim to increase power by performing meta-analyses across many different studies. In collaboration with Professor Stephen O’Rahilly, Dr David Savage, Dr Rob Semple and Dr Sadaf Farooqi we have conducted many candidate gene sequencing projects in patients with severe insulin resistance and severe childhood onset obesity, which led to the discovery of causal mutations underlying the phenotype in affected individuals. More recently, we have started to use exon pulldown and new sequencing technology to sequence the entire exome of patients with rare forms of insulin resistance in collaboration with Rob Semple, David Savage and Steve O’Rahilly. Also in collaboration with Steve O’Rahilly, David Savage , Rob Semple and Sadaf Farooqi, and within the recently launched UK10K project, we will be obtaining exome sequences for a number of patients with syndromes of insulin resistance and severe childhood onset obesity. The use of next generation sequencing allows us to conduct unbiased approaches to identify novel rare variants (mutations) that may underlie disease in affected individuals with extreme forms of disease.