The McCarthy group, based at OCDEM and the Wellcome Trust Centre for Human Genetics in Oxford, has a primary interest in using genetic approaches to reveal mechanisms involved in the pathogenesis of type 2 diabetes and related phenotypes including obesity and glycaemia.
In recent years, this work has been driven by the genome-wide association approach. We are part of the Wellcome Trust Case Control Consortium, as well as a number of international genetics consortia including DIAGRAM (T2D genetics), GIANT (anthropometric traits), MAGIC (continuous glycaemic traits), EGG (early growth genetics) and ENGAGE (European Network for Genetic and Genomic Epidemiology). Our recent work has contributed to identification of ~12 loci for T2D, ~10 for obesity and ~15 for fasting glucose and related traits and has resulted in a series of high profile publications in Science, Nature and Nature Genetics.
The group is heavily involved in fine-mapping efforts within these loci (as part of the WTCCC and other efforts) and in the use of next generation sequencing to identify low-frequency penetrant variants at these and other loci. Through participation in the NIHR Biomedical Research Centre in Oxford, we are working on ways to translate these findings into clinical practice.