Oxford Centre for Diabetes, Endocrinology and Metabolism and Wellcome Centre for Human Genetics, University of Oxford, UK
Mark McCarthy is the Robert Turner Professor of Diabetes Medicine at the University of Oxford based at both Oxford Centre for Diabetes, Endocrinology and Metabolism and the Wellcome Centre for Human Genetics. His research group is focused on the identification and characterisation of genetic variants influencing risk of type 2 diabetes and related traits, and on using those discoveries to drive biological inference and translational opportunities. He has played a leading role in many of the major international efforts to identify the genetic variants that influence predisposition to type 2 diabetes including DIAGRAM, T2DGENES and GoT2D. These consortia have used genome wide association and sequencing approaches to identify over 400 genetic signals for type 2 diabetes. Equivalent efforts focused on diabetes-related traits, including obesity, fat distribution and birthweight have been similarly productive. With collaborators, his group’s activities are now increasingly focused on the exploitation of these discoveries to gain insights into the biological mechanisms underlying disease development. Integration of genetic association signals with genomic annotations derived from pancreatic islets and other diabetes-relevant tissues is providing robust insights into the molecular and pathophysiological mechanisms through which many of these signals operate. This also makes it possible to use this information to open new translational opportunities through target validation, risk stratification and biomarker discovery.
Individual risk of common complex diseases such as type 2 diabetes is influenced by the impact of variation at many hundreds of loci, in combination with a wide range of exposures experienced over an individual’s life course. A deeper understanding of these factors, and the mechanisms through which they influence disease risk and development, is a prerequisite if we are to develop more effective strategies for prevention and treatment. My group leads efforts to find these genetic signals (over 450 now known), to fine-map the causal variants, and to define the genes and pathways through which they act, either directly in the case of coding variants, or indirectly for those with regulatory effects. This mechanistic view of T2D pathophysiology provides a framework for thinking about risk stratification, target validation and biomarker discovery.
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