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.