Mark McCarthy

Mark McCarthy is currently Senior Director of Human Genetics at Genentech, where he leads efforts within the company to use human genetics to advance the understanding of disease and further the development of novel therapeutic and preventative approaches. Prior to his move to the Bay Area in 2019, Mark was Robert Turner Professor of Diabetes Medicine at the University of Oxford. His academic research focuses 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 played a leading role in major international efforts to identify the genetic variants that influence predisposition to type 2 diabetes including DIAGRAM, T2DGENES and GoT2D: these consortia used genome wide association and sequencing approaches to identify over 400 genetic signals for type 2 diabetes. With collaborators, his research has become increasingly focused on combining genetic and genomic data (gathered from diabetes-relevant tissues such as pancreatic islets) to gain insights into the molecular and pathophysiological mechanisms through which these signals operate. These discoveries reveal new translational opportunities in terms of target validation, risk stratification and biomarker discovery. At both Oxford and Genentech, one major research focus is the capacity to combine genetic and genomic evidence to stratify disease risk, and to dissect the etiological heterogeneity within broad clinical diagnoses (such as type 2 diabetes) in ways that explain individual variation in clinical outcomes such as disease progression, complication risk and therapeutic response.