Dr. Mark McCarthy is a world-renowned expert in the genetic basis of metabolic diseases with a distinguished career spanning leading academic and industry institutions. He currently serves as Executive Director of Human Genetics and Principal Fellow at Genentech, where he leads strategic efforts to leverage human genetics for therapeutic development and precision medicine applications. Prior to his transition to the biotechnology industry in 2019, he held the prestigious Robert Turner Professorship of Diabetic Medicine at the University of Oxford for many years, establishing himself as a global authority in diabetes genetics. During his tenure at Oxford, he also served as Senior Research Fellow of Green Templeton College and Chairman of the Oxford Centre for Diabetes, building a multidisciplinary research program that bridged clinical medicine and genomic science. His academic training includes medical qualifications with MA, MB, B.Chir., and MD degrees, providing a strong foundation for his translational research approach that connects genetic discovery with clinical applications.
Professor McCarthy's pioneering research has fundamentally advanced our understanding of the genetic architecture of type 2 diabetes and obesity through large-scale genomic investigations involving hundreds of thousands of individuals worldwide. His multidisciplinary research team, comprising clinicians, research nurses, laboratory scientists, and computational biologists, has identified numerous genetic variants associated with diabetes susceptibility and pathophysiology, transforming our understanding of disease mechanisms. His systematic functional characterization of candidate causal genes for type 2 diabetes risk variants has provided critical biological insights that have reshaped therapeutic target validation approaches in the field. Notably, his work on a glucose-lowering GLP1R variant demonstrated protective effects for coronary heart disease, illustrating how genetic discoveries can reveal unexpected connections between metabolic pathways and cardiovascular outcomes. His evaluation of type 2 diabetes genetic risk variants across diverse populations, including the large-scale China Kadoorie Biobank study of 93,000 individuals, has advanced precision medicine approaches to diabetes prediction and prevention globally.
Beyond his direct research contributions, Dr. McCarthy has played a pivotal role in international collaborative consortia that have defined the field of diabetes genetics, establishing new standards for large-scale genomic analysis of complex diseases. His work exemplifies the translational potential of human genetics, using causal insights derived from genetic analyses to drive biological inference and identify novel therapeutic approaches for metabolic disorders. At Genentech, he continues to advance the integration of human genetics into drug discovery and development, positioning the company at the forefront of applying genetic insights to therapeutic innovation. His leadership has established new paradigms for understanding how genetic variation influences disease risk and treatment response, bridging population genetics with molecular mechanisms. Dr. McCarthy remains committed to translating genetic discoveries into tangible health benefits through continued innovation in therapeutic target identification and personalized prevention strategies for diabetes and related metabolic conditions.
