Oxford Centre for Diabetes Endocrinology & Metabolism and the Wellcome Centre for Human Genetics at the University of Oxford, UK.
Anna Gloyn is Professor of Molecular Genetics & Metabolism and a Wellcome Trust Senior Fellow based jointly at the Oxford Centre for Diabetes Endocrinology & Metabolism and the Wellcome Centre for Human Genetics at the University of Oxford. Anna’s current research projects are focused on the translation of genetic association signals for type 2 diabetes and glycaemic traits mechanisms for beta-cell dysfunction and diabetes. Her group uses a variety of complementary approaches, including human genetics, genomics, physiology and islet-biology to dissect out the molecular mechanisms driving disease pathogenesis.
Over the past decade, genome wide association studies (GWAS) have emerged as the dominant strategy for human genetics discovery. In terms of locus detection this approach has proved extremely effective with hundreds of loci identified which influence type 2 diabetes risk and glycaemic traits. Each of these loci has the potential to reveal novel insights into biology, and to underpin future translational advances. However several of the characteristics of these loci have served as an obstacle to efforts to connect each of these signals to the gene through which the effect on diabetes risk is mediated, the so called “effector transcript” and thereby access knowledge and functional approaches which are generally focused on transcript biology. Recent developments in high throughput genomics has provided strategies for data generation and integration which now offer highly-efficient approaches for connecting the risk-variants to their effector transcripts. This presentation will focus on recent efforts to use a variety of these approaches to unlock the biology at GWAS signals for type 2 diabetes.
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