L2-2 Genetics and Pathophysiology of Human Obesity and Metabolism

Program: Plenary
Session: L2-Thursday Afternoon Plenary
Translational
Stephen O'Rahilly, MD, FRCP
University of Cambridge Metabolic Research Laboratories, Cambridge, United Kingdom
Talk Description:

The genetic component of quantitative metabolic traits is complex with a mixture of common alleles of small effect and rarer alleles of larger effect. We have principally focused on finding the latter through the study of extreme human phenotypes of obesity and insulin resistance, including lipodystrophy. By applying both candidate and hypothesis-free genetic approaches we have identified multiple different genetic variants that cause highly penetrant forms of these diseases.

Nothing to Disclose: SO
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