Endocrine Abstracts

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. ...

S O’Rahilly, Institute of Metabolic Science, University of Cambridge, Cambridge, UK AbstractStephen O’Rahilly graduated in Medicine from University College Dublin in 1981. From 1982 to 1991 he undertook postgraduate clinical and research training in general medicine, diabetes and endocrinology in London, Oxford and Harvard. In 1991 he obtained a Wellcome Trust Senior Clinical Fellowship and established his l...