Endocrine Abstracts

Abstract unavailable....

The opposite phenotypes of diabetes and hyperinsulinism can be caused by different types of mutations within the same genes. For example, rare activating GCK gene mutations cause hyperinsulinism whereas the more common loss-of function mutations result in mild fasting hyperglycaemia in the heterozygous state or recessively inherited permanent neonatal diabetes.The knowledge that inactivating mutations in the KCNJ11 and ABCC8 genes en...

Abstract unavailable....

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...

S Melmed, Cedars-Sinai Medical Center, Los Angeles, California, USA. AbstractShlomo Melmed received his medical degree with distinction from the University of Cape Town, School of Medicine in 1970. At Cedars-Sinai since 1980, he is now Senior Vice-President for Academic Affairs, and Dean of the Medical Faculty. He is also Professor and Associate Dean of UCLA School of Medicine.Dr Melmed is a Dip...

Abstract unavailable....

Abstract unavailable....

No Network, no Nobel…Networking is a way of life in science. Every rung on the ladder depends on whom you know as well as what you know. The process begins with choice of supervisor and lab for PhD training. By the time the doctorate is awarded, the newly fledged researcher has already accumulated a network of vital contacts that will usually remain of value, personally and professionally, throughout their career. An important early step is ...

Abstract unavailable....