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- Professor of Cardiovascular Genetics
- Centre for Cardiovascular Genetics
- Institute of Cardiovascular Science
- Faculty of Population Health Sciences
I graduated from University of Cape Town in Physiology and Microbiology, but was captivated by genetics. As a result I came to UCL to study for a PhD in Microbial Genetics working under Prof Dan Lewis FRS, in the Dept of
Microbiology. I obtained my PhD in 1972 and continued working in the field for 9 years. This was a time when molecular genetics was developing and I decided to take a sideways step to work in human genetics, with an interest in understanding human disease. I joined Professor Steve Humphries' lab in 1985 and have been in the field of Cardiovascular Genetics since then. Over that period I feel I have made a valuable contribution to the study of heart disease as a multifactorial/ polygenic disorder. My focus has been the study of genes involved in lipid metabolism. In 2000 I obtained both a DSc from London University and became in MRCPath. In 2004 I was promoted to Professor of Cardiovascular Genetics. I am on the editorial board of several journals and have been a member of the executive committee of the British Atherosclerosis Society, The European lipoprotein Club and the International Society for Nutrigenetics and Nurtigenomics. I currently teach on several BSc and MSc courses at UCL. I am course organiser of the new MSc in Cardiovascular Science run through the Institute of Cardiovascular Science which will start in October 2012.
I head the Lipid Subgroup within the Centre for Cardiovascular Genetics, in the newly formed Institute of Cardiovascular Science. The focus of the work has been the study of genes involved in lipid metabolism and their contribution to heart disease risk. Initial studies were carried out to compare the effect of genetic variation at the apoE, apoB, AI-CIII-AIV-AV and lipoprotein lipase loci on variation in lipid levels in the general population, focusing on interaction with environmental modulators. More recently the studies have diversified to test, both in vivo and in vitro, the molecular mechanisms of specific mutations identified in these and other candidate genes using prokaryotic and tissue culture expression systems. We are now testing the efficacy of using genetic information for CHD calibration, precision and risk prediction. We are part of UCLEB, a consortium formed including researchers from UCL/Edinburgh and Bristol to bring together the large prospective studies that together number >30,000 individuals followed for 10-30 years. These studies are richly phenotyped and we have used both the 50K Cardiochip and 200K Metabochip to genotype these studies. We are using a gene score approach to examine the association with Cardiovascular risk factors and events.
I also have an interest in Gene Ontology and have a small group working with me annotating genes involved in Cardiovascular Processes, funded by the British Heart Foundation.
My educational interests are the Genetics of Cardiovascular Disease, encompassing both common and rare variants. I am also interested in the interaction of environmental factors with CHD risk genes.
I teach on the undergraduate Human Genetics and Biochemistry of Lipids courses and the Molecular Medicine MSc.I am on the teaching executive of the MSc in Complex Diseases and run the Cardiovascular Genetics Module. I am chairperson of the newly developed MSc in Cardiovascular Science which will be run by the Institute of Cardiovascular Science starting 2012. I supervise several BSc and MSc students who undertake research projects in our lab.
I am committed to mentoring and feel that such a scheme which supports, inspires and guides postdoctoral fellows and PhD studnets benefits their careers both in the Institute and in the scientific community as
a whole and improves the morale of the Insititute.