Profile

I am heading a group of 14 people working on the genetics of common diseases in humans and in particular coronary artery disease (CAD) and myocardial infarction (MI). We asseble very large collections of CAD / MI patients (cases) and individuals without the disease (controls) and then scan their genomes at polymorpic sites to identify DNA changes that differ in frequency between the two groups and this is statistically significant. There are several known risk factors for CAD such as family history, high lipid levels, high blood pressure, diabetes, and smoking so in parallel we conduct studies in the normal population looking for DNA changes that mark for example high cholesterol and we then go go back to test them in case-control studies. The first findings though only represent disease ‘markers’ we don’t actually know which gene and DNA change are disease causing. So we have to perform functional tests for example check whether a DNA change affects the transcription of a gene or give rise to a protein with altered properties. Work in model organisms such as mouse and zebra fish where it is possible to ‘knock out’ a gene give vital clues as to how a gene of interest functions. But genetic factors is not the whole story and therefore we also investigate epigenetic changes for example there are DNA sites that are methylated and methylation levels vary between individuals. Finally, we know that the environment plays a major role in disease and we want to undersytand how genetic and environmental factors interact.