Wellcome Trust Centre for Human Genetics, Roosevelt Dr.
In my thesis research, I focus on the evolutionary history of genetic variation in the human genome, as it is of considerable relevance for complex disease research. This interest derives from several developments: the recent technological advances which allow us to study human genetic information in unprecedented detail, the understanding that low frequency variants may play a significant role in disease susceptibility, the appreciation that genes involved in the aetiology of a genetic disorder are likely to carry non-neutral evolutionary signatures, and the fact that rare variants have accumulated in recent evolutionary times in the human genome, marking them as informative for both population genetics and human disease research.
My interest concerns rare genetic variation and its impact on complex disease. I integrate population genetic analyses with applications in disease-association of rare variants. The goal of my research is to develop the framework that allows us to estimate the age of rare variants across different populations, to infer signals of (deleterious) selection that may have affected protein function and the disease phenotype in question.
I plan to develop the methodology necessary to work with (protein-coding) sequence data obtained from type 2 diabetes (T2D) cases and controls in multi-ethnic cohorts, and to characterise differences of the genetic architecture underlying this complex disease. My work is jointly supervised by Gil McVean and Mark McCarthy.