An important question in science is how variation in our genetic code leads to differences in our physical characteristics and propensity to develop various diseases. A related problem is understanding the processes which, over long periods of time, have resulted in the genetic differences among humans that we see today.
In the past three decades, breakthroughs in the technology used to determine the genetic sequence of a person have enabled significant progress towards these goals. More specifically, many genes have now been linked to specific diseases and we have gained a better understanding of the recent as well as ancient history of the human species.
While significant progress has been made in answering the two key questions above, much remains to be understood. An important challenge to further progress is posed by patterns of similarity at different levels: for example, more closely-related people share a higher proportion of their genetic code; and some diseases are closer than others in the physical mechanisms that underlie them. If ignored, such patterns can lead to false conclusions in genetic research; however, careful modelling can avoid this and contribute to a deeper and more nuanced understanding of human biology.
In this project, we aim to study these similarity patterns with the goal of improving both our understanding of the connection between genetics and physical traits and disease risk as well as our knowledge of human demographic and evolutionary history. We expect our project to extend over three years in a first stage.
Findings from our work have the potential to identify previously-unknown links between parts of our genetic code and different diseases, which may allow for the development of new medical treatments by finding potential drug targets. They may also shed light on our history as a species, both recent and ancient, which would be of general scientific and public interest.
This data will be used by my group to investigate the project aims over the next 3 years.