Large scale genome-wide association studies (GWAS) have identified risk genes for virtually every complex human trait. As well as offering fascinating insights into disease biology, gene mapping offers translational opportunities.
Firstly, mapped genes are more likely to represent drug targets for the disease of interest. Secondly, knowledge of the genetic basis of putative disease risk factors can enable powerful causal inference (Mendelian Randomization). Thirdly, judicious use of genetics-based predictions (e.g. via polygenic risk scores) has the potential to alter disease risk or outcomes.
In my talk I will describe examples of these from a range of complex human diseases. Given recent excitement about polygenic risk scores, I will focus particularly on the evidence to date and translational prospects for the future for prediction using genetic information.
Associate Professor Stuart MacGregor
Associate Professor MacGregor is a statistical geneticist and Head of the QIMR Berghofer Statistical Genetics Group. Stuart is an NHMRC Senior Research Fellow who has made seminal contributions to our understanding of complex trait genetics for a wide range of diseases. He plays a leading role in consortium science, particularly in the area of genome-wide association studies (GWAS).
He is a current NHMRC Program grant holder, with his Program on the genetics of glaucoma receiving the top mark nationwide for this grant scheme in 2018. His work developing and applying statistical genetic methods has led to publications in top journals such as Nature, Nature Genetics and American Journal of Human Genetics.
He is a past recipient of the Australian Academy of Science Human Genetics Medal.
Seminar host: Professor Naomi Wray
About IMB Friday Seminar