Objective

The majority of drugs that enter clinical trials fail due to the lack of efficacy. This highlights the need to explore additional sources of evidence to inform drug discovery. The completion of the human genome sequencing project, in addition to high through-put technologies, have both led to a rise in genome-wide association studies (GWAS) and whole-genome/exome sequencing experiments. This resulted in an unprecedented explosion of knowledge on the number of genes and genetic variants that influence common complex diseases and rare mendelian diseases. In this talk, I will focus on how human genetics can be used to guide therapeutic target identification with a particular focus on translational data from GWAS. I will also discuss how human genetics can serve as a target validation tool to inform drug development (and/or repositioning) through the study of genetic variants that naturally occur in genes encoding drug targets. I will conclude by describing the Open Targets Consortium, a partnership between academia and industry, that integrates large-scale genetics and genomics data together with drug information to create new biological evidence and influence the way drug targets are identified, prioritised and validated.