Principal Investigator: Dr Maya Ghoussaini
Wellcome Trust Sanger InstituteTags: 33896, Association, SNPs, target-identification
We are interested in drug target discovery and validation. We will therefore use the genetic data from the UK biobank to look for associations between genetic variants and diseases to predict and prioritise drug targets. We will also use the wide range of genetic, physiological, biochemical, and clinical outcomes simultaneously to understand the relationships between intermediate phenotypes and diseases and decipher the pathophysiology of disease processes. Finally, we will interrogate genetic variants that lie in genes encoding drug targets to predict possible drug effects. Phenome wide association between these variants and other conditions will inform drug development and repositioning.
The proposed research project aims to identify drug targets, predict drug effects and look at associations between genetic variants and different traits and disease. Therefore, the data requested will aid understanding disease biology and improve disease prevention and treatment which is in line with UK Biobank purpose. GWAS summary statistics generated through this proposal will be returned to UK Biobank in parallel to their release on the Open Targets platform. Open Targets consortium is a partnership between academia and industry, which integrates genetics, genomics and drug information to influence the way drug targets are identified, prioritised and validated.
We will look for association between genetic variants, diseases and intermediate phenotypes to 1) Prioritise drug targets based on genetic evidence 2) Build a network/matrix of diseases-intermediate phenotypes 3) Understand disease aetiology and shared genetic susceptibility loci.
We will compare GWAS of self-reported medical conditions to electronic medical record data to better understand strengths and weaknesses of self-reported medical conditions.
Finally, we will investigate the effect of genetic variants in genes encoding drug targets to predict possible drug effect. We will then look for association with other conditions to predict the potential benefits and side effects of new drug targets.
We would like to request access to the full UK Biobank cohort of 500,000 individuals and the full range of phenotypes/clinical outcomes.