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Approved research

Utilizing the UK Biobank Genetic and Phenotypic Data to Investigate and Further Define the Role of Functional Genetic Variation in Human Health and Disease in Support of Therapeutic Discovery

Principal Investigator: Dr Shannon Bruse
Approved Research ID: 34229
Approval date: February 22nd 2018

Lay summary

Human genetics is now an integral part of pharmaceutical R&D. It has been shown that drug targets with human genetics evidence are more likely to proceed from early clinical development to approval. We aim to utilize the comprehensive genetic and phenotypic data available in the UK Biobank resource to identify and validate novel therapeutic targets, particularly those relevant to common diseases in the cardiovascular, metabolic, respiratory and immunological domains, where there is still significant unmet need. In particular, we plan to employ Phenome-Wide Association Studies (PheWAS) to evaluate the relationship between potentially druggable targets and relevant health outcomes. The proposed research aims to generate and test hypotheses about the role of functional genetic variation in disease pathophysiology in order to elucidate potential therapeutic targets. Our hope is that this will lead to new treatments for patients in need. In this way, the proposed research is fully aligned with the UK Biobank?s aim of improving the prevention and treatment of illness. In order to generate potential therapeutic hypotheses, genetic variants (particularly those with evidence for a functional consequence on gene product/expression) will be evaluated alone and in groupings for association with a broad range of phenotypes that are available in the UK Biobank resource and that are relevant to health and disease. Resulting hypotheses will be further validated and refined, to arrive at a set of potential therapeutic targets for which there is high-confidence, corroborative evidence that therapeutic modulation of the target will result in improved outcomes for patients and for which there is no evidence of safety concerns. We request data for the full cohort