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Approved Research

Genetic evaluation of rare diseases with polygenic origin and Mendelian diseases of monogenic origin for drug discovery research.

Principal Investigator: Dr Jaison Jacob
Approved Research ID: 89918
Approval date: September 9th 2022

Lay summary

This study aims to leverage the rich phenotyping/genotyping data in the UK Biobank resources to (i) identify and prioritize novel or complimentary targets for therapeutic interventions of human diseases, (ii) identify prevalence of rare diseases and potential genetic variants associated with the disease, (iii) evaluate potential adverse effects of modulating an existing or novel therapeutic target , (iv) identify drug repositioning strategies for existing approved drugs through using human genetics, and (v) identify causal biomarkers associated with diseases of interests for novel medicines.