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Dr Michael Johnson has been awarded a 4-year MRC Industrial CASE PhD Studentship to work with GlaxoSmithKline.

has been awarded a 4-year MRC Industrial CASE PhD Studentship to work with GlaxoSmithKline on a project aimed at exploiting copy number variation (CNV) for stratified medicine and drug repurposing. The aim of the PhD is to identify CNV associated with drug response using a range of pharmacogenetic (PGx) datasets and next generation sequencing (NGS).

Although it is well known that CNV accounts for substantial genetic variation in humans, and about 80% of FDA-approved drugs have targets that are subject to CNV, the role of CNV in drug response has been largely ignored. Michael and (Department of Epidemiology) hypothesised that knowledge of CNV in human populations can be used to inform individual drug-response for drugs whose protein target is impacted by CNV.

The project will make use of several PGx datasets including Michael’s prospective epilepsy pharmacogenetic cohort. In addition, next generation sequence data from the UK10K project, together with deep sequence data on 202 drug target genes provided by GSK, will be used to generate a detailed map of CNV in drug-target genes as well as genes involved in drug absorption, distribution, metabolism and excretion (ADME genes). This CNV map will provide a resource for genotyping CNV in future PGx studies, as well as a way of connecting existing drugs to new disease indications (repurposing).