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Date(s) - 30/04/2013
2:00 pm - 3:00 pm

SGDP seminar room


Genome Wide Association Studies as a Tool for Translation

Dr. Michael Barnes

Director of Bioinformatics, William Harvey Research Institute, Queen Mary University of London.

Email : m.r.barnes@qmul.ac.uk

The scale of recent investment in genome-wide association studies (GWAS) is exceeded only by the expectation of the medical breakthroughs that these studies may bring. It has been proposed that GWAS could provide new insight into the molecular basis of disease and inherent disease risk, identify novel therapeutic targets and allow stratification of patients by their likely drug response. These expectations are not entirely unfounded, the results of GWAS to date have already provided valuable biological insights for many common diseases, however the translation of genetic findings from GWAS into the clinic remains limited and a topic of intense debate. This is nowhere more evident than around the GWAS-fuelled market for direct to consumer genetic testing. The development of new therapies based on insights from GWAS has been much slower by contrast. This might be explained in part by the decade or more from target identification to approved marketed drug, with most successful GWAS reporting only in the past five years or so. In terms of impact on personalised medicine, the modest effect size of variants identified by GWAS has not generally been applicable to individually tailored medicine, with a few notable exceptions.

So where can GWAS make a translational impact now? Some of the potential applications of GWAS data will be reviewed, particularly opportunities for drug repositioning – arguably the quickest win. Beyond the obvious therapeutic opportunities, progress and prospects for GWAS data in other areas will also be reviewed, particularly as personal genome information begins to infiltrate the clinic.


Sanseau, P, Agarwal P, Barnes MR, Pastinen T, Richards JB, Cardon LR, Mooser V. “Use of genome-wide association studies for drug repositioning“.  Nature Biotechnology, (2012), 30(4),317-320

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