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The aim of this sub-theme is to identify determinants of therapy response and surrogate biomarkers for various diseases.

Genetic markers in cancer

Even the best treatments are not equally effective in all patients. In cancer, particular chemotherapy agents which may be effective in some individuals may cause such severe side-effects in others that treatment has to cease.  The reason for this is not completely understood, but in a project led by Professor Ian Tomlinson, genetic approaches are being used to identify markers in colorectal cancer which may indicate a predisposition to this extreme toxicity or differing response to particular treatments.  The identification of genetic markers in this way may help to guide clinical management of chemotherapy regimens or their avoidance for less aggressive cancers.

Investigating the genetic basis of drug response in epilepsy

In a collaborative project with University College London and the pharmaceutical company UCB, whole genome sequencing is being used to investigate the genetic basis of differential response to a specific anti-epilepsy drug.  The drug has been shown to be highly effective in a proportion of cases of severe refractory epilepsy, and by sequencing a cohort of patients displaying this extreme response, we hope to identify the genetic variants underlying it. This will improve our understanding of drug response in epilepsy, and could be used to test which individuals would be likely to react well to this particular treatment.