Research at Strangeways

The overarching theme of Strangeways' research is the identification of genetic and lifestyle determinants of common disease, and their application to prevention.

A wide range of disciplines are relevant to this field, and the Laboratory has brought together researchers in epidemiology, molecular genetics, bioinformatics, statistics and public health.

This interdisciplinarity is a particular strength of Strangeways and is, so far as we are aware, unique.

The largest component of the work focuses on cancer, but there are also research groups working on heart disease, diabetes and osteoporosis.

Much of the work revolves around the analysis of genes and other blood-based markers, and lifestyle risk factors, in large-scale epidemiological studies.

The laboratory space at Strangeways, much of which is now in a new University building completed in 2003, provides facilities to process and store many thousands of blood samples from these studies, and to allow rapid genotyping of large numbers of genetic markers.

Another major theme is the statistical analysis of data from epidemiological studies, and the synthesis of data from studies worldwide to provide reliable estimates of the effects of different factors on disease risk. Groups at Strangeways co-ordinate such collaborations in breast and ovarian cancer, vascular disease and in other areas.

A major focus of the research at Strangeways is the identification of genetic variants that underlie susceptibility to common disease.

Many 'high-risk' mutations for disease have been identified through family studies, however, such mutations are usually very rare in the population and do not account for an appreciable burden of disease. Much recent attention, therefore, has focussed on the identification of commoner variants that may confer more-moderate disease risks.

Such variants can be identified by studying them in large series of diseased individuals. However, because there are about 10 million such variants, the task of choosing the right ones to test owes much to chance, with the result that few positive associations have been identified.

Now, however, with improvements in genotyping technology and the increasing catalogue of human genetic variation, empirical 'whole genome' approaches to the identification of disease-associated variants are fast becoming practicable.

The large population-based collections of cases and controls that have been assembled at Strangeways will provide the basis for such studies.

Specifically, groups at Strangeways are now conducting a genome-wide association study in breast cancer, which will involve genotyping over 250,000 single nucleotide polymorphisms (SNPs). This study is one of the first of its kind, and was completed at the end of 2005.

The analysis and interpretation of the complex data from these studies represent a major challenge that will also be a primary theme at Strangeways.

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