Funder(s): Wellcome Trust
MI Researcher(s): Catherine Heeney

From January 2014 Catherine Heeney has been working on the Risk strand of the Wellcome Trust funded project Making Genomic Medicine, headed by Steve Sturdy in the Department of Science, Technology and Innovation Studies, at the University of Edinburgh. The focus of the work is to understand how risk is related to historical developments leading up to and following from the mapping and sequencing of the human genome. Of particular interest is the relationship between notions of risk and the technological and collaborative strategies used to process and extract meaning from the enormous amount of data available in the genomic era.

The focus of the research will be and the various factors leading to Wellcome Trust Case Control Consortium, which in 2007 published a hugely important paper with results from a Genome Wide Association Study for common complex diseases. The associations found via this method between disease phenotype and Single Nucleotide Polymorphism (SNP) loci is considered to represent a susceptibility to developing one or more diseases. Whilst finding a clinical application of this type of knowledge is still a work in progress, GWAS and the WTCCC has had a profound effect, most notably by making common disease a question to be answered using genomic tools and knowledge.