Bioinformatics, Method Development and Exploratory Research Concerning Human Genome Variation

The human genome varies between normal individuals at around 1/200 bases. Some of these differences influence our risk of disease (like cancer, heart disease, mental illness) and others alter drug reactions. Most people also carry rare ‘mutations’ that cause disease. Modern genomics research is rapidly identifying these polymorphisms and mutations. However, available databases, informatics tools, laboratory methods, and research strategies are not yet able to support comprehensive experiments that we would like to do routinely. The Brookes research laboratory is therefore endeavoring to improve on this, via a series of inter-related projects:

1)Having devised a simple and robust DNA analysis procedure called DASH (Dynamic Allele-Specific Hybridization), we are taking this forward towards a miniaturized high-throughput system and/or a hand-held device capable of scoring large numbers of medically relevant nucleotide differences in parallel, using samples such as blood spots, hair roots, or buccal smears. This project operates at the interface between genetics, chemistry, and micro-engineering.

2)Our bioinformatics activities in support of genome variation research concerns tools for automated assay design, automated interpretation of analysis device outputs, genotype data handling, and result analysis. One major component of this is the establishment of a comprehensive public-domain database summarizing what is known about disease phenotypes and their underlying genotype associations.

3)Using tools developed by us and others, we are exploring basic questions about the structure of human DNA variation. One particular interest is the recent discovery we made that large stretches of DNA are non-unique and vary in presence/absence between individuals. These and other types of sequence variation are being investigated for their distribution in various global samples, to help understand the forces of evolution and human population history.

4)Using tools developed by us and others, we are exploring how genome variation impacts disease. Alzheimers Disease, Rheumatoid Arthritis, and Cardiovascular Disease are major areas of interest. We are working towards a situation in which a sufficiently large fraction of the genetic risk of disease is understood, so that predictive and personalized medicine becomes a reality.


We are an equal opportunities employer and particularly welcome applications for Ph.D. places from women, minority ethnic and other under-represented groups.