Research Biographies

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Biomedical Genomics

Group Leader


Contact Details

E-mail address:
Telephone: +44 (0)131 651 8613
Address: MRC Human Genetics Unit MRC IGMM, University of Edinburgh Western General Hospital, Crewe Road, Edinburgh EH4 2XU
Research Programme: Evolutionary Genetics and Genomics



I joined the Biomedical Systems Analysis section of the MRC Human Genetics in 2010 to establish a new research group working on Evolutionary Genetics and Genomics (EGG). I was previously a Senior Research Associate at the EMBLEuropean Bioinformatics Institute (EBI), working with Dr Nick Goldman on the application of advanced evolutionary models to understand genome evolution. I moved to the EBI in November 2006 from the Wellcome Trust Centre for Human Genetics (University of Oxford), having started there in August 2002. In Oxford, I worked with Professor Richard MottDr Richard Copley and a range of collaborators on several genetics and genomics projects, as well as running my own program of research in comparative genomics.


Prior to working in Oxford, I spent several months at the MRC Human Genetics Unit in Edinburgh, providing bioinformatics support to the UK Mouse Sequencing Consortium, working closely with Professor Ian Jackson and also contributed to the international FANTOM2 project during this time.


From 1997 to 2001 I was working toward my Ph.D. the "Comparative and molecular characterisation of a schizophrenia susceptibility locus" under the supervision of Professor David Porteous. The Ph.D. was a four year program jointly funded by the MRC and SmithKline Beecham (now part of GSK) at the Human Genetics Unit (Edinburgh), which involved three rotation projects in the first year, including an enlightening three months in the Bioinformatics department at SmithKline Beecham (Harlow). My Ph.D. was a roughly even mix of laboratory based molecular biology investigations and computational based methods development and application.


My bachelors degree in Genetics was obtained from the University of Liverpool in 1997 (B.Sc. hons, first-class). Although formally a degree in genetics, this course introduced a wide variety of related topics including biochemistry, virology, microbiology, physiology, development, animal behaviour and evolution.


Academic Qualifications 

  • Bachelor
    • 1997, Bachelor of Science, 1st, University of Liverpool
  • Doctorate
    • 2002, Doctor of Philosophy, PhD, University of Edinburgh

Research in a Nutshell

Improving our understanding of genetic differences between species allows us to better interpret genetic risk in people. We are all at risk of developing a wide range of diseases, some very common, including heart disease, diabetes, dementia and cancer. But such risks differ hugely between individuals, and are to a large degree influenced by the sequence of DNA in our cells.


The big question is which of the many thousands of DNA differences between individuals are responsible for increasing or decreasing their risk of developing a given disease. The historic record of evolution can provide some answers. We can read it as the differences in DNA between species, for example human versus mouse. The pattern of differences between species can reveal functionally important regions of DNA. Contrasting the between species pattern with the differences between people can point to the critically important changes that influence disease risk.


More broadly, we compare how DNA has changed between species with the differences between people. This allows us to study why and where DNA changes (mutations) arise, and what the functional consequences of those changes are. We are applying these methods to understand the genetic basis of many rare and common diseases.