Matthew Hurles PhD

Dr. Matt graduated with a degree in Biochemistry from Oxford University in 1996, and received his PhD from the University of Leicester in 1999 for work on the population genetics of human Y chromosomal polymorphisms. He then worked as a postdoctoral research fellow in population genetics at the University of Cambridge, focusing on the prehistory of Pacific populations and patterns of molecular evolution in duplicated sequences. During his postdoctoral research Matt established the molecular mechanism underlying a recurrent deletion of part of the Y chromosome, which causes male infertility.

Since 2003, Matt has led a major initiative to characterise structural variation in the human genome, and integrate this knowledge into disease and population genetic studies. This research combines large-scale data generation together with novel statistical analyses, and resulted in the first published genome-wide map of copy number variation in 2006, and along with Manolis Dermitzakis in 2007, demonstrated the impact of this form of variation on gene expression. His group has also developed novel experimental methods to probe the mutational mechanisms underlying genetic variation, which, in 2008, allowed identification of clinical syndromes that are being under-diagnosed. More recently, Dr Hurles has lead the construction of a comprehensive map of common copy number variation, and its integration into studies of common disease susceptibility, published in Nature in 2010. Dr Hurles also co-led, with Dr Sadaf Farooqi, the identification of nested microdeletions, which cause severe early-onset obesity, published in Nature in 2010. Dr Hurles is leading efforts at the Wellcome Trust Sanger Institute to apply genome-wide resequencing methods to the study of rare diseases.