Deafness and Disease Model Discovery
I did my PhD at Cambridge University and before I joined the MRC, I was Professor of Genetics at Imperial College, London.
My research interests cover mouse functional genomics, including the use of mouse mutagenesis and comparative genomic analysis to study the genetic basis of disease and to develop pre-clinical disease models. A particular focus has been the use of mouse models to study the molecular basis of genetic deafness. Along with Karen Steel, I discovered myosin VIIA as the gene underlying the shaker1 mutant, one of the first deafness genes to be identified. Subsequently, I have developed interests in the protein complexes that are involved with stereocilia elongation in hair cells in the inner ear. In addition, over the last ten years I have led a substantial research effort in the genetics of otitis media or glue ear, a common cause of hearing loss in children, employing mouse models to elaborate the key genetic pathways involved and develop novel therapeutic strategies.
I have served on numerous advisory boards and my current appointments include the Advisory Council for the National BioResource Centre, Japan; SAB for the Helmholtz Centrum, Munchen; SAB for the Centre Intégratif de Génomique (CIG), University of Lausanne; and the Strategic Policy Committee, IGBMC, Strasbourg. I am the current Chair of the International Mouse Phenotyping Consortium Steering Committee.
I am a Fellow of the Royal Society, a Fellow of the Academy of Medical Sciences, a member of the European Molecular Biology Organisation and in 2009 was the recipient of the Genetics Society Medal.
In my spare time, I love travelling and exploring new destinations with my family, drinking wine, enjoying good food and reading (sometimes about wine as well!).