Prof Maher is Professor of Medical Genetics and Genomic Medicine, and head of the Department of Medical Genetics at the University of Cambridge. His research interests include clinical and molecular aspects of the genetics of human disease, with a particular focus on human cancer genetics, genomic imprinting and autosomal recessively inherited developmental disorders. Prior to this, Prof Maher established the Centre of Rare Diseases and Personalised Medicine at the University of Birmingham. He has held a European Research Council Advanced Researcher Award and is supported by a variety of national and international funding agencies.