Professor Andrew WilkieUniversity of Oxford
Professor Andrew Wilkie has been an Honorary Consultant in Clinical Genetics at the Oxford University Hospitals NHS Trust since 1993 and Nuffield Professor of Pathology at the University of Oxford since 2003. He is a Wellcome Trust Senior Clinical Research Fellow and Professor of Genetics at the University of Oxford.
His first important contributions were in the descriptions of the presentation and molecular basis of the alpha-thalassaemia/mental retardation syndromes. A clinical geneticist who studies genetic disorders affecting the skull and limbs, especially craniosynostosis — premature fusion of the sutures of the skull. He identified the gene mutation responsible for Apert syndrome and the molecular pathways underlying this and other craniosynostosis conditions. His findings have led to many clinical diagnostic tests.