Andrew Wilkie is 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.
Andrew’s discovery that the mutation causing Apert syndrome was far more common than expected led him to develop the ‘selfish selection’ theory, which states that there is a proliferation or survival advantage for some mutations in the testis. Over time, sperm-generating cells carrying such mutations become prevalent, explaining why some conditions are more common in children born to older fathers.
The Ras molecular pathway — demonstrated by Andrew to be the common factor in paternal age effect conditions — is also important in the development of nerves and tumours. Consequently, his work has implications for other diseases, including autism and cancer. Andrew has experience in bioethics and is a member of the British Society for Genetic Medicine and EMBO, the European Molecular Biology Organization.
Honorary Consultant in Clinical Genetics, Oxford University Hospitals NHS Trust Nuffield Professor of Pathology, MRC Weatherall Institute of Molecular Medicine, University of Oxford