Professor Andrew Wilkie FMedSci FRS
Nuffield Professor of Pathology, Weatherall Institute of Molecular Medicine, University of Oxford
Andrew Wilkie is distinguished for his seminal contributions to our understanding of the mechanisms underlying human congenital disorders, particularly those affecting the skeletal system. His studies have gone well beyond identifying mutated genes but have also led to novel genetic principles. Particularly noteworthy, have been studies that started with Wilkie's demonstration that mutations in the fibroblast growth factor 2 receptor gene lead to Apert syndrome. Wilkie showed that these mutations arise at surprisingly high frequencies, leading to his elegant demonstration that particular mutations can promote the enrichment of mutant spermatogonia. Furthermore, the same mutations arise in testicular tumours, thus linking the process of somatic and germline mutation in the same cell. Wilkie has also made major contributions to the role of telomere dynamics in congenital anomalies. Many of his findings have led to the development of diagnostic tests in clinical use today.