Mutations in malformation and disease

Professor Wilkie's research focuses on the mutational processes that cause malformation and disease. By employing high-throughput DNA sequencing, it is now possible to obtain an unbiased inventory of mutations relevant to serious human diseases. Using this information, Professor Wilkie aims to investigate two different but complementary disease areas, in both of which the contributions of single gene mutations are well-established but the inventory of mutations is incomplete. These are craniosynostosis, which is the premature fusion of the cranial sutures, and mutations enriched in normal testes and sperm. One overall goal is to identify all monogenic causes of craniosynostosis, which cause the disease in about one quarter of affected individuals. In addition, pathogenic mutations in sperm will be explored through a novel disease process, termed selfish spermatogonial selection, which has been delineated in Professor Wilkie's laboratory. This will enable the identification of the molecular pathways in the testis that are vulnerable to this process.