Professor Wilkie studies rare genetic disorders, such as Apert syndrome, which cause malformations in the skeletal system, particularly in the skull. He is also interested in the underlying general principles of disease – for example which molecular pathways are involved, and why characteristic patterns of mutation arise.
- Applications of genome sequencing in the study of human disease
- Genes affecting skull development especially craniosynostosis
- Effects of ageing on mutation, with reference to the sperm of older fathers
Professor Wilkie has experience of working with the media and in 2011 took part in 2011 BBC2 series Children's Craniofacial Surgery in the episode entitled Rogue Gene.