Andrew Wilkie

Andrew Wilkie is the Nuffield Professor of Pathology at the University of Oxford and an Honorary Consultant in Clinical Genetics. He is based at the MRC Weatherall Institute of Molecular Medicine and leads the Wilkie Group focused on clinical genetics and craniofacial malformations. His work bridges fundamental research with clinical applications, particularly in the field of craniosynostosis and related conditions. He serves as Co-Theme Leader for Genomic Medicine at the NIHR Oxford Biomedical Research Centre and is an Associate Editor for PLoS Genetics.

Wilkie's primary research interest lies in craniofacial malformations, especially craniosynostosis (premature fusion of cranial sutures). His groundbreaking 1995 discovery identified specific FGFR2 mutations as the cause of Apert syndrome, which led to two major research themes: discovering other genetic causes of craniosynostosis and investigating why certain mutations occur with unexpectedly high frequency. This work evolved into the recognition of 'selfish spermatogonial selection,' a novel process in testes that links germline and somatic mutation origins. Current research leverages next-generation sequencing to identify new genetic causes of craniosynostosis and explores the mechanisms by which stem cell populations maintain cranial sutures.

His publication record demonstrates consistent contributions to understanding craniosynostosis genetics, with recent work focusing on novel gene discoveries (such as MEGF8, ERF, TCF12, ZIC1, CDC45, and SMO), regulatory element mapping, and the application of whole genome sequencing in clinical diagnostics. The research spans molecular genetics, developmental biology, and clinical applications, with increasing emphasis on understanding the complex pathways underlying craniofacial development and malformation.

• Fellow of the Academy of Medical Sciences (FMedSci)
• Fellow of the Royal Society (FRS)

Wilkie leads a research team including Associate Professor Stephen Twigg, DPhil candidates, and postdoctoral researchers. His lab collaborates extensively with clinical units across the UK and internationally, including craniofacial teams at Oxford University Hospitals, Great Ormond Street Hospital, and institutions in the Netherlands and USA. Funding comes from major sources including the Wellcome Trust, NIHR Oxford Biomedical Research Centre, NIH, and Action Medical Research. His work has translated numerous genetic discoveries into NHS diagnostic testing, directly impacting patient care through improved genetic diagnoses.

The Wilkie Lab maintains strong connections with clinical genetics services and focuses on both fundamental mechanisms of cranial suture development and direct clinical applications. The team uses mouse models (including CRISPR-Cas9 genome editing), single-cell analysis, and human genomic data to understand suture biology. They're part of the 100,000 Genomes Project and work closely with the NIHR Oxford BRC Genomic Medicine theme to implement genomic technologies in healthcare.