Craniofacial Malformations Research Group

We work on the pathogenesis of human mutation using genetic mouse models, in particular those affecting genes in the FGF signalling pathway with a role in bone development and homeostasis. Our main aim is to unravel the molecular events that underlie craniofacial birth defects at the cellular level in order to develop new therapies. Ultimately the hope is that a better understanding of the pathogenesis of these congenital anomalies will translate to improved diagnosis, prognosis and treatment.

Research Projects

Pathogenesis of FGF-related syndromic craniosynostosis 

Many syndromic forms of craniosynostosis are caused by mutations in genes part of the FGF signalling pathway. In our lab we focus on the FGF receptors and study the effects of mutation of FGFR2 one of the receptor genes. Previous work has shown that FGFR2 is involved in the early pattering of the coronal suture as well as the osteogenesis of neural crest derived calvarial bones.

Calvarial loading as a treatment for craniosynostosis

This study aims to investigate how external loading of the calvarial bones can delay or prevent the onset and/or progression of craniosynostosis. In addition to the potential translation of this study into clinical treatment we are interested in the cellular and molecular events downstream of calvarial bone mechanotransduction to further understand the underlying mechanism. 

Pathogenesis of FGF-related cleft palate

This project -in collaboration with Prof Stanier- explores the relationship between FGF signalling and the embryonic development of the palate. The role of TBX22 -one of the many cleft genes- is also part of this investigation.