My research group studies the genetic and molecular basis of developmental disorders. A major goal is to better understand the cause of common birth defects affecting the neural tube or craniofacial development, with a view to providing accurate diagnosis and better treatment options. Our investigation of mouse models with neural tube defects (NTD) led to the discovery that the planar cell polarity pathway (PCP) plays an important role in normal neural tube closure. Current projects aim to uncover further novel genes and mechanisms leading to human NTD predisposition. Associated with this, we are also investigating the mechanism through which preconceptual folic acid fortification can prevent NTDs. Following the identification of mutations in the transcription factor TBX22 as the cause of X-linked cleft palate (CPX), we have continued in a long-term programme to study the genetics and cellular mechanisms underlying different forms of orofacial clefts.

Recent studies identified the molecular basis of Lenz-Majewski syndrome (PTDSS1: de novo dominant gain of function mutations) and the autosomal recessive cerebellar ataxia, SCAR20 (loss of function mutations in SNX14). We are now developing our understanding of the biochemical mechanisms involved through cell and animal studies. Other long-term interests include elucidation of genetic and epigenetic factors affecting fetal growth and other complications of pregnancy.