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UCL Great Ormond Street Institute of Child Health

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Prof Philip Stanier

Prof Philip Stanier

Professor of Craniofacial Developmental Biology and Genetics

ICH Genetics & Genomic Medicine Prog

UCL GOS Institute of Child Health

Joined UCL
1st Jan 2006

Research summary

My research interests are focussed around identifying the genetic and molecular basis of common birth defects, particularly those affecting neural tube or craniofacial development. Our investigation of mouse models with severe neural tube defects (NTD) led to the discovery that the planar cell polarity pathway (PCP), first described in Drosophila, plays an essential role of in normal and abnormal neural tube development. Current research is investigating PCP genes for their role in human NTD. In addition, we are investigating the contribution of inborn errors of folate metabolism in cohorts of patients with open neural tubes (e.g. spina bifida aperta, anencephaly and craniorachischisis), as well as closed defects (spina bifida occulta). My lab also studies the genetics and cellular mechanism underlying cleft lip and/or palate, with a particular interest in X-linked cleft palate caused by mutations in the transcription factor TBX22.

Education

St Mary's Hospital Medical School
PhD, Molecular Genetics | 1990
Bristol Polytechnic
BSc, Applied Biology | 1985
Publications