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UCL Great Ormond Street Institute of Child Health

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Prof Philip Stanier

Prof Philip Stanier

Address

Institute of Child Health UCL
30 Guildford Street
London
WC1N 1EH

Appointments

  • Professor of Craniofacial Developmental Biology and Genetics
    ICH Genetics & Genomic Medicine Prog
    UCL GOS Institute of Child Health

Joined UCL

2006-01-01

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.
Award year Qualification Institution
1990 PhD
Doctor of Philosophy
Molecular Genetics
St Mary's Hospital Medical School
1985 BSc
Bachelor of Science
Applied Biology
Bristol Polytechnic

Keywords

Bioinformatic analysis|*|Cell culture|*|Cross-sectional and cohort studies|*|Gene expression profiling - tissue level|*|Genetic screens|*|Genetically encoded reporters/indicators|*|Genetics|*|Genomic analyses|*|Image analysis|*|Linkage, mapping and positional cloning|*|Microarrays|*|Molecular and Genetic analysis of birth defects|*|Molecular imaging|*|Neurogenesis|*|Spina bifida|*|Spinal cord|*|Transgenic mice|*|cleft lip|*|cleft palate

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