Institutional Research Information Service
UCL Logo
Please report any queries concerning the funding data grouped in the sections named "Externally Awarded" or "Internally Disbursed" (shown on the profile page) to your Research Finance Administrator. Your can find your Research Finance Administrator at http://www.ucl.ac.uk/finance/research/post_award/post_award_contacts.php by entering your department
Please report any queries concerning the student data shown on the profile page to:

Email: portico-services@ucl.ac.uk

Help Desk: http://www.ucl.ac.uk/ras/portico/helpdesk
 More search options
Prof Philip Stanier
Institute of Child Health UCL
30 Guildford Street
  • Professor of Craniofacial Developmental Biology and Genetics
  • Genetics & Genomic Medicine Dept
  • UCL GOS Institute of Child Health
  • Faculty of Pop Health Sciences
UCL Principal Supervisor
Research Summary

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.

Academic Background
1990   Doctor of Philosophy St Mary's Hospital Medical School
1985   Bachelor of Science Bristol Polytechnic
Please report any queries concerning the data shown on this page to https://www.ucl.ac.uk/hr/helpdesk/helpdesk_web_form.php
University College London - Gower Street - London - WC1E 6BT Tel:+44 (0)20 7679 2000

© UCL 1999–2011

Search by