UCL  IRIS
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
Dr Erwin Pauws
Appointment
  • Lecturer
  • ICH Development Bio & Cancer Prog
  • UCL GOS Institute of Child Health
  • Faculty of Pop Health Sciences
Research Summary

Normal craniofacial development is a precisely coordinated process involving the modelling of a framework supporting the tissues of the head, in particular the brain. Craniosynostosis, a common birth defect with an incidence of 1:2500, is characterised by the premature fusion of cranial sutures that disturbs this natural framework. This results in dramatic dysmorphology of the skull and face, sometimes accompanied by several additional functional abnormalities. Clinical and genetic studies have identified multiple forms of human craniosynostosis, and many are associated with mutations within FGF-related signalling pathways. Crouzon syndrome is a form of coronal craniosynostosis and midfacial hypoplasia without malformations in the extremities. Crouzon syndrome makes up to 4.5% of all craniosynostosis patients and mutations in the FGFR2 gene have been shown to be causative. Other syndromes associated with mutations in FGFR2 (Pfeiffer, Jackson-Weiss and Antley-Bixler) are considered to be part of the phenotypic spectrum of Crouzon-like syndromes.
Research into this debilitating disease is carried out at the Institute of Child Health, in close collaboration with Great Ormond Street Hospital, as part of a wider research program into craniofacial birth defects.
The main aims of this research are to:
* Improve the molecular diagnosis of Crouzon-like syndromes.
* Expand the fundamental knowledge on how impaired FGF signaling contributes to craniofacial birth defects.
* Translate novel findings into relevant, clinical treatment strategies to enhance or replace current approaches for the treatment of craniosynostosis syndromes.

Teaching Summary

Research student supervision at PhD level, together with supervision of laboratory and library projects for MSc, MRes and BSc students at UCL and beyond.

Lecturing at post-graduate level, at UCL and beyond.

Academic Background
2010 PGCLTHE Postgraduate Certificate in Learning and Teaching in Higher Education – Education - Postgraduate University College London
2003 PhD Doctor of Philosophy – Medicine Universiteit van Amsterdam
1994 BSc Bachelor of Science – Biochemistry Universiteit van Amsterdam
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