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UCL Great Ormond Street Institute of Child Health

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Dr Erwin Pauws

Dr Erwin Pauws

Lecturer

Developmental Biology & Cancer Dept

UCL GOS Institute of Child Health

Joined UCL
1st Aug 2006

Research summary

The research in my lab aims to identify the underlying, causative molecular and cellular mechanisms of common craniofacial birth defects, with a particular interest in cleft palate and craniosynostosis. We work on the pathogenesis of human mutation using genetic mouse models, in particular those affecting genes in the FGF signalling pathway with a role in bone development and homeostasis. Our main aim is to unravel the molecular events that underlie craniofacial birth defects at the cellular level in order to develop new therapies. Ultimately the hope is that a better understanding of the pathogenesis of these congenital anomalies will translate to improved diagnosis, prognosis and treatment.

The research is currently funded by grants from the Great Ormond Street Hospital Children’s Charity and the Newlife Charity for Disabled Children.

I have published over 35 papers and review articles. My H-index is 20 (Researchgate, 2018).

Teaching summary

Module lead for UCL under- and postgraduate teaching:

  • "Molecular Biology of Normal Development and Birth Defects"

  • "Genomics, Health and Society"

  • "Birth Defects: Basic Research and Clinical Applications"

Lecturing at under- and postgraduate level:

  • BSc Biomedical Sciences, UCL

  • BSc Population Health, UCL

  • MBBS, UCL
  • MSc Paediatrics and Child Health, UCL

  • MSc Cell and Gene Therapy, UCL

  • MSc Reproductive and Developmental Biology, Imperial College

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

Education

University College London
Other Postgraduate qualification (including professional), Postgraduate Certificate in Learning and Teaching in Higher Education | 2010
Universiteit van Amsterdam
Doctorate, Doctor of Philosophy | 2003
Universiteit van Amsterdam
First Degree, Bachelor of Science | 1994

Biography

I began my scientific career as a BSc student in Jan de Vijlder’s laboratory for Pediatric Endocrinology at the University of Amsterdam. Under his guidance and the daily supervision of Carrie Ris-Stalpers, I was introduced to the world of human genetics, in particular in relation to congenital hypothyroidism.
After graduating, I decided to stay with the lab and pursue a PhD. With the support of Tom Voute and Frank Baas I started a PhD project on the molecular genetics of thyroid cancer. This research resulted in the identification of novel markers for specific sub-types of thyroid tumours and gave me a glimpse into the potential for clinical translation of basic research, which would become a common theme throughout my career.
After completing my PhD in Amsterdam, I took up a position in Phil Stanier’s lab at Imperial College London to study the role of TBX22 in cleft palate. This project introduced me to mouse transgenics and the appreciation of how transgenic mouse models of human disease can be used to understand the underlying mechanisms of developmental anomalies.
When I started my own lab in 2009, I was able to expand my research on craniofacial birth defects while keeping close collaborations in the field of craniofacial biology. While my interest in cleft palate continues, the main focus is now on craniosynostosis, a common birth defect that affects normal growth of the skull. Being a member of the Birth Defects Research Centre at the UCL Great Ormond Street Institute of Child Health allows me to collaborate closely with basic scientists and clinicians alike with the aim to improve the lives of patients with craniosynostosis.

Publications