Medicine, Nursing and Allied Health Professions


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Dr Charles Shaw-Smith

Dr Charles Shaw-Smith

Consultant in Clinical Genetics and Honorary Clinical Fellow

 +44 (0) 1392 405737



Broad research specialisms

Dr Shaw-Smith's research is in the field of Clinical Genetics, a field which, in its relatively brief history, has a good track record of rapid translation from research laboratory to clinic, exemplified by techniques such as karyotyping, fluorescence in situ hybridization (FISH), array-based comparative genomic hybridization, and most recently next-generation sequencing, with input from the Human Genome Project, completed c.2000.

Many developmental disorders of children are due to mutations in single genes or to chromosomal aneuploidy, and the detection of these genetic differences has kept clinical, molecular and cyto-geneticists busy for several decades, with much still to discover.


  • Post-registration junior hospital doctor training at Queen’s Medical Centre, Nottingham;
  • Specialist training in Gastroenterology and subsequently Clinical Genetics at Hammersmith Hospital, London;
  • West Midlands Regional Genetics Service, Birmingham;
  • East Anglian Regional Genetics Service, Addenbrooke’s Hospital, Cambridge.
  • Wellcome Trust Clinical Training Fellow, Wellcome Trust Sanger Institute, Cambridge (1995-1999).
  • Honorary Consultant and University Lecturer, Department of Medical Genetics, Cambridge (2004-2006)
  • subsequently (2006-2010) Wellcome Trust Intermediate Clinical Fellow, Wellcome Trust Sanger Institute.
  • Appointed to current post in Exeter September 2010.


Research interests

Molecular genetic aetiologies of developmental malformations in children, especially those of the gastro-intestinal tract. This work is typified by Dr Shaw-Smith's work, with collaborators at Baylor College of Medicine, Texas, USA on the role of the transcription factor gene FOXF1 in the aetiology of GI tract malformations in humans (Stankiewicz et al, 2009).

He has a long-standing interest in the application of array-based technologies to the elucidation of genetic mechanism in children with mental retardation/learning disabilityand congenital malformations (Shaw-Smith et al, 2004, 2006).

Research projects

  • Genetics of Oesophageal Atresia
    Identification of molecular aetiologies in individuals with this congenital malformation
  • Genetic aetiologies of pancreatic agenesis and neonatal diabetes
    In collaboration with Profs Sian Ellard and Andrew Hattersley
  • The role and regulation of HNF1B in man
    Supervision of MRC Clinical Training Fellow Dr Rhian Clissold, jointly with Dr Coralie Bingham and Profs Ellard and Hattersley


  • Joint PI with Dr Coralie Bingham and Prof Sian Ellard: MRC Clinical Training Fellowship to Dr Rhian Clissold (2012-2015)

External Engagement and Impact


Wellcome Trust Clinical Training Fellowship, 1995

Wellcome Trust Intermediate Clinical Fellowship, 2006


Clinical teaching responsibilities for students of University of Exeter Medical School attached to the Department of Clinical Genetics, Royal Devon and Exeter Hospital

Supervision / Group

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