The service provides clinical and laboratory services for a population of around 2 million people in Devon and Cornwall, South West England.
Dr Shaw-Smith sees patients and families with disorders which span the full range of those seen in Clinical Genetics, including:
- Individuals at risk of heritable forms of cancer, such as breast cancer due to faults in the BRCA1 and BRCA2 genes, and bowel cancer due to hereditary predisposition, for example as part of Lynch syndrome
- Individuals at risk of heritable neurological, cardiac and renal disorders
- Individuals at risk of disorders of the skeletal system such as Marfan syndrome, Ehlers Danlos syndrome and Osteogenesis Imperfecta
- Children with a diagnosis of learning disability or of a developmental disorder of childhood
Since moving to Exeter in 2010, Dr Shaw-Smith has developed an interest in the genetics of kidney disease. In 2012, he set up a clinic which is jointly staffed by a Clincal Geneticst (CSS) together with Dr Coralie Bingham, Consultant Nephrologist. The clinic runs four times per year in Exeter. Patients with known or suspected genetic disorders of the kidney and urinary tract are seen in this clinic.
Before moving to Exeter in 2010, Dr Shaw-Smith was Honorary Consultant at the East Anglia Regional Genetics service based at Addenbrooke’s Hospital in Cambridge, and University Lecturer in Medical Genetics in the University of Cambridge. He previously held training posts in Clinical Genetics in Cambridge and Birmingham.
Dr Shaw-Smith has a strong background in research having held Training and Intermediate level Fellowships funded by the Wellcome Trust. Further information about his research is available here.
Dr Shaw-Smith previously served as lead for Rare Disease in the SouthWest Genomic Medicine Centre for the 100,000 Genomes Project.
Dr Shaw-Smith is IT lead for the Peninsula Regional Genetics Service and has a background in innovation. More recently, he has been closely involved in implementation of electronic patient records and Voice Recognition software at the Royal Devon and Exeter Hospital. Relevant issues are discussed in a blog, available here, with occasional posts covering all aspects of IT in Clinical Genetics.Download Dr Shaw-Smith’s CV (PDF)