Overview

Sian is a Professor Emerita of the College of Medicine and Health.  She was formerly Professor of Genomic Medicine at the University of Exeter Medical School, Scientific Director for the South West NHS Genomic Laboratory Hub and Consultant Clinical Scientist Lead for the Genomics Laboratory at the Royal Devon and Exeter NHS Foundation Trust. She came to Exeter in 1995 to set up a Molecular Genetics Laboratory providing a core facility for integrated research and diagnostic genetic testing. The laboratory receives samples from >100 countries throughout the world and is acclaimed for both its research into monogenic disorders and the translation of its research discoveries into diagnostic service. The Exeter Genomics Laboratory is the national provider for the award-winning Rapid Exome Sequencing service for acutely ill babies and children; the first commissioned test for the new NHS Genomic Medicine Service in England.  Sian was awarded an OBE in 2018 for services to patient care. She has continued to pursue her research and clinical service implementation work on a part-time basis since May 2021.

Research interests include monogenic diabetes (with Professor Andrew Hattersley), congenital hyperinsulinism and applying next generation sequencing technology for disease gene discovery and improved diagnostic tests. 

Qualifications

FRCPath

PhD Genetic Toxicology (University of Wales, Swansea)

BSc Biological Sciences (University of Portsmouth)

Research group links

• Institute of Biomedical and Clinical Science
• Diabetes, cardiovascular risk and ageing