Caroline Wright, Professor in Genomic Medicine at the University of Exeter, is a leading UK figure in the application of genomic sequencing to the diagnosis of rare disease. She uses her foundational molecular knowledge to apply scientific rigour to the entire diagnostic pipeline.
She is a key player in the Deciphering Developmental Disorders study, the first large-scale genome-wide sequencing study in the UK to return results to patients. This study was the first to demonstrate the feasibility of running a large-scale genomics project for the NHS with a pathway returning diagnostic findings to individual patients.
She has developed new paradigms for analysis with wide-reaching impact on policy and on professional guidelines for predictive genetic testing.