Caroline is a joint lead of our Genetics and Genomics research. She trained in Natural Sciences at the University of Cambridge, where she obtained an MA, MSci and PhD specialising in biological chemistry. She joined the University of Exeter as a Senior Lecturer in 2017 and was promoted to a personal chair in genomic medicine in 2020.

Her main research interests are in the use of genome-wide sequencing technologies for the diagnosis of rare diseases, particularly developmental disorders. She is interested in understanding the penetrance of rare disease-causing variants, improving variant filtering and interpretation, modelling the effect of missense variants using in silico protein structural analysis, and exploring the policy and ethical issues associated with implementation of genome-wide sequencing in healthcare.

Caroline leads the Enhanced Interpretation Genomics England Clinical Interpretation Partnership (GeCIP), and was previously seconded part-time to Genomics England as scientific lead for validation and feedback in the early stages of the UK 100,000 genomes project. She previously worked at the Wellcome Sanger Institute in Cambridge, where she remains a visiting scientist and part of the management committee for the UK Deciphering Developmental Disorders Study and translational lead for DECIPHER. Prior to that, she was Head of Science at the PHG Foundation in Cambridge.