Emma is a joint lead for our Genetics & Genomics research. She is Professor of Genomic Medicine and leads the Rare Disease Research group at the University of Exeter College of Medicine and Health, alongside Professor Andrew Crosby.

Her principle area of interest is in the use of new genetic technologies to identify the cause of rare genetic disorders and the translation of that knowledge into improved clinical diagnostic testing and treatment strategies. Emma’s principal area of research involves the investigation of the molecular causes of inherited disorders within a community setting, stemming from the identification of the causal disease gene through to more detailed studies of the biological pathway and disease mechanism responsible.

Emma is also the Medical Director of the NHS South West Genomic Laboratory Hub (a partnership between the Exeter and Bristol Genomic Laboratories) and the Deputy Clinical Director of the South West Genomic Medicine Service Alliance.

Between 2015-2020 Emma was Clinical Lead for Rare Disease Validation and Feedback at Genomics England.