Speakers

Emma is Professor of Genomic Medicine at the University of Exeter, a Consultant Clinical Geneticist at the Royal Devon University Healthcare NHS Foundation Trust, Medical Director for the South West Genomic Laboratory Hub and Medical Lead for the National Rapid Genome Sequencing Service for Acutely Unwell Children. Emma is also co-chair of the NHSE Rare Disease Test Evaluation Working Group. Between 2015-2020 Emma was the Clinical Lead for Rare Disease Validation and Feedback at Genomics England. Her principal 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 main area of research involves the investigation of the molecular causes of inherited disorders within underrepresented populations, stemming from the identification of the causal disease gene through to more detailed studies of the biological pathway and disease mechanism responsible.