Professor at the University of Exeter
Professor Emma Baple is professor of genomic medicine at the University of Exeter, consultant clinical geneticist at the Royal Devon University Healthcare NHS Foundation Trust, medical director of the South West Genomic Laboratory Hub, clinical director of the South West Genomic Medicine Service Alliance and co-chair of the NHS England Rare Disease Test Evaluation Working Group. Her principal area of interest is in the use of new and emerging genomic technologies to identify the cause of rare genetic disorders and the translation of that knowledge into improved clinical diagnostic testing and treatment strategies.
A Position Statement has been published to describe best practice for ensuring consistent delivery of genomic testing for rare diseases...
The gap between discovering genomic contributions to diseases and testing an individual’s genome for personal, actionable, information about health is wider than the current discourse on genomics might suggest...
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