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Emma Baple
Emma is Professor of Genomic Medicine at the University of Exeter where she leads the Rare Disease research group. Emma is also a Consultant Clinical Geneticist at the Royal Devon University Healthcare NHS Trust, Senior Responsible Officer for the Rare and Inherited Disease NHS Genomic Network of Excellence, South West Genomic Laboratory Hub Medical Director, Medical Lead for the NHS National Rapid Genome Sequencing Service for Acutely Unwell Children in England, the NHSE National Speciality Advisor for Genomics and the Exeter NIHR BRC Genetics and Genomics co-theme lead.
Her principal areas of academic interest involve:
(i) the reduction of genomic healthcare inequalities faced by under-represented populations, and (ii) the use of new and emerging genomic technologies, analytical and functional genomic approaches to identify the causes of rare genetic conditions and the translation of that knowledge into improved and equitable clinical diagnostic testing, treatment strategies and healthcare outcomes.
Sessions
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Evaluating Constellation: Insights into NHS Paediatric Acute Care Pathways.28-Jan-2026Main Stage
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Raising the Bar in Rare Disease: Networks of Excellence, New Technologies and New Standards28-Jan-2026Genomic Medicine Stage