Emma Baple

Clinical Lead
Rare Disease Validation and Feedback
Genomics England
United Kingdom

Biography

Dr Emma Baple is Clinical Lead for Rare Disease Validation and Feedback at Genomics England.  She is also a Consultant Clinical Geneticist at the Royal Devon and Exeter Hospital and a Senior Lecturer in Genomic Medicine at the University of Exeter.

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.   She will be talking about “100,000 Genome Project Rare Disease Programme”.

Emma also works closely with Prof Andrew Crosby in Exeter, their main 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.  Recent examples include: the delineation of a new autosomal recessive tubulinopathy associated with PRUNE mutation and the identification of a hypomorphic mutation of PCNA that underlies a novel autosomal recessive DNA repair disorder.