Professor Emma Baple

About me:

Emma is Professor of Genomic Medicine. Emma leads the Rare Disease Research group at the University of Exeter College of Medicine and Health, alongside Professor Andrew Crosby with whom she works closely. 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.

Over the last 6 years Emma's research has focussed on the investigation of the genetic and molecular basis of inherited conditions. She is recognised internationally for her research to define the molecular causes of neurodevelopmental and degenerative disorders. Important 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. These genetic discoveries have provided important insights into new disease mechanisms.

Many of the patients and families involved in this research form part of long-running community clinical-genetic research programmes, in particular amongst the Amish populations of the USA undertaken in close collaboration with Professor Andrew Crosby. The UK research team undertake these studies in close partnership with local clinicians, special education teachers and other healthcare workers who provide care and support for Amish and other Anabaptist families locally. As well as empowering diagnostic services in the region, their genetic studies provide the scientific insight important for the development and investigation of new therapeutic approaches for conditions which occur in the community.

If you would like learn more about this work, then please register for our Medical Research Foundation funded FutureLearn Massive Open Online Course, Genomic Medicine and Research: A Community Approach

https://www.futurelearn.com/courses/community-genetics

• BSc Hons (Human Genetics, UCL, London)
• MBBS (St Bartholomew’s and the Royal London School of Medicine and Dentistry)
• MRCPCH (Royal College of Paediatrics and Child Health)
• PhD (University of Exeter Medical School)
• Specialist register (CCT) Clinical Genetics

Emma attended medical school at St Bartholomew’s and the Royal London School of Medicine and Dentistry. While at medical school, she completed an intercalated BSc in Human Genetics at University College London and the Institute of Child Health before training in Paediatrics in East London and subsequently Clinical Genetics at St George’s Hospital, Great Ormond Street Hospital for Children and in Exeter. During her training in Clinical Genetics, she obtained an MRC Clinical Research Training Fellowship and studied for a PhD in Molecular and Clinical Genetics at the University of Exeter.