About
Professor Emma Baple is Professor of Genomic Medicine at the University of Exeter College of Medicine and Health, leading the Rare Disease Research group alongside Professor Andrew Crosby. She serves as Medical Director of the NHS South West Genomic Laboratory Hub and Deputy Clinical Director of the South West Genomic Medicine Service Alliance, with prior role as Clinical Lead for Rare Disease Validation at Genomics England (2015-2020).
Her qualifications:
- 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 in Molecular and Clinical Genetics, University of Exeter (awarded MRC Clinical Research Training Fellowship)
- Specialist Register (CCT) in Clinical Genetics
Emma's research pioneers genomic technologies to identify molecular causes of rare inherited disorders, with international recognition for neurodevelopmental/degnerative disease mechanisms. Her community-focused approach—particularly with Amish populations in the USA—integrates genetic discovery with clinical diagnostics through partnerships with local clinicians and educators. Key breakthroughs include delineating PRUNE-associated tubulinopathy and PCNA-related DNA repair disorders, driving therapeutic development.
She leads the Medical Research Foundation-funded FutureLearn MOOC 'Genomic Medicine and Research: A Community Approach', emphasizing community-engaged translation of genomic research into clinical practice.
