I began my research career in March 2000 on a 1-year Entry Level Wellcome Clinical Training Fellowship under the supervision of Prof Doug Turnbull and Prof Bob Lightowlers. I was a junior doctor at the time having studied Medicine at Oxford (BA, 1990) and London (MBBS, 1993) and had moved from London to Newcastle for a specialist registrar training programme in 1997. I interrupted that training to undertake a period of laboratory research on a severe and puzzling clinical disease affecting a local family. The first year went very well with a publication in Nature Genetics, some answers for the family and an extension of the Wellcome Training Fellowship to a full 3 years. Subsequently, aided by a Medical Research Council Clinician Scientist Fellowship, I was able to continue my clinical training in paediatric neurology and simultaneously develop my research interest in the molecular and clinical consequences of mutations in mitochondrial DNA.
I completed my higher specialist training in paediatric neurology in 2006 and was appointed honorary consultant paediatric neurologist at the NUTH NHS Foundation Trust in the same year. This position allowed me to develop a paediatric mitochondrial disease service in Newcastle which, in turn, helped ensure a comprehensive and successful bid for the NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children in 2007; an award that has since underpinned the success of clinical research of mitochondrial disease in Newcastle. In 2008 I secured 5 years of funding with a HEFCE/DoH Clinical Senior Lectureship and tenure with Newcastle University in 2013. I was promoted to Professor of Paediatric Mitochondrial Medicine in 2017.
My early research interests have grown to include the identification of mitochondrial and nuclear genetic defects causing disease in children, factors determining the pathogenicity of mitochondrial DNA mutations and numerous clinical research projects. The latter has specifically involved the development of clinical assessment tools (NMDAS and NPMDS), drug trials, development of a living cohort of ~1800 individuals (MitoCohort UK) with confirmed mitochondrial disease and more recently as an education lead for the MRC International Centre for Genomic Medicine in Neuromuscular Disease project.
The legal framework for Mitochondrial Donation (MD) was established with the parliamentary legislation ratified in 2016, but realising MD for couples was a ‘First in Man’ service and the NHS required a research component. I successfully applied to Wellcome for funding to assess the neurodevelopmental outcome of children born following MD and now run a combined clinic with Dr Jane Stewart (clinical fertility specialist) offering this MD service.
Awards, Honours and Professional service
1990 BA University of Oxford
1993 MBBS University of London
2007 PhD University of Newcastle upon Tyne
1996 MRCP (UK) Royal College of Physicians
1997 MRCPCH Royal College of Paediatrics and Child Health
2000 Wellcome Clinical Research Training Fellowship
2003 Medical Research Council Clinician Scientist Fellowship
2008 Dept. of Health / Higher Education Funding Council for England: Clinical Senior Lecturer Award
2007 British Paediatric Neurology Association ‘MacKeith Prize’
Membership of Professional Societies
1996 Royal College of Physicians
1997 Royal College of Paediatrics and Child Health
2004 British Paediatric Neurology Association
2010 British Myology Society