Professor of Neurology, University of Newcastle upon Tyne (1990-present)
Honorary Consultant Neurologist, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne
Director Wellcome Centre for Mitochondrial Research
I began my research as a junior doctor when I became interested in why a patient developed muscle pain on exercise. This led me to start my studies on mitochondria and disease which have continued to fascinate me to this day. My PhD studies focused on understanding the molecular mechanisms in mitochondrial disease “Mitochondrial Cytopathies: Clinical and Experimental Studies”. At the same time I completed an MD which focused on the anticonvulsant drug sodium valproate but I was particularly interested in the toxicity of sodium valproate which involves mitochondria “Sodium Valproate: Clinical and Biochemical Studies”.
On completion of my research degrees I became a Lecturer in Experimental Neurology and continued my research into mitochondrial disease. In 1990 I became Professor of Neurology at Newcastle University and this allowed me to develop my clinical and molecular studies of mitochondrial disease. One of the great strengths of working in the UK is the ability to link clinical studies to basic research and this highlight my main research interest and expertise. Building upon research which started over two decades ago we have been able to build the Wellcome Centre for Mitochondrial Research along with a world class clinical service for patients.
Director, Wellcome Centre for Mitochondrial Research
This was a strategic award from the Trust and was officially opened in September 2012 by Sir Mark Walport. The Centre funding was renewed for five years in 2017. I am the Director of the Centre. The Centre focuses on transforming the lives of patients with mitochondrial disease. To achieve these strategic aims we are integrating basic and clinical research, training exceptional young researchers and addressing the public and policy engagement issues around our research. There are three research themes in the Centre: understanding clinical mitochondrial disease; understanding the genetic mechanisms underlying mitochondrial; preventing and treating mitochondrial disease.
Until this year, I was the national lead for the NHS National Highly Specialised Services for Rare Mitochondrial Diseases of Children and Adults
This service is for all patients with mitochondrial disease in the UK. The service was originally designated in April 2007 and involves 3 centres (Newcastle, London and Oxford). The service provides diagnostic investigations for patients suspected of mitochondrial disease which includes biochemical, histochemical and molecular genetic studies. We provide a multidisciplinary clinical service for our patients including medical, specialist nurse, physiotherapy, speech and language therapy and welfare rights. The clinic is accessible for all patients and those unable to travel we have telephone and skype clinics. This service is unique internationally and highlights one of the great strengths of the NHS, the ability to focus on the best of care for all. The service also provides a wonderful opportunity to combine with clinical research since we have large cohorts of patients and the vast majority of them delighted to consent for research studies. We have a number of clinical research studies on-going using interventions such as exercise.