Prof Robert McFarland

Professor of Paediatric Mitochondrial Medicine, Honorary Consultant Paediatric Neurologist. Director of the Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children, Newcastle University

Professor Bobby McFarland began his research career over 20 years ago in the Mitochondrial Research Group at Newcastle University where he identified a novel mitochondrial DNA mutation in a local family from the North East. Inspired by this early success, Professor McFarland’s research subsequently expanded to involve gene discovery, determinants of pathogenicity in mitochondrial disease and clinical research projects including the development of clinical assessment tools, drug trials and a mitochondrial disease cohort of >1940 individuals. As Director of the NHS Highly Specialised Service for Rare Mitochondrial Disorders, Professor McFarland leads a team of clinicians, nurses and allied health professionals dedicated to the diagnosis and management of mitochondrial disease who are enthusiastically embedding their research discoveries into clinical practice.


Prof Grainne Gorman

Senior Clinical Lecturer, Consultant Neurologist & Director of the Wellcome Centre for Mitochondrial Research, Newcastle University

Prof Grainne Gorman qualified from the Royal College of Surgeons in Ireland (RCSI) in 1997 and completed her clinical training in neurology in Dublin. She was appointed Honorary Consultant Neurologist at Newcastle upon Tyne Hospitals NHS Foundation Trust in 2010 and became Professor of Neurology in 2020. At the same time, she was appointed Director of the Wellcome Centre for Mitochondrial Research at Newcastle University. Prof Gorman established and now leads the Newcastle Mito Hub – a research group designed to build on the world-class medical science at Newcastle University. She has developed research programmes that a) investigate genotype-phenotype correlations of primary mitochondrial disorders to better understand the basic pathophysiology and b) improve diagnostic yield and identify strategic patient-centred research themes and validated outcomes. Prof Gorman has also established clinical trials in mitochondrial disease in the UK.


Dr Robert Pitceathly

Medical Research Council Clinician Scientist and Honorary Consultant Neurologist, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery

Dr Robert Pitceathly completed his preclinical and clinical medical degree at St Andrews’ and Manchester Universities before commencing his post-graduate neurology specialist training in Manchester. He subsequently undertook a PhD in mitochondrial diseases at the UCL Queen Square Institute of Neurology, before obtaining an NIHR academic clinical lecturer post in London. From March 2019 he started a Medical Research Council Clinician Scientist Fellowship with Honorary Consultant status at The National Hospital for Neurology and Neurosurgery, where he co-leads the London NHS England nationally commissioned Rare Mitochondrial Disorders Service. He leads a research group at UCL Queen Square Institute of Neurology that combines clinical observations with laboratory approaches to better understand the molecular basis and pathophysiological mechanisms of mitochondrial diseases, with the aim of developing treatments.


Dr Victoria Nesbitt

Clinical Lead for the Mitochondrial Disorders Service in Oxford, Consultant Paediatrician in Mitochondrial Diseases & Honorary Senior Clinical Lecturer in Paediatrics.

Dr Nesbitt strives to increase awareness of mitochondrial disease amongst clinicians in order to identify and diagnose children earlier allowing specialist management and genetic counselling to be instituted appropriately.


Prof Joanna Poulton

Professor and Honorary Consultant in Mitochondrial Genetics, Oxford

Professor Poulton’s data on the transmission of mitochondrial DNA (“the bottleneck”) were a breakthrough for the feasibility of mtDNA prenatal diagnosis and ultimately for the high-profile mitochondrial replacement therapy, “three parent babies”. Her current work focuses on exploiting a natural mechanism for recycling damaged mitochondria, called mitophagy, to treat mitochondrial disease.


Dr Mike Champion

Consultant in paediatric inherited metabolic diseases and clinical lead, Evelina Children's Hospital

Dr Champion studied medicine at King’s College London and then trained in children's medicine (paediatrics) before specialising in inherited metabolic diseases (IMD). He has been a consultant in metabolic medicine since 1998, and is the clinical lead for the IMD service at Evelina London Children's Hospital. He serves on the National Commissioning IMD Clinical Reference Group and the Rare Disorders Advisory Group, and is a Trustee of Evelina Children’s Fund. 


Prof Shamima Rahman

Professor of Paediatric Metabolic Medicine, UCL and Great Ormond Street Hospital

Prof Shamima Rahman (MA BMBCh PhD FRCP FRCPCH) is Professor of Paediatric Metabolic Medicine at the UCL Great Ormond Street Institute of Child Health (ICH), and a consultant at Great Ormond Street Hospital for Children, London, where she sees children affected by mitochondrial diseases. Professor Rahman established the Mitochondrial Research Group at the UCL Institute of Child Health in 2000, with a particular focus on improving the outcomes for children affected by mitochondrial and other rare metabolic diseases by discovering mitochondrial disease genes, developing novel computational diagnostic strategies, and investigating therapeutic approaches where there are currently no disease-modifying treatments. Professor Rahman is Editor in Chief of the Journal of Inherited Metabolic Disease, a Senior Editor of the Annals of Human Genetics, a member of the Medical Research Council Clinical Training Panel and acts as a special adviser to the UK’s Human Fertilisation and Embryology Authority.


Dr Andrew Schaefer

Consultant Neurologist, Wellcome Centre for Mitochondrial Research, Newcastle University

Dr Andrew Shaefer is a consultant neurologist specialising in neurogenetics, and has been associated with The Newcastle Mitochondrial Centre since 2001. Together with three consultant colleagues and support from our multidisciplinary team he helps run the Newcastle Mitochondrial Clinic and the clinical service for patients. Research interests include the natural history of the mitochondrial disorders, phenotype-genotype correlations and determining best clinical practice. Dr Schaefer has published on the prevalence of the mitochondrial disorders, and is the clinical lead on the development of best practice guidelines in mitochondrial disease.


Prof Robert Taylor

Professor of Mitochondrial Pathology at the Wellcome Centre for Mitochondrial Research, Newcastle University

Professor Taylor leads a team focussing on mitochondrial gene discovery, molecular diagnostics and the characterisation of mitochondrial genetic disease mechanisms. His research centres on genotype-phenotype correlations in mitochondrial disease pathology, identifying and functionally-characterising more than 30 novel mitochondrial disease genes. He has published over 500 peer-reviewed scientific papers.

His academic research is underpinned by roles within the NHS. Rob is the Head of the UKAS-accredited NHS mitochondrial laboratory in Newcastle which continues to provide Specialised Mitochondrial genetics services for the North and East of England following national genomics reconfiguration. Regionally and nationally, he brings scientific leadership to genomics through his role as Scientific Director of the Yorkshire and North East Genomic Laboratory Hub, co-Chair of the Rare Disease Genomic Test Evaluation working group and as Chair of the Association of Clinical Genomic Science.


Prof Mike Hanna

Professor in Clinical Neurology & Director of the UCL Institute of Neurology

Professor Michael Hanna is Director of the MRC Centre for Translational Research in Neuromuscular Disease. He leads an active research programme and has published 200+ peer reviewed original research papers including New England Journal of Medicine and Lancet. Professor Hanna is committed to developing better services for patients and runs two nationally commissioned services for mitochondrial disease and for neurological channelopathies.