Key Investigators
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DAVID BEESON, Nuffield Department of Clinical Neurosciences
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DAVID BENNETT, Nuffield Department of Clinical Neurosciences David is Professor of neurology and neurobiology, a senior Wellcome clinical scientist in the Nuffield Department of Clinical Neuroscience at the University of Oxford and honorary consultant neurologist. His sub-specialty interest is peripheral neuropathy and neuropathic pain; he administers the neuropathy and pain channelopathy clinic at Oxford University Hospitals. His research interest is nerve injury/repair and neuropathic pain. He leads DOLORisk, an EU-based consortium investigating risk factors and determinants of neuropathic pain. |
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STEFEN BRADY, OUH-FT Neurology Service Stefen Brady studied medicine at Trinity College Medical School in Dublin. He trained in muscle diseases with Dr David Hilton-Jones at the John Radcliffe Hospital in Oxford and with Prof. Mike Hanna at MRC Centre for Neuromuscular Diseases in London. He was awarded a DPhil by the University of Oxford for his thesis, A Clinicopathological Study of Inclusion Body Myositis (IBM), in 2014. Dr Brady has worked as a Specialist Neuromuscular Consultant since 2016. |
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KAY DAVIES, Department of Physiology, Anatomy and Genetics Kay is Dr Lee’s Professor of Anatomy at the University of Oxford and directs the MRC Functional Genomics Unit. Kay’s work has paved the way for the use of mini dystrophin AAV gene delivery, contributed to exon-skipping therapy approaches and identified the dystrophin-related protein, utrophin targeted to prevent pathology. She co-founded Summit Therapeutics (antibiotics bio-tech), is a founding fellow of the UK Academy of Medical Sciences and is a Fellow of the Royal Society. Kay is Dame Commander of the British Empire for services to science. |
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YIN YAO DONG, Nuffield Department of Clinical Neurosciences Dr Yin Yao Dong is a MRC Career Development Fellow at the Nuffield Department of Clinical Neuroscience. His research is focused on understanding why abnormalities in the ubiquitous process of protein N-glycosylation, can lead to congenital myasthenic syndromes, and the specific dysfunction of the neuromuscular junction. To do so, he leads a multidisciplined collaboration using methods in biochemistry, structural biology, molecular biology and glycomics. |
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M ISABEL LEITE, Nuffield Department of Clinical Neurosciences M Isabel Leite graduated in Medicine from the University of Porto, Portugal, and gained her DPhil at the University of Oxford in 2008. Since then, she has developed her clinical and research career on Autoimmune Neurology, within the Nuffield Department of Clinical Neurosciences. While her clinical expertise, research interest and educational activities are broad and cover autoimmune diseases of central and peripheral nervous system, her main focus is on autoimmune disorders of the neuromuscular junction, in particular myasthenia gravis and Lambert-Eaton myasthenic syndrome, including those associated with malignancy (e.g. thymoma and lung cancer) as well as associated with immunotherapies. She is principal investigator in several research projects and has been awarded research grants, including from Myaware and Muscular Dystrophy UK. She was made Associate Professor of Neurology in 2019. |
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VICTORIA NESBITT, NHS Highly Specialised Services for Rare Mitochondrial Disorders Victoria is a Consultant Paediatrician in Mitochondrial Diseases and Honorary Senior Clinical Lecturer in Paediatrics. She is the Clinical Lead for the NHS Highly Specialised Service for Rare Mitochondrial Disorders in Oxford. She strives to increase awareness of mitochondrial disease in order to diagnose children earlier. Victoria is the Principal Investigator for Oxford on the MRC Mitochondrial Diseases Patient Cohort Study (UK). Her research interests also include the natural history of mitochondrial disorders and phenotype-genotype correlations. |
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JAQUELINE PALACE, Nuffield Department of Clinical Neurosciences Jackie Palace is a consultant neurologist in Oxford and Associate Professor of Nuffield Department of Clinical Neurosciences, University of Oxford. She runs a national service for congenital myasthenic syndromes, a myasthenia service for adults and children, leads the Oxford Multiple Sclerosis group and jointly a UK neuromyelitis optica service. Her research interests are the genetics and immunological basis of myasthenias, treatment trials, immunology, pathology, biomarkers, genetics and imaging. She is the Oxford lead for the European Rare Network for Neuromuscular Diseases. |
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JOANNA POULTON, Women's and Reproductive Health Joanna Poulton is Professor and Honorary Consultant in Mitochondrial Genetics at Oxford and at Great Ormond St Hospital. In mitochondrial DNA (mtDNA) diseases, patients may harbour a mixture of normal and damaged mtDNA (heteroplasmy), the mixture determining the disease severity. Jo’s data on the transmission of mtDNA (“the bottleneck”) were a breakthrough for the feasibility of mtDNA prenatal diagnosis and ultimately for the high-profile mitochondrial replacement therapy, “three parent babies”. Current work focusses on exploiting mitophagy to treat mitochondrial disease. |
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SITHARA RAMDAS, OUH Neurology Sithara Ramdas is a Consultant Paediatric Neurologist at the Oxford Children’s Hospital and Honorary Senior Clinical Lecturer with the University of Oxford. Her areas of specialist interest are neuromuscular disorders and neuroimmunology. She runs a multi-disciplinary regional paediatric neuromuscular service. She is the research lead for the paediatric neurology department. She is also works within the National Highly Specialised Services for Congenital Myasthenia Syndromes and for Neuromyelitis Optica. |
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CARLO RINALDI, Department of Paediatrics Carlo Rinaldi, MD PhD is Associate Professor at the University of Oxford and Honorary Consultant Neurologist at the John Radcliffe Hospital in Oxford and at the National Hospital for Neurology and Neurosurgery in London. His research interests span from gene identification to treatment development in neuromuscular conditions. Carlo is currently working on gene therapy strategies to counteract muscle atrophy in genetic conditions such as spinal and bulbar muscular atrophy and Duchenne muscular dystrophy. |
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SIMON RINALDI, Nuffield Department of Clinical Neurosciences Dr Simon Rinaldi, MRCP(Neuro), PhD, is Associate Professor at the University of Oxford, MRC Clinician Scientist and Honorary Consultant Neurologist. Dr Rinaldi leads Oxford's programme of research into the inflammatory neuropathies, disabling disorders characterised by progressive paralysis and loss of sensation. However, the immuno-pathological mechanisms driving them are incompletely characterised, and therapies for these conditions have not advanced in over 20 years. His group have developed cell-based assays to improve diagnosis and treatment selection and use human stem-cell based myelinating co-cultures to study disease mechanisms. |
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THOMAS ROBERTS, Department of Paediatrics Tom Roberts is a research fellow at the Institute of Developmental and Regenerative Medicine and senior research scientist at the Department of Paediatrics, University of Oxford. He leads the RNA Medicine research group, with interests including neuromuscular disorders, RNA biology, extracellular nucleic acids, biomarkers, epigenetics, and gene/oligonucleotide therapies. In 2022 he founded a biotech start-up company, Orfonyx Bio, that aims to develop genetic medicines for rare diseases. |
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ANGELA RUSSEL, Chemistry Angela Russell is Professor of Medicinal Chemistry, Departments of Chemistry and Pharmacology at the University of Oxford. She has realised several successful multidisciplinary research collaborations, including identifying small molecules to upregulate utrophin for the treatment of Duchenne Muscular Dystrophy and the discovery and development of small molecules to manipulate stem cell fate. In 2013 she co-founded the Oxford spin-out MuOx Ltd, acquired by Summit Therapeutics plc, and co-founded OxStem Ltd in May 2016. |
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LAURENT SERVAIS, Department of Paediatrics Laurent Servais is Professor of Paediatric Neuromuscular Diseases at the University of Oxford and Invited Professor of Child Neurology at Liège University. He is Head of the Neuromuscular Reference Centre in Liège and is one of the creators and director of Institute I-Motion in Paris. He specialises in clinical programs in DMD and SMA and leads the newborn screening programme for SMA in the UK and a program that aims to bring digital endpoints to regulatory qualification. |
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KEVIN TALBOT, Nuffield Department of Clinical Neurosciences Kevin is Professor of Motor Neuron Biology and Head of the Division of Clinical Neurology at the University of Oxford. His research focuses on in vitro and in vivo modelling of pathogenesis in ALS, FTD and SMA to elucidate the mechanisms of motor neuron degeneration and accelerate the identification of disease modifying treatments. He also leads a specialist clinical service that provides a multidisciplinary team-based care for patients with ALS and SMA. |
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MARTIN TURNER, Nuffield Department of Clinical Neurosciences Martin Turner is Professor of Clinical Neurology & Neuroscience within Oxford University’s Nuffield Department of Clinical Neurosciences, consultant neurologist to the John Radcliffe Hospital, and co-director of the Oxford MND Clinic. Working with MND (ALS) patients for 20 years, his focus is the development of biomarkers from neuroimaging and biofluid assays, to accelerate therapy discovery. He currently chairs the Research Committee of the Association of British Neurologists, with oversight of their flagship Research Training Fellowship scheme. |
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MATTHEW WOOD, Department of Paediatrics Matthew is Professor of Neuroscience and Deputy Head of the Medical Sciences Division at the University of Oxford. He directs the Laboratory of RNA biology and Neuromuscular Disease investigating development of RNA-based medicines for neuromuscular disease including advanced generation antisense oligonucleotides. He is Director of the Oxford Rare Disease Centre, founder of the biotech spin-outs Evox Therapeutics (therapeutic exosome technology) and PepGen (peptide based drug delivery technology). |