Neuromuscular Group

The world leading position of muscle research in Newcastle was underlined with the creation of the John Walton Muscular Dystrophy Research Centre, bringing together around 80 muscle researchers. Newcastle has long been a world leader in muscle diseases with the centre named in honour of Lord Walton. Other luminaries include Frank Mastaglia and Professor Walter Bradley.

The 5* research organisation is a centre of excellence for diagnosis, management and research into inherited neuromuscular diseases and attracts researchers from arou d the world. There is overlap with other groups including the neurogenetics and mitochondrial groups, as well as allied disciplines, such as muscle neuroradiology.

Principle Investigators

Rita Barresi is the head of the Muscle Immunoanalysis Unit at Newcastle, which is the national referral centre for the diagnosis of limb-girdle muscular dystrophy (LGMDs). She has an international research profile in muscular dystrophies and has published widely in the field. She investigates the molecular mechanisms of LGMDs and related disorders with a view to finding new therapeutic options and guiding mutation analysis, genetic counselling and patient management. She works closely with Dr Richard Charlton.

Katie Bushby is a clinical academic, member of the Neuromuscular Research Group within the Institute of Human Genetics and plays a leading role in the National Commissioning Group (NCG) for rare neuromuscular diseases. Her team has developed an extensive programme looking at modelling muscular dystrophies and the detailed assessment of animal models, including zebrafish and functional cardiac and skeletal muscle performance in mouse models of disease.

Rita Horvath After graduating from the Semmelweis Medical University, Professor Horvath completed her clinical training in neurology in Budapest, Hungary. She started clinical research in mitochondrial disease in 1995 when she received a fellowship from the Soros Foundation to work in Professor Eric Shoubridge’s laboratory in Montreal, which was the basis of her PhD in 2000.She runs the regional neurogenetics clinic within the RVI.

Hanns Lochmueller is Professor of experimental myology with the Neuromuscular Research Group within the Institute of Human Genetics at Newcastle. Professor Lochmüller has a long-standing interest in the molecular genetics of inherited myopathies and neuromuscular junction disorders. He studies animal models of these disorders with a view to understanding their pathophysiology as well as developing means to monitor disease progression and therapeutic interventions. Professor Lochmüller’s ongoing work is investigating cell and animal models of muscular dystrophy and concentrates on gene transfer, pharmacological interventions and cell therapy.

James Miller is a consultant neurologist at Newcastle upon Tyne Hospitals NHS Trust, based at the Royal Victoria Infirmary. He has a specialist interest in neuromuscular disease and in particular acquired and immune-mediated disorders including myositis, CIDP and myasthenia gravis. He has established specialist multidisciplinary clinics for patients with dermatomyositis and with paraprotein related neuropathies. His current research interests include the AOMIC study of the genetics of myositis and the pathophysiology and clinical phenotypes of inclusion body myositis.

Volker Straub is an Institute of Human Genetics executive board member, an executive board member of the World Muscle Society and the R&D Director of the North Tees and Hartlepool NHS Foundation Trust. He has a long-standing interest in the pathogenesis of muscular dystrophies. Professor Straub is helping to coordinate a network of excellence for translational research in rare inherited neuromuscular diseases funded by the European Commission that aims to accelerate the development of curative treatments for patients with neuromuscular diseases.

Other representative members of the neuromuscular group include:

Dr Michelle Eagle is a consultant physiotherapist. She is responsible for the physiotherapy management of both children and adults with neuromuscular diseases. In particular her interests are in outcome measures, respiratory management, assessment, exercise and orthotics. Michelle has consulted on various research trials and is increasingly involved in the development of protocols for clinical research. She is on the steering committee for an international trial of steroids in Duchenne Muscular Dystrophy and was one of the international clinical evaluator trainers for the PTC 124 trial, she leads the team of trainers for the GSK/Prosensa clinical trials programme. Michelle also conducts clinical evaluation of children and adults who participate in clinical trials.
Michelle is vice-chair of the Neuromuscular Group affiliated to the Chartered Society of Physiotherapy. She lectures internationally on various aspects of management in neuromuscular disease.

Dr Anna Sarkozy, a clinical geneticist working in the Newcastle Muscle team as a specialty doctor in neuromuscular genetics. Anna has a research interest in clinical genetics and more recently in muscular dystrophies. She is particularly interested in clarifying the phenotypes of genetic neuromuscular diseases, identifying their genetic causes and elucidating possible genotype-phenotype correlations.

Dr Michela Guglieri, a neurologist with a special interest in inherited neuromuscular diseases and experience in clinical trials. Michela is appointed as senior clinical research fellow at the Newcastle University with honorary consultant post in clinical genetics at Newcastle upon Tyne Hospital NHS Trust. Michela has a particular interest in clinical translational research in neuromuscular conditions and has been leading as sub-investigator for several clinical trials in Duchenne muscular dystrophy. She is chief medical coordinator in an NIH funded trial in Duchenne muscular dystrophy.

Dr Anna Mayhew, a consultant research physiotherapist. She is particularly interested in the development of outcome measures for the clinical assessment of neuromuscular diseases and specifically the evaluation of functional scales by Rasch analysis. She is one of the international trainers for the GSK/Prosensa programme. Anna is involved in the SMARTNET and North Star projects for SMA and DMD and also conducts clinical evaluation for patients involved in clinical trials.

Ian Schofield, a consultant clinical neurophysiologist. His primary research interests are in both the clinical and technical aspects of Clinical Neurophysiology. He is currently involved in an EU-wide clinical audit project but also maintains activities in the areas of signal processing and expert systems. Dr Schofield also has an interest and some experience in imaging technologies as applied to neurophysiology. He has been a member of the University School of Neurosciences since qualifying in medicine in 1979.

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