The majority of neuromuscular diseases are rare genetic conditions. They either affect the anterior horn cell, the peripheral nerve, the neuromuscular junction or the muscle cell itself. The neuromuscular research group at the Institute of Human Genetics has both a clinical and a research interest in neuromuscular diseases. In our specialized clinics we follow more than a thousand local patients with a broad spectrum of neuromuscular conditions most of which show progressive muscle weakness and wasting. Even for experts in the field it is becoming increasingly difficult to distinguish and accurately diagnose all forms of neuromuscular diseases on clinical grounds alone, as there is currently a still growing number of about 200 different disease entities. This urges a collaborative effort among clinicians and scientists who work on diagnosis, pathogenesis, and on therapeutic approaches in neuromuscular diseases.
A main interest of the neuromuscular team is around translational research. Together with Professor Bushby (see separate entry) Professor Straub is coordinating a network of excellence for translational research in rare inherited neuromuscular diseases funded by the European Commission. The ultimate goal of the network, called TREAT-NMD (www.treat-nmd.eu) is to accelerate the development of curative treatments for patients with neuromuscular diseases. To reach this goal the network is addressing the fragmentation currently hindering translational research for cutting edge therapies in these diseases. Preparing the patient population for trials involves the development of integrated databases and biobanks, standardised protocols for diagnosis, standards of care and validated outcome measures. The network is supported by a programme of education and outreach.
Within the neuromuscular research group Professor Straub has a long-standing interest in the pathogenesis of muscular dystrophies. Mechanisms of muscle fibre damage and repair are studied in zebrafish and mouse models for the diseases. The application of contrast enhanced MRI and quantitative MRI gives an insight into the dynamic processes underlying muscle fibre de- and regeneration. Professor Straub is an IHG 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.
Our work is supported by the EU, the Muscular Dystrophy Campaign, the Association Francaise contre les Myopathies, the British Heart Foundation, the German Federal Ministry of Education and Research, the Department of Health and the MRC.
Alasdair Wood BSc
MRC MRes/PhD student
Penny Garrood BSc MBBS MRCPCH
MDC PhD student
Elizabeth Greally BSc
Muscular Dystrophy Campaign Research Technician
Alison Blain BSc PhD