MRC Centre for Neuromuscular Diseases in Children and Adults

A large number of people in the UK have diseases which affect their muscles and the nerves supplying muscles. Many of these disease are genetic and may develop at a young age causing severe disabilty and early death. A well known example is Duchenne muscular dystrophy but there are many other diseses affecting muscle an nerves that cause a lot of disability. There has been much research into these conditions and advances have been made in understanding the molecular and genetic causes. Unfortunatley this has not translated into new treatments that benefit patients. There are a number of reasons why these discoveries have not benefited patients yet. In this research programme we want to continue making important molecular discoveries but we also want to address this problem of translating molecular discoveries into treatment for patients. We will do this by developing better ways of assessing both animal models and patients using new techniques such as MRI. We will organise better systems for doing clnical trials, we will establish better systems to allow scientists to do research on patient samples with their consent and we will establish better ways of training more new researchers in this important area. We believe that this combined approach of having a single centre that encompasess molecular discovery right through to clinical trials in the patient will be a big advance for helping patients with these disabling diseases.

In the UK there is a large gap between basic science discoveries and patient benefit in neuromuscular diseases. In order to reduce this gap, we will establish the first truly multidisciplinary UK translational research centre for children and adults with these disabling diseases. The centre will be based in the Institute of Neurology in collaboration with the Institute of Child Health, and will take full advantage of the largest UK neuromuscular patient populations at the co-located partner NHS Trusts: Great Ormond Street NHS Trust and the National Hospital for Neurology and Neurosurgery, UCLH, NHS Trust. The mission of the centre will be to translate basic science findings into clinical trials and new treatments for children and adults with disabling neuromuscular diseases.
The main programmes of research will build on existing funded [#10million] themes currently active across UCL. We will develop new cross cutting collaborations and will recruit new world class senior academic personnel to UCL acheiving critical mass. All programmes of research will impact upon and benefit from the following core areas that will be newly developed in the centre and which are a current hurdle to effective translational research in the UK; 1.education and training to produce a new generation of neuromuscular scientists 2.developing a range of specific clinical assessment tools to facilitate future clinical trials in the UK. 3.Establishing new cutting edge MRI of nerve and muscle disease in animals and humans. 4.Establishing a unique biobank of human neuromuscular patients tissues and cells. 5.Establishing a network and resource for elucidating the pathogenesis of neuromuscular conditions in mutant mice. The research programmes cover major diseases of muscle and nerve and include molecular mechanisms in muscular dystrophy, mitochondrial DNA neuromuscular disease, ion channel neuromuscular disease, muscle stem cells, genetic neuropathies, spinal muscular atrophy, generation of neuromuscular disease mutant mice, MRI of nerve and muscles in animals and humans and trials & outcomes in neuromuscular diseases. This combined approach will address unresolved aspects related to the pathophsyiology of common neuromuscular disorders and improve the chances of translation into patient benefit.