News ArchiveNIH Grant for research into inherited neuropathies1st October 2009 Dr Mary Reilly (MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, UCL Institute of Neurology) and Professor Michael Shy, (Wayne State University, USA) together with four other US collaborators have just been awarded a $6.25 million grant from the NIH Rare Diseases Clinical Research Network to fund research into Charcot-Marie Tooth disease.  Charcot-Marie Tooth disease is an inherited peripheral neuropathy which causes slowly progressive wasting, weakness and numbness in the legs and arms often starting in childhood and progressing into adulthood. It is the commonest inherited neuromuscular disease affecting approximately 1 in 2,500 people. In the last two decades there have been rapid advancements in the understanding of the causative genes of these conditions with mutations described in more than 40 genes but so far no effective therapy has been developed to treat patients with Charcot-Marie Tooth disease. The aim of the Inherited Neuropathy Consortium that this grant will be used to fund is to focus on translational research to try to develop therapies for patients with Charcot-Marie Tooth disease. The projects funded by this research include natural history studies of many of the rare forms of Charcot-Marie Tooth disease, the development of outcome measures which are suitable for adults and children with Charcot-Marie Tooth disease and which can be used in both natural history studies and clinical trials and the identification of new genes and genetic modifiers of known genes in patients with Charcot-Marie Tooth disease. The Consortium will also run a training programme for senior clinical trainees who want to develop an academic career researching inherited neuropathies. This programme will involve training clinical researchers both in the UK and in the US and will involve the trainees from each country rotating to the other country. The Director of Training for both the UK and the US will be Dr Reilly. The research and training parts of the NIH grant that are based in the UK will take place in the MRC Centre for Neuromuscular diseases. This funding from the NIH is a very exciting development for inherited neuropathy research. Please click on the link below for further information: http://www.nih.gov/news/health/oct2009/od-05.htm UK Neuromuscular Translational Research Conference International Centre for Life, Newcastle-Upon-Tyne, This two-day conference hosted by the MRC Centre for Neuromsucular Diseases, and the Muscular Dystrophy Campaign showcased the best UK neuromuscular science, and highlighted its translation into patient benefit. The conference included invited keynote speakers providing state of the art overviews, as well as platform and poster presentations from submitted abstracts. Professor Dame Kay Davies delivered the John Walton Lecture. Both days of the two-day conference were designed to engage basic and clinical neuromuscular scientists and neuromuscular clinicians, and the meeting fulfilled the aims of the previous MDC run symposium with parallel sessions on 26th March for the therapy networks. Delegates attended a reception and gala dinner on the Thursday evening.  Key themes encompassed basic science to clinical care and included: Molecular therapies in neuromuscular disease Exercise therapy and muscle disease Focus on latest developments in muscle disease Focus on latest developments in peripheral nerve disease Neuromuscular channelopathies Please click here to view the programme. Second London Myology Forum The second myology forum was held on Tuesday 11th November 2008 at Queen Square. Mitochondrial Patient Day The Centre for Neuromuscular Diseases at the National Hospital runs a nationally commissioned service for patients with an uncommon form of neuromuscular disorder know as mitochondrial disease. Mitochondria are the batteries in every living cell that produce essential energy. Mitochondrial disease can be difficult to diagnose and symptoms are very varied ranging from muscle fatigue or weakness to strokes or epilepsy. This NCG service, lead by Professor Hanna, undertakes comprehensive clinical assessment, genetic testing, muscle biopsy evaluation and mitochondrial biochemical evaluation for patients from throughout the country. The centre for neuromuscular diseases held the first mitochondrial patient education and information day on the 15th of November 2008 at Queen Square. Mitochondrial patients and their families came from all over the UK to hear about different aspects mitochondrial disease including diagnosis, treatment and care. Members of the entire multidisciplinary mitochondrial NCG team at Queen Square were on hand to answer questions and explain the diagnostic process, care and treatment through practical demonstrations and posters. Patients also had the important opportunity to meet other families who were affected by mitochondrial disease. The feedback was very positive and we are already looking forward to the next patient mitochondrial patient day at Queen Square in November 2009. Patient organisation representatives meetingThursday 13th November 2008, Queen Square. Our mission is to translate basic science findings into clinical trials and new treatments for children and adults with disabling neuromuscular diseases. This meeting brought together patient organisations in the UK who focus on different aspects of neuromuscular diseases, and provided a forum to learn about and discuss the clinical and basic research activities of the Centre. A reception following the meeting provided an opportunity to informally meet the principle investigators. Click here for the programme. Click here for further information about the centre. To receive information about future events, please email the centre administrator at z.scott@ion.ucl.ac.uk. 
Inaugural Scientific meeting of the new MRC Centre for Neuromuscular Disease 1-2 Februrary 2008, London Centre Director Professor Michael G Hanna Centre Deputy Directors Professor KM Bushby and Professor Martin Koltzenburg Over 330 delegates attended the inaugural scientific meeting of the first MRC funded centre for translational research in neuromuscular disease. The meeting was jointly hosted between by the MRC Centre and the Muscular Dystrophy Campaign. This new centre aims to bring together clinicians, scientists, patient organisations and patients in order to advance UK translational research in neuromuscular disease. This is a particularly exciting time in the field as a range of basic science discoveries are revealing an increasing number of therapeutic targets. The centre aims to work with all its partners to support the development of a trials culture for patients with neuromuscular diseases. The MRC Centre is a joint partnership between the Institute of Neurology UCL, the Institute of Child Health, UCL and the University of Newcastle-upon-Tyne. There are close links to its partner NHS organisations, University College London Hospitals NHS Foundation Trust, Great Ormond Street Hospital for Children and Newcastle Upon Tyne Hospitals NHS Foundation Trust, Over the two days a programme of international speakers delivered state-of-the art lectures in the basic science foundations of translational research and in relation to the tools required to deliver translational research. There was also an important session which explored how the MRC Centre can contribute to developing UK patient/expert clinician networks and to TREAT-NMD. It is these networks that are critical to the delivery of effective translational research and clinical trials. Over 60 high quality posters were presented. The programme and abstracts can be found here. There will be an annual scientific MRC Centre meeting, with the next due to be held in Newcastle, March 2009.  
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