MRC Centre for Neuromuscular Diseases in Children and Adults

Lead Research Organisation: University College London
Department Name: Institute of Neurology

Abstract

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.

Technical Summary

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.

Organisations

Publications

10 25 50

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Aboumousa A (2008) Caveolinopathy--new mutations and additional symptoms. in Neuromuscular disorders : NMD

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Abramov AY (2010) Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations. in Brain : a journal of neurology

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Ackroyd MR (2011) Fukutin-related protein alters the deposition of laminin in the eye and brain. in The Journal of neuroscience : the official journal of the Society for Neuroscience

 
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Sector Charity/Non Profit
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Sector Charity/Non Profit
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Sector Academic/University
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Sector Charity/Non Profit
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Amount £68,000 (GBP)
Organisation Thierry Latran Foundation 
Sector Charity/Non Profit
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Amount £275,000 (GBP)
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Sector Charity/Non Profit
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End 12/2010
 
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Organisation Muscular Dystrophy UK 
Sector Charity/Non Profit
Country United Kingdom
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End 12/2010
 
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Amount £50,000 (GBP)
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Sector Charity/Non Profit
Country United Kingdom
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End 12/2009
 
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Amount £95,000 (GBP)
Organisation Muscular Dystrophy UK 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2008 
End 12/2010
 
Description Project Grant
Amount £47,000 (GBP)
Organisation French Muscular Dystrophy Association (AFM) 
Sector Charity/Non Profit
Country France
Start 01/2009 
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Sector Private
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Sector Charity/Non Profit
Country United Kingdom
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Sector Charity/Non Profit
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Sector Charity/Non Profit
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Sector Charity/Non Profit
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Organisation French Muscular Dystrophy Association (AFM) 
Sector Charity/Non Profit
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End 12/2010
 
Description Project Grant
Amount £850,000 (GBP)
Organisation European Commission 
Sector Public
Country European Union (EU)
Start 01/2010 
End 12/2012
 
Description Project Grant
Amount £2,468,621 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2010 
End 12/2013
 
Description Project Grant
Amount £111,812 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2007 
End 01/2009
 
Description Project Grant
Amount £42,000 (GBP)
Organisation Motor Neurone Disease Association (MND) 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2011 
End 12/2012
 
Description Project Grant
Amount £228,275 (GBP)
Organisation Muscular Dystrophy UK 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2009 
End 12/2012
 
Description Project Grant
Amount £4,507,000 (GBP)
Organisation European Commission 
Sector Public
Country European Union (EU)
Start 01/2009 
End 12/2010
 
Description Project Grant
Amount £2,550,000 (GBP)
Organisation European Commission 
Sector Public
Country European Union (EU)
Start 01/2008 
End 12/2010
 
Description Project Grant
Amount £800,000 (GBP)
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom
Start 01/2008 
End 12/2010
 
Description Project Grant
Amount £90,000 (GBP)
Organisation Action Medical Research 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2006 
End 12/2008
 
Description Project Grant
Amount £166,891 (GBP)
Organisation Carlo Besta Neurological Institute 
Sector Public
Country Italy
Start 09/2009 
End 09/2012
 
Description Project Grant
Amount £80,000 (GBP)
Organisation French Muscular Dystrophy Association (AFM) 
Sector Charity/Non Profit
Country France
Start 01/2009 
End 12/2010
 
Description Project Grant/Arthitis Research Campaign
Amount £133,414 (GBP)
Organisation Versus Arthritis 
Start  
 
Description Project Grant/Brain Research Trust
Amount £26,106 (GBP)
Organisation Brain Research Trust (BRT) 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2008 
End 01/2009
 
Description Project Grant/Brain Research Trust
Amount £60,000 (GBP)
Organisation Brain Research Trust (BRT) 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2009 
End 12/2010
 
Description Project Grant/Duchenne Ireland
Amount £80,646 (GBP)
Organisation Action Duchenne 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2009 
End 12/2009
 
Description Project Grant/Federal Ministry of Education and Research
Amount £18,938 (GBP)
Organisation German Federal Ministry of Education and Research 
Sector Public
Country Germany
Start 01/2006 
End 12/2008
 
Description Project Grant/Gavriel Meier Trust
Amount £480,000 (GBP)
Organisation GM Trust (Gavriel Meir Trust Duchenne Muscular Dystrophy Charity) 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2008 
End 12/2011
 
Description Project Grant/International Collaborative Effort for DMD
Amount £230,208 (GBP)
Organisation International Collaborative Effort for DMD 
Sector Academic/University
Country Global
Start 01/2009 
End 12/2011
 
Description Project Grant/Jain Foundation
Amount £35,500 (GBP)
Organisation Jain Foundation 
Sector Charity/Non Profit
Country United States
Start 01/2007 
End 11/2008
 
Description Project Grant/Lundbeck Foundation
Amount £53,000 (GBP)
Organisation Lundbeck Foundation 
Sector Charity/Non Profit
Country Denmark
Start 01/2009 
End 12/2010
 
Description Project Grant/Muscular Dystrophy Association (USA)
Amount £237,000 (GBP)
Organisation Muscular Dystrophy Association 
Sector Charity/Non Profit
Country United States
Start 01/2008 
End 12/2010
 
Description Project Grant/Myasthenia Gravis Association
Amount £160,000 (GBP)
Organisation Myaware 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2008 
End 12/2011
 
Description Project Grant/Newcastle upon Tyne Hospitals NHS Charities
Amount £48,122 (GBP)
Organisation Newcastle upon Tyne Hospitals NHS Charity 
Sector Charity/Non Profit
Country United Kingdom
Start  
 
Description Project Grant/Organon
Amount £50,000 (GBP)
Organisation Merck 
Sector Private
Country Germany
Start  
 
Description Project Grant/Organon
Amount £56,820 (GBP)
Organisation Biotechnology and Biological Sciences Research Council (BBSRC) 
Sector Public
Country United Kingdom
Start  
 
Description Project Grant/Special Trustees, Newcastle Upon Tyne Hospitals NHS Foundation Trust
Amount £24,051 (GBP)
Organisation Newcastle upon Tyne Hospitals NHS Foundation Trust 
Sector Public
Country United Kingdom
Start 01/2008 
End 12/2009
 
Description Project Grant/UCL/UCLH Comprehensive Biomedical Research Centre
Amount £90,000 (GBP)
Organisation National Institute for Health Research 
Department UCLH/UCL Biomedical Research Centre
Sector Public
Country United Kingdom
Start 01/2008 
End 12/2011
 
Description Project Grant/UCLH CBRC
Amount £180,000 (GBP)
Organisation National Institute for Health Research 
Department UCLH/UCL Biomedical Research Centre
Sector Public
Country United Kingdom
Start 01/2009 
End 12/2012
 
Description Project grant
Amount £2,468,621 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2011 
End 12/2013
 
Description Project grant
Amount £4,878,800 (GBP)
Organisation French Muscular Dystrophy Association (AFM) 
Sector Charity/Non Profit
Country France
Start 01/2011 
End 12/2014
 
Description Project grant: A randomised controlled trial of efficacy of heat shock protein upregulation in IBM
Amount $1,543,444 (USD)
Organisation Food and Drug Administration (FDA) 
Sector Public
Country United States
Start  
 
Description Proof of concept trial
Amount $100,000 (USD)
Organisation Higher Education Funding Council for England 
Sector Public
Country United Kingdom
Start 05/2016 
End 07/2016
 
Description Refurbishment Grant/UCL/UCLH Comprehensive Biomedical Research Centre
Amount £2,100,000 (GBP)
Organisation National Institute for Health Research 
Department UCLH/UCL Biomedical Research Centre
Sector Public
Country United Kingdom
Start 01/2009 
End 12/2009
 
Description Refurbishment Grant/UCL/UCLH Comprehensive Biomedical Research Centre
Amount £460,000 (GBP)
Organisation National Institute for Health Research 
Department UCLH/UCL Biomedical Research Centre
Sector Public
Country United Kingdom
Start 01/2009 
End 12/2009
 
Description Research Collaboration Agreement
Amount £78,000 (GBP)
Organisation GlaxoSmithKline (GSK) 
Sector Private
Country Global
Start 01/2010 
End 12/2011
 
Description Research Grant
Amount £146,520 (GBP)
Organisation Muscular Dystrophy UK 
Sector Charity/Non Profit
Country United Kingdom
Start 09/2017 
End 08/2019
 
Description Senior Clinical Fellowship
Amount £283,711 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 04/2018 
End 03/2019
 
Description Showcase Grant
Amount £154,658 (GBP)
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom
Start 01/2009 
End 12/2010
 
Description Solve-RD
Amount € 20,000 (EUR)
Funding ID 779257 
Organisation European Union 
Sector Public
Country European Union (EU)
Start 01/2018 
End 12/2022
 
Description Support NIH RDCRC natural history stdy
Amount £108,000 (GBP)
Organisation National Institute for Health Research 
Department Comprehensive Clinical Research Network (Coordinating Centre) – NIHR
Sector Public
Country United Kingdom
Start 01/2011 
End 12/2012
 
Description Sylvia Aitken Project Grant
Amount £200,182 (GBP)
Organisation The Sylvia Aitken Charitable Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 08/2011 
End 07/2014
 
Description TREAT-NMD Translational Research in Europe - Assessment and Treatment of Neuromuscular Diseases (10m euros across 27 participants)
Amount £1,357,222 (GBP)
Funding ID 36825 
Organisation European Commission 
Sector Public
Country European Union (EU)
Start 01/2007 
End 12/2011
 
Description The Ipsen Fund - Clinical Research Training Fellowship
Amount £50,000 (GBP)
Organisation Ipsen 
Department Ipsen Fund
Sector Charity/Non Profit
Country Global
Start  
 
Description Training Grant
Amount £50,000 (GBP)
Organisation Ipsen 
Department Ipsen Fund
Sector Charity/Non Profit
Country Global
Start 09/2010 
End 08/2011
 
Description UCL - CDRC Fast Track Grant/Sparker Enterprises
Amount £30,000 (GBP)
Organisation University College London 
Sector Academic/University
Country United Kingdom
Start  
 
Description UCL CBRC Project Grant
Amount £67,000 (GBP)
Organisation National Institute for Health Research 
Department UCLH/UCL Biomedical Research Centre
Sector Public
Country United Kingdom
Start 01/2011 
End 12/2012
 
Description UCL/UCLH CBRC Capital Bid
Amount £339,000 (GBP)
Organisation National Institute for Health Research 
Department UCLH/UCL Biomedical Research Centre
Sector Public
Country United Kingdom
Start 09/2011 
End 08/2016
 
Description UCL/UCLH CBRC Flexibility and Sustainability Funding
Amount £46,785 (GBP)
Organisation National Institute for Health Research 
Sector Public
Country United Kingdom
Start 04/2011 
End 03/2012
 
Description UCL/UCLH Comprehensive Biomedical Research Centre - Project Grant
Amount £93,001 (GBP)
Organisation National Institute for Health Research 
Department UCLH/UCL Biomedical Research Centre
Sector Public
Country United Kingdom
Start  
 
Description UCL/UCLH Comprehensive Biomedical Research Centre Project Grant
Amount £90,000 (GBP)
Organisation National Institute for Health Research 
Department UCLH/UCL Biomedical Research Centre
Sector Public
Country United Kingdom
Start 02/2008 
End 12/2012
 
Description UCL/UCLH Comprehensive Biomedical Research Centre Researcher Salary
Amount £180,000 (GBP)
Organisation National Institute for Health Research 
Department UCLH/UCL Biomedical Research Centre
Sector Public
Country United Kingdom
Start 08/2008 
End 08/2012
 
Description UCLH Charities - Fast Track Grant.
Amount £40,000 (GBP)
Organisation University College London Hospital 
Department University College London Hospitals Charity (UCLH)
Sector Charity/Non Profit
Country United Kingdom
Start 03/2012 
End 08/2013
 
Description UCLH Clinical Research and Development Fast Track Grant
Amount £30,007 (GBP)
Organisation University College London Hospitals NHS Foundation Trust 
Sector Public
Country United Kingdom
Start 01/2008 
End 12/2009
 
Description UCLH National Hospital Development Foundation - Impact PhD studentship scheme
Amount £60,000 (GBP)
Organisation University College London Hospitals NHS Foundation Trust 
Sector Public
Country United Kingdom
Start  
 
Description UCLH/UCL CDRC Fast Track Grant
Amount £32,000 (GBP)
Organisation University College London 
Sector Academic/University
Country United Kingdom
Start  
 
Description University Award
Amount £559,676 (GBP)
Organisation Lewy Body Society (LBS) 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2008 
End 12/2013
 
Description University College London & National Hospital Development Foundation Impact PhD studentship
Amount £60,372 (GBP)
Organisation University College London 
Sector Academic/University
Country United Kingdom
Start 09/2011 
End 08/2014
 
Description University College London & Private Donor Impact PhD studentship
Amount £60,372 (GBP)
Organisation University College London 
Sector Academic/University
Country United Kingdom
Start 09/2011 
End 08/2014
 
Description University College London & Senexis Impact PhD studentship
Amount £60,372 (GBP)
Organisation University College London 
Sector Academic/University
Country United Kingdom
Start 09/2011 
End 08/2014
 
Description Vera Down Fellowship
Amount £50,000 (GBP)
Organisation British Medical Association (BMA) 
Sector Learned Society
Country United Kingdom
Start 01/2008 
End 01/2009
 
Description WT PhD Studentship
Amount £155,846 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 10/2008 
End 09/2012
 
Description WT Programme Grant
Amount £1,284,915 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 06/2010 
End 05/2015
 
Description WT Project Grant
Amount £497,024 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 10/2010 
End 09/2013
 
Description WT Project Grant
Amount £229,336 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 11/2006 
End 10/2009
 
Description WT Senior Investigator Award
Amount £2,471,061 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 10/2011 
End 09/2018
 
Description Wellcome Trust/Department of Health - Health Innovation Challenge Fund
Amount £23,000 (GBP)
Organisation National Institute for Health Research 
Sector Public
Country United Kingdom
Start 06/2010 
End 05/2012
 
Description Wellcome Trust/Department of Health - Health Innovation Challenge Fund
Amount £22,367 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 06/2010 
End 05/2012
 
Description World Muscle Society Conference Sponsorship/Muscular Dystrophy Association (USA)
Amount £4,761 (GBP)
Organisation Muscular Dystrophy Association 
Sector Charity/Non Profit
Country United States
Start  
 
Title Adult North-Star Database 
Description Prospective data collection for natural history study of hundreds of young adults with Duchenne Muscular Dystrophy; coordination of 18 centres. 
Type Of Material Biological samples 
Year Produced 2010 
Provided To Others? Yes  
Impact Growth of national database. 
 
Title Analysis of cardiac function in mouse models 
Description Techniques to assess the cardiac phenotype of mouse models of muscular dystrophy in vivo. This includes analysis of the heart structure and function using MRI and conductance catheter studies to define the pressure-volume relationship of the cardiac cycle in live animals. 
Type Of Material Model of mechanisms or symptoms - mammalian in vivo 
Year Produced 2011 
Provided To Others? Yes  
Impact Recent publications: Bauer et al. 2009, Bauer et al. 2010. 
 
Title Biobank myoblast muscle cell lines 
Description Myoblasts cell lines have been established on over 1000 patients as part of routine diagnostics in our centre. Patients are consented to provide this as a gift to research. Cell lines are used for basic research activity. 
Type Of Material Biological samples 
Year Produced 2006 
Provided To Others? Yes  
Impact Joint publication in Journal of Biological chemistry 2007 investigating mtiochondrial dysfunction in patients with mitochondrial diseases. 
 
Title CMT DNA Bank 
Description DNA samples from Charcot Marie Tooth patients 
Type Of Material Biological samples 
Provided To Others? No  
Impact None as yet 
 
Title CMT International Database 
Description Produced a minimal dataset for a CMT international database. 
Type Of Material Biological samples 
Provided To Others? No  
Impact Published as workshop report in Neuromuscular Disorders PMID 20850975. 
URL http://europepmc.org/abstract/MED/20850975
 
Title CMT cohort 
Description Natural history patient data 
Type Of Material Biological samples 
Year Produced 2009 
Provided To Others? Yes  
Impact None as yet 
 
Title CMT studies/Natural History Study database 
Description Database of CMT patient natural history data in collaboration with the RDCRC housed at Florida, USA. 
Type Of Material Biological samples 
Year Produced 2011 
Provided To Others? Yes  
Impact None as yet. 
 
Title Channelopathy DNA Bank 
Description DNA samples from channelopathy patients 
Type Of Material Biological samples 
Provided To Others? No  
Impact None as yet 
 
Title Channelopathy cohort 
Description Natural history data from channelopathy patients 
Type Of Material Biological samples 
Year Produced 2010 
Provided To Others? Yes  
Impact None as yet 
 
Title Collagen VI fibroblast IF assay 
Description Correlation of collagen VI immunofluorescence staining pattern with mutation and clinical presentation. 
Type Of Material Technology assay or reagent 
Year Produced 2009 
Provided To Others? Yes  
Impact Provided to other researchers in 200 and 2009. Improvement in the diagnostic algorithm for Bethlem myopathy. 
 
Title Dysferlin and ANO5 constructs 
Description cDNA clones encoding either dysferlin or ANO5 have been inserted in frame with protein tags (myc tab, EGFP etc) for expression in cell culture. 
Type Of Material Cell line 
Year Produced 2011 
Provided To Others? Yes  
Impact Material provided to other researchers in 2008, 2009, 2010 and 2011. Collaborative publications e.g. Hernandez-Deviez 2008 and Cacciottolo 2011. 
 
Title GM mice without Notch1 in Schwann cells 
Description GM mice bred without Notch1 in Schwann cells 
Type Of Material Model of mechanisms or symptoms - mammalian in vivo 
Provided To Others? No  
Impact This mouse model has enabled us to study transdifferentiation and regeneration in the peripheral nervous system. 
 
Title GM mice without RBPj in Schwann cells 
Description GM mice bred without RBPj in Schwann cells. 
Type Of Material Model of mechanisms or symptoms - mammalian in vivo 
Provided To Others? No  
Impact This mouse model has enabled us to study transdifferentiation and regeneration in the peripheral nervous system. 
 
Title GM mice without c-Jun in Schwann cells 
Description GM mice bred without c-Jun in Schwann cells 
Type Of Material Model of mechanisms or symptoms - mammalian in vivo 
Provided To Others? No  
Impact This mouse model has enabled us to study transdifferentiation and regeneration in the peripheral nervous system. 
 
Title Hypo-osmotic shock to measure membrane stability 
Description Assay for membrane stability. By placing cells in hypo-osmotic medium we have developed a method to define the degree of membrane stability conferred by a restored dystrophin molecule based on the release of enzymes into the medium. 
Type Of Material Technology assay or reagent 
Provided To Others? No  
Impact Publication (Jorgensen et al. 2009) and further funding. 
 
Title IBM DNA Bank 
Description DNA samples from Inclusion Body Myositis patients 
Type Of Material Biological samples 
Provided To Others? No  
Impact None as yet 
 
Title IBM-Net 
Description Web-based database of patient information from IBM cohort. 
Type Of Material Biological samples 
Year Produced 2008 
Provided To Others? Yes  
Impact Continued growth of database. 
 
Title Immorto-mouse myoblast cell lines 
Description We have derived myoblasts from control, mdx and SJL (dysferlin-deficient) mouse lines and characterised them in culture. These cells can be used for a variety of in vitro analyses. 
Type Of Material Cell line 
Year Produced 2011 
Provided To Others? Yes  
Impact Publication in preparation. 
 
Title Inclusion Body Myositis cohort 
Description Natural history data from IBM patients. 
Type Of Material Biological samples 
Year Produced 2010 
Provided To Others? Yes  
Impact None as yet. 
 
Title International CMT Database 
Description International database of CMT patient data housed in Florida at DMCC in association with TREAT-NMD. 
Type Of Material Biological samples 
Year Produced 2011 
Provided To Others? Yes  
Impact None as yet. 
 
Title Manganese-enhanced MRI (MEMRI) 
Description Mangangese is a contrast agent in MRI which mimics calcium, and so shows increased contrast in muscular dystrophy where calcium is aberrantly elevated. 
Type Of Material Physiological assessment or outcome measure 
Provided To Others? No  
Impact Not yet. 
 
Title Mitochondrial cohort 
Description Natural history data from mitochondrial patients 
Type Of Material Biological samples 
Year Produced 2009 
Provided To Others? Yes  
Impact None as yet 
 
Title Mutant Mouse 
Description New mouse models with mutations in genes known to be causative for neurogeneration in humans. 
Type Of Material Model of mechanisms or symptoms - mammalian in vivo 
Year Produced 2010 
Provided To Others? Yes  
Impact Presentations at meetings. Papers to follow. 
 
Title North-Star 
Description Prospective data collection of natural history study of hundreds of children with Duchenne Muscular Dystrophy. 
Type Of Material Biological samples 
Year Produced 2008 
Provided To Others? Yes  
Impact Ongoing collection of data; growth of database. 
 
Title QTRAC 
Description QTRAC is the patented technique developed by Professor Hugh Bostock in the Centre for Neuromuscular disease which allows reliable clinical evaluation of peripheral nerve excitability - so called nerve excitability testing. This has been adopted in a number of clinical neurophysiology units worldwide. We have published on this work eg Tomlinson et al Nerve excitability testing in episodic ataxia Brain in press PMID 21106501. 
Type Of Material Physiological assessment or outcome measure 
Year Produced 2009 
Provided To Others? Yes  
Impact PMIDs 21106501, 20095022, 19900504, 20715364. 
URL http://europepmc.org/abstract/MED/21106501
 
Title Reliability and validity of the CMT neuropathy score as a measure of disability 
Description The 2005 CMT neuropathy score has been updated in 2010, and a paediatric version is also being produced. The scale is currently being validated. 
Type Of Material Physiological assessment or outcome measure 
Provided To Others? No  
Impact Reported in workshop report PMID 20850975. 
URL http://europepmc.org/abstract/MED/20850975
 
Title Smart-Net 
Description Prospective data collection of natural history study of hundreds of children with Spinal Muscular Atrophy. 
Type Of Material Biological samples 
Year Produced 2008 
Provided To Others? Yes  
Impact Continued growth of database. 
 
Title Standard battery for investigation of animal models of neuromuscular disease 
Description Established core techniques for behavioural assessment of mouse models of neuromuscular disease e.g.: Global behaviour Morphology Nerve and muscle function Nerve function Organ function Biochemistry Cellular function Molecular biolody 
Type Of Material Physiological assessment or outcome measure 
Year Produced 2008 
Provided To Others? Yes  
Impact Publications: PMID 19470612, 18495669, 19913415. 
URL http://europepmc.org/abstract/MED/19470612
 
Title iPSC cells derived from DMD patients 
Description We have derived iPSC from a series of DMD patient fibroblast cultures with a disparate set of mutations, some of which could be targeted using AONs. 
Type Of Material Cell line 
Provided To Others? No  
Impact Collaborative publications (Dick et al, 2010 and in preparation). 
 
Description Analysis of cardiac function in mouse models of muscular dystrophy 
Organisation Newcastle University
Department School of Biomedical Sciences
Country United Kingdom 
Sector Academic/University 
PI Contribution Provision of the mouse colony, personnel and consumables for the analyses.
Collaborator Contribution Expertise in haemodynamic measurements of cardiac function in rodents. Expertise in MRI analysis.
Impact PMID 19913415, 19233868 and 19259135.
Start Year 2007
 
Description Developing an In Vitro Model of Inclusion Body Myositis 
Organisation University College London
Department Institute of Neurology
Country United Kingdom 
Sector Academic/University 
PI Contribution Imparting clinical knowledge and skills.
Collaborator Contribution Developing an in vitro model of Inclusion Body Myositis
Impact ARC grant, one clinical research fellow, one PhD student, one paper in preparation. Clinical trial initiated. Multi-dispclinary - basic and clinical neuroscience.
Start Year 2008
 
Description Disease-causing mutant Hsp27 mutations 
Organisation University College London
Department Institute of Neurology
Country United Kingdom 
Sector Academic/University 
PI Contribution Clinical expertise.
Collaborator Contribution Modelling the pathogenesis of mutant Hsp27-induced peripheral neuropathy.
Impact One PhD student and one clinical research fellow sponsored by Ipsen. Multidisciplinary - basic and clinical neuroscience.
Start Year 2008
 
Description Dose ranging study of AVI-4658 to induce dystrophin expression 
Organisation AVI Biopharma, Inc
Department Research and Development AVI Biopharma
Country United States 
Sector Private 
PI Contribution Study design; clinical, molecular and pathological assessment of DMD patients; Biobank. Clinical support for the trial, laboratory studies on the efficacy of the study drug.
Collaborator Contribution Provided clinical grade study drug.
Impact An intramuscular phase I/II clinical trial in seven DMD boys from October 2007-March 2009.
Start Year 2007
 
Description Edison and Mitochondrial Disease 
Organisation Edison Pharmaceuticals
Country United States 
Sector Private 
PI Contribution Running planned clinical drug trial for mitochondrial disease. Supervision of a Clinical Research Fellow for one year.
Impact None as yet.
Start Year 2010
 
Description Establishing a Biobank for the MRC Centre for Neuromuscular Diseases 
Organisation University College London
Department Institute of Neurology
Country United Kingdom 
Sector Academic/University 
PI Contribution Provided facilities and staff support in form of Biobank Technician.
Collaborator Contribution Provided infrastructure and guidance to establish Biobank for neuromuscular disease. Facilitated relocation of the Dubowitz Neuromuscular Centre to Queen Square.
Impact The Dubowitz Neuromuscular Centre is now fully functional and CPA accredited. It is a valuable resource and a centre of excellence, proving a unique research infrastructure to the MRC Centre for Neuromuscular Diseases.
Start Year 2008
 
Description Evaluation of Biomarkers in DMD 
Organisation Pfizer Ltd
Department Orphan & Genetic Diseases Research Unit Pfizer
Country United Kingdom 
Sector Private 
PI Contribution We have provided mouse urine, tissue and myoblasts.
Collaborator Contribution Pfizer will shortly analyse the samples derived from our models for specific biomarkers.
Impact Further collaborative work in patient samples.
Start Year 2010
 
Description FOR-DMD: a large-scale multi-centre trial of steroids in DMD 
Organisation University of Rochester
Country United States 
Sector Academic/University 
PI Contribution Patient recruitment and data analysis. Collecting and processing data, provision of our own patient data.
Collaborator Contribution Coordination of trial, patient recruitment and data management
Impact None to date.
Start Year 2010
 
Description GSK and Muscle MRI 
Organisation GlaxoSmithKline (GSK)
Department Research and Development GSK
Country United Kingdom 
Sector Private 
PI Contribution Management of MRI Physicist working on muscle MRI project for two years.
Impact None as yet.
Start Year 2009
 
Description IBM-Net 
Organisation Muscular Dystrophy UK
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution Addition of patient data to web-based cohort of IBM patients.
Collaborator Contribution Addition of patient data to web-based cohort of IBM patients.Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients.
Impact Development of IBM-Net database.
Start Year 2008
 
Description IBM-Net 
Organisation Newcastle upon Tyne Hospitals NHS Foundation Trust
Department Neurology Service
Country United Kingdom 
Sector Hospitals 
PI Contribution Addition of patient data to web-based cohort of IBM patients.
Collaborator Contribution Addition of patient data to web-based cohort of IBM patients.Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients.
Impact Development of IBM-Net database.
Start Year 2008
 
Description IBM-Net 
Organisation Salford Royal NHS Foundation Trust
Department Department of Neurology
Country United Kingdom 
Sector Hospitals 
PI Contribution Addition of patient data to web-based cohort of IBM patients.
Collaborator Contribution Addition of patient data to web-based cohort of IBM patients.Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients.
Impact Development of IBM-Net database.
Start Year 2008
 
Description IBM-Net 
Organisation University Hospital Southampton NHS Foundation Trust
Department Department of Neurology
Country United Kingdom 
Sector Hospitals 
PI Contribution Addition of patient data to web-based cohort of IBM patients.
Collaborator Contribution Addition of patient data to web-based cohort of IBM patients.Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients.
Impact Development of IBM-Net database.
Start Year 2008
 
Description IBM-Net 
Organisation University of Oxford
Department Nuffield Department of Clinical Neurosciences
Country United Kingdom 
Sector Academic/University 
PI Contribution Addition of patient data to web-based cohort of IBM patients.
Collaborator Contribution Addition of patient data to web-based cohort of IBM patients.Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients. Addition of patient data to web-based cohort of IBM patients.
Impact Development of IBM-Net database.
Start Year 2008
 
Description Identification and characterisation of CMS genes 
Organisation ETH Zurich
Country Switzerland 
Sector Academic/University 
PI Contribution Patient material, consumables and personnel for gene analysis.
Collaborator Contribution Large-scale mapping and sequencing resources.Patient material.
Impact Clinical paper submitted. Scientific paper in preparation.
Start Year 2007
 
Description Identification and characterisation of CMS genes 
Organisation University of Otago
Department Department of Medicine
Country New Zealand 
Sector Academic/University 
PI Contribution Patient material, consumables and personnel for gene analysis.
Collaborator Contribution Large-scale mapping and sequencing resources.Patient material.
Impact Clinical paper submitted. Scientific paper in preparation.
Start Year 2007
 
Description Identifying causative genes and pathomechanisms in CMS 
Organisation Aarhus University
Department Institute of Human Genetics
Country Denmark 
Sector Academic/University 
PI Contribution We have provided samples, expertise and consumables.
Collaborator Contribution Information regarding gene function in CMS has been made available to the Newcastle group. Collaborators provided samples, expertise and consumables.Information regarding gene function in CMS has been made available to the Newcastle group. Collaborators provided samples, expertise and consumables.
Impact Joint publications (Beeson et al 2006; Senderek et al. 2011) and grant applications.
Start Year 2006
 
Description Identifying causative genes and pathomechanisms in CMS 
Organisation University of Oxford
Department Weatherall Institute of Molecular Medicine (WIMM)
Country United Kingdom 
Sector Public 
PI Contribution We have provided samples, expertise and consumables.
Collaborator Contribution Information regarding gene function in CMS has been made available to the Newcastle group. Collaborators provided samples, expertise and consumables.Information regarding gene function in CMS has been made available to the Newcastle group. Collaborators provided samples, expertise and consumables.
Impact Joint publications (Beeson et al 2006; Senderek et al. 2011) and grant applications.
Start Year 2006
 
Description Inclusion Body Myositis 
Organisation Muscular Dystrophy UK
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution Sharing patient data and clinical knowledge. Joint supervision of one Clinical Research Fellow working on IBM PhD project.
Collaborator Contribution Sharing patient data and clinical knowledge.Sharing patient data and clinical knowledge. Joint supervision of one Clinical Research Fellow.
Impact One clinical research fellow working on IBM PhD project, jointly supervised by MRC Centre for Neuromuscular Diseases and University of Oxford.
Start Year 2008
 
Description Inclusion Body Myositis 
Organisation Senexis Ltd Cambridge
Country United Kingdom 
Sector Private 
PI Contribution Sharing patient data and clinical knowledge. Joint supervision of one Clinical Research Fellow working on IBM PhD project.
Collaborator Contribution Sharing patient data and clinical knowledge.Sharing patient data and clinical knowledge. Joint supervision of one Clinical Research Fellow.
Impact One clinical research fellow working on IBM PhD project, jointly supervised by MRC Centre for Neuromuscular Diseases and University of Oxford.
Start Year 2008
 
Description Inclusion Body Myositis 
Organisation University of Manchester
Department School of Medicine Manchester
Country United Kingdom 
Sector Academic/University 
PI Contribution Sharing patient data and clinical knowledge. Joint supervision of one Clinical Research Fellow working on IBM PhD project.
Collaborator Contribution Sharing patient data and clinical knowledge.Sharing patient data and clinical knowledge. Joint supervision of one Clinical Research Fellow.
Impact One clinical research fellow working on IBM PhD project, jointly supervised by MRC Centre for Neuromuscular Diseases and University of Oxford.
Start Year 2008
 
Description Inclusion Body Myositis 
Organisation University of Oxford
Department Nuffield Department of Clinical Neurosciences
Country United Kingdom 
Sector Academic/University 
PI Contribution Sharing patient data and clinical knowledge. Joint supervision of one Clinical Research Fellow working on IBM PhD project.
Collaborator Contribution Sharing patient data and clinical knowledge.Sharing patient data and clinical knowledge. Joint supervision of one Clinical Research Fellow.
Impact One clinical research fellow working on IBM PhD project, jointly supervised by MRC Centre for Neuromuscular Diseases and University of Oxford.
Start Year 2008
 
Description Investigating Gars Mouse 
Organisation The Jackson Laboratory
Country United States 
Sector Charity/Non Profit 
PI Contribution Providing mice and skills.
Collaborator Contribution Specific skills, experience and mouse models.
Impact PMID 19470612.
Start Year 2008
 
Description Investigating LOA mouse 
Organisation University of Sussex
Department Brighton and Sussex Medical School
Country United Kingdom 
Sector Academic/University 
PI Contribution Providing mice and skills.
Collaborator Contribution Specific skills, experience and facilities.
Impact PMID 20382740.
Start Year 2007
 
Description Investigating novel TDP43 mutant mice 
Organisation University College London
Department Institute of Neurology
Country United Kingdom 
Sector Academic/University 
PI Contribution Clinical expertise.
Collaborator Contribution Physiological phenotyping of mutant TDP43 mice.
Impact One PhD student, two grants. Multidisciplinary - genetics and physiology.
Start Year 2009
 
Description Kennedy's Disease Research 
Organisation University College London
Department Institute of Neurology
Country United Kingdom 
Sector Academic/University 
PI Contribution Skills and clinical knowledge
Collaborator Contribution Investigating the pathogenesis of Kennedy's disease in vivo and in vitro
Impact Research donation; PhD student, three papers in preparation. Multi-disciplinary - basic and clinical neuroscience.
Start Year 2007
 
Description MRI analyses in muscular dystrophy 
Organisation Pierre and Marie Curie University - Paris 6
Department UMR 787 (Institute of Myology)
Country France 
Sector Academic/University 
PI Contribution Clinical Fellow (Dr Penny Garood) undertook research to develop MRI scanning techniques, and performed clinical research into MRI applications.
Collaborator Contribution Expertise in MRI.
Impact PMID 19856446.
Start Year 2007
 
Description MRI in LGMD2I 
Organisation University of Copenhagen
Department Department of Medicine
Country Denmark 
Sector Academic/University 
PI Contribution Clinical Fellow (Dr Tracy Willis) leading the Newcastle end of the collaboration. Provided patient recruitment resources and MRI scanning time.
Collaborator Contribution Expertise in functional analysis of muscle and MRI.
Impact Publication in preparation.
Start Year 2007
 
Description Mexiletine and Myotonia Congenita 
Organisation Shire Pharmaceuticals
Country Ireland 
Sector Private 
PI Contribution Providing clinical information regarding the side effects of mexiletine in myotonia congenita cohort.
Impact None to date
Start Year 2010
 
Description Mitochondrial dysfunction in ALS 
Organisation University College London
Department Institute of Neurology
Country United Kingdom 
Sector Academic/University 
PI Contribution Clinical knowledge.
Collaborator Contribution Primary cultures of muscles, astrocytes and motoneurons from transgenic mice.
Impact Two PhD students; one paper - Bisland et al 2009. Multidisciplinary - cellular physiology and confocal fluorescent imaging.
Start Year 2007
 
Description Muscle stem cells for therapies in muscular dystrophy 
Organisation University College London
Department Institute of Child Health
Country United Kingdom 
Sector Academic/University 
PI Contribution Development of optimal dystrophin constructs for gene replacement.
Collaborator Contribution Myogenic cell characterisation and lentiviral vector design.
Impact None to date.
Start Year 2007
 
Description Muscle stem cells in mitochondrial disease 
Organisation Newcastle University
Department School of Biomedical Sciences
Country United Kingdom 
Sector Academic/University 
PI Contribution Myoblast culture and analysis techniques.
Collaborator Contribution Expertise in analysis of mitochondria.
Impact Development of student's skill set. Publication in preparation.
Start Year 2007
 
Description NMD-CHIP 
Organisation National Institute of Health and Medical Research (INSERM)
Country France 
Sector Public 
PI Contribution Development of diagnostic tests and reagents.
Collaborator Contribution By tracking the latest developments in NMD diagnostics, we have been able to analyse our patient cohorts for novel genes.
Impact None to date.
Start Year 2008
 
Description National Neuromuscular Database 
Organisation Great Ormond Street Hospital (GOSH)
Department Department of Neurology
Country United Kingdom 
Sector Hospitals 
PI Contribution Contributing to and shared management of national neuromuscular database.
Collaborator Contribution Contribution of data and joint management of database.Contribution of data and joint management of umbrella database.Contribution of data and joint management of umbrella database.
Impact Growth and development of national neuromuscular database comprising data from four individual databases: IBM-Net Smart-Net NorthStar Congenital Muscular Dystrophy database
Start Year 2009
 
Description National Neuromuscular Database 
Organisation Newcastle University
Department Institute of Human Genetics
Country United Kingdom 
Sector Academic/University 
PI Contribution Contributing to and shared management of national neuromuscular database.
Collaborator Contribution Contribution of data and joint management of database.Contribution of data and joint management of umbrella database.Contribution of data and joint management of umbrella database.
Impact Growth and development of national neuromuscular database comprising data from four individual databases: IBM-Net Smart-Net NorthStar Congenital Muscular Dystrophy database
Start Year 2009
 
Description National Neuromuscular Database 
Organisation University College London
Department Institute of Child Health
Country United Kingdom 
Sector Academic/University 
PI Contribution Contributing to and shared management of national neuromuscular database.
Collaborator Contribution Contribution of data and joint management of database.Contribution of data and joint management of umbrella database.Contribution of data and joint management of umbrella database.
Impact Growth and development of national neuromuscular database comprising data from four individual databases: IBM-Net Smart-Net NorthStar Congenital Muscular Dystrophy database
Start Year 2009
 
Description Natural History Study of Dysferlinopathy 
Organisation Aix-Marseille University
Department Faculty of Medicine
Country France 
Sector Academic/University 
PI Contribution Coordination of the study, patient recruitment and data analysis.
Collaborator Contribution Coordination of trial, patient recruitment and data management.Patient recruitment and data analysis.
Impact None to date.
Start Year 2010
 
Description Natural History Study of Dysferlinopathy 
Organisation University of Barcelona
Country Spain 
Sector Academic/University 
PI Contribution Coordination of the study, patient recruitment and data analysis.
Collaborator Contribution Coordination of trial, patient recruitment and data management.Patient recruitment and data analysis.
Impact None to date.
Start Year 2010
 
Description New in vitro models for DMD using iPSC 
Organisation University of Nottingham
Department School of Clinical Sciences Nottingham
Country United Kingdom 
Sector Academic/University 
PI Contribution By extending our collaborative links to a group working on iPSC we have gained valuable technological insights, unique experimental materials and access to a wider collaborative network. We have provided fibroblasts from dystrophic patients and technical support and expertise in analysing derived cardiomyocytes.
Collaborator Contribution The Nottingham group have provided us with iPSC cells and have trained our technician in their generation and maintenance.
Impact Joint grant applications (outstanding) and joint publications (Dick et al. 2010 and in preparation).
Start Year 2009
 
Description North-Star 
Organisation Muscular Dystrophy UK
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution Prospective data collection for natural history study of hundreds of children with Duchenne Muscular Dystrophy; coordination of 18 centres.
Collaborator Contribution Administrative support.
Impact Ongoing growth of database.
Start Year 2008
 
Description Notch and c-Jun signalling in Schwann cells 
Organisation San Raffaele Hospital
Department San Raffaele Scientific Institute (SRSI)
Country Italy 
Sector Academic/University 
PI Contribution We mated the Po-CRE mice with other mice and analysed the result.
Collaborator Contribution The collaboration enabled us to generate mice without RBPj and c-June in Schwann cells. The collaborator provided us with Po-CRE mice.
Impact Two papers: PMID 19525946 and PMID 18490512.
Start Year 2006
 
Description Notch signalling in Schwann Cells 
Organisation Erasmus University Medical Center
Country Netherlands 
Sector Academic/University 
PI Contribution We mated the DhhCRE mice with other mice, and analysed the result.
Collaborator Contribution The collaboration enabled us to generate mice without RBPj in Schwann cells. The collaborator provided us with DhhCRE mice.
Impact One paper: PMID 19525946
Start Year 2006
 
Description PTRF-cavin in muscle disease 
Organisation Free University of Berlin
Department Medical School Berlin
Country Germany 
Sector Academic/University 
PI Contribution Patient material.
Collaborator Contribution PTFR-cavin resources.
Impact PMID 20300641.
Start Year 2007
 
Description RDCRC Inherited Neuropathies Consortium 
Organisation National Institutes of Health (NIH)
Country United States 
Sector Public 
PI Contribution Provision of patient data, Fellowship training scheme. PI is Co-Director of the consortium.
Collaborator Contribution International consortium for research into inherited neuropathies.
Impact Two clinical research fellows in the UK have completed the training scheme. One clinical research fellow is currently on the scheme. 21 research fellows funded by non-NIHR sources have completed/are undergoing the programme.
Start Year 2009
 
Description SOD1 GFP Investigation 
Organisation Cancer Research UK
Department Cancer Research UK London Research Institute (LRI)
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution Providing mice and skills.
Collaborator Contribution Resources and skills.Facilities and skills.
Impact PMID 20221404.
Start Year 2008
 
Description SOD1 GFP Investigation 
Organisation Harvard University
Department Harvard Medical School
Country United States 
Sector Academic/University 
PI Contribution Providing mice and skills.
Collaborator Contribution Resources and skills.Facilities and skills.
Impact PMID 20221404.
Start Year 2008
 
Description Schwann cell dedifferentiation and regeneration 
Organisation University College London
Country United Kingdom 
Sector Academic/University 
PI Contribution We analysed the results.
Collaborator Contribution The collaboration has enabled us to study regeneration in the facial nerve. The collaborator provided knowledge of the facial nerve.
Impact No papers to date.
Start Year 2008
 
Description Schwann cell deymelination 
Organisation Cancer Research UK
Department Cancer Research UK London Research Institute (LRI)
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution Our lab bred the mice and and analysed the progeny.
Collaborator Contribution The collaboration enabled us to study c-Jun function in vivo. The collaborator provided us with GM mice.
Impact Paper PMID 18490512.
Start Year 2008
 
Description Schwann cell precursors and regeneration 
Organisation King's College London
Department School of Biomedical Sciences KCL
Country United Kingdom 
Sector Academic/University 
PI Contribution We provided Schwann cell precursors and analysed the results.
Collaborator Contribution The collaborator has enabled us to study regeneration in the spinal cord. The collaborator carried out operations on the spinal cord.
Impact One paper: PMID 18484102
Start Year 2007
 
Description Smart-Net 
Organisation Muscular Dystrophy UK
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution Prospective data collection for natural history study of hundreds of children with spinal muscular atrophy; coordination of 18 centres.
Collaborator Contribution Administrative support.
Impact Continuing expansion of database.
Start Year 2008
 
Description Stem cell function in the dystroglycanopathies 
Organisation Royal Veterinary College (RVC)
Department Veterinary Basic Sciences
Country United Kingdom 
Sector Academic/University 
PI Contribution Skills and knowledge imparted from team at Dubowitz Neuromuscular Centre, UCL Institute of Child Health.
Collaborator Contribution Skills and knowledge.
Impact None as yet
Start Year 2008
 
Description Studying a novel gene for motor neuron degeneration 
Organisation MRC Harwell
Department MRC Mammalian Genetics Unit
Country United Kingdom 
Sector Public 
PI Contribution Providing new models for analysis of neurodegeneration.
Collaborator Contribution The partnership has extended the research into new areas.
Impact Awarded a grant for £110,000 from the Motor Neuron Diseases Association for a PhD student.
Start Year 2009
 
Description Studying new mouse models of ALS 
Organisation University College London
Department Institute of Neurology
Country United Kingdom 
Sector Academic/University 
PI Contribution Clinical expertise.
Collaborator Contribution Phenotyping of mouse models of ALS.
Impact One clinical research fellow. Multidisciplinary - genetics and physiology.
Start Year 2007
 
Description Therapeutic approaches in the dystroglycanopathies 
Organisation Royal Veterinary College (RVC)
Department Veterinary Basic Sciences
Country United Kingdom 
Sector Academic/University 
PI Contribution Skills and experience imparted from team at Dubowitz Neuromuscular Centre, UCL Institute of Child Health.
Collaborator Contribution Skills and experience.
Impact None as yet. Multidisciplinary - clinicians and basic scientists.
Start Year 2008
 
Description Translational research in mitochondrial disease 
Organisation Medical Research Council (MRC)
Department MRC Mitochondrial Biology Unit
Country United Kingdom 
Sector Public 
PI Contribution Patient data from mitochondrial patient cohort.
Collaborator Contribution Patient data, lab skills, sharing of clinical knowledge.
Impact None as yet
Start Year 2010
 
Description Translational research in muscular dystrophy 
Organisation Ludwig Maximilian University of Munich (LMU Munich)
Department Faculty of Medicine
Country Germany 
Sector Academic/University 
PI Contribution Patient material, clinical data, molecular analyses.
Collaborator Contribution Patient material, clinical data, molecular analyses.Patient material, clinical data, molecular analyses.
Impact Numerous publications, particularly PMID 20405137 and 20346669, 20562457.
Start Year 2007
 
Description Translational research in muscular dystrophy 
Organisation University of Otago
Department Department of Medicine
Country New Zealand 
Sector Academic/University 
PI Contribution Patient material, clinical data, molecular analyses.
Collaborator Contribution Patient material, clinical data, molecular analyses.Patient material, clinical data, molecular analyses.
Impact Numerous publications, particularly PMID 20405137 and 20346669, 20562457.
Start Year 2007
 
Description UK Heart Protection Trial 
Organisation Newcastle University
Department Institute of Human Genetics
Country United Kingdom 
Sector Academic/University 
PI Contribution Patient recruitment and data analysis.
Collaborator Contribution Clinical care and research.
Impact Contribution to the standards of care. PMID 19945913.
Start Year 2007
 
Description iPSCs for modelling dystrophic cardiomyoctes 
Organisation University of Nottingham
Department School of Molecular Medical Sciences Nottingham
Country United Kingdom 
Sector Academic/University 
PI Contribution Derivation of patient fibroblasts, characterisation.
Collaborator Contribution Development of iPSC lines from DMD fibroblasts.
Impact iPSCs derived and characterised. Publication in preparation.
Start Year 2007
 
Description CMT Patient Day 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Participants in your research and patient groups
Results and Impact The centre for neuromuscular diseases held the first CMT patient education and information day in 2010. CMT patients and their families came from all over the UK to hear about different aspects of CMT including diagnosis, treatment and care. Members of the entire multidisciplinary CMT 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 CMT.

.
Year(s) Of Engagement Activity 2010,2011,2012
 
Description Channelopathy Patient Day 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Participants in your research and patient groups
Results and Impact The centre for neuromuscular diseases held the first channelopathy patient education and information day on 23rd January 2010 at Queen Square. Channelopathy patients and their families came from across the UK to hear about different aspects of channelopathies including diagnosis, treatment and care. Members of the entire multidisciplinary channelopathy 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 channelopathies.

A second patient day is planned for 2011.
Year(s) Of Engagement Activity 2010,2011,2012
 
Description IvIg Patient Information Day 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Participants in your research and patient groups
Results and Impact The centre for neuromuscular diseases held the first IvIg patient information day on 29th March 2010 at Queen Square. Patients receiving IvIg and their families came from all over the UK to hear about different aspects of the treatment. Members of the multidisciplinary team at Queen Square were on hand to answer questions and explain the treatment and process. Patients also had the important opportunity to meet other families who were undergoing IvIg treatment.

A second day is planned for 2011.
Year(s) Of Engagement Activity 2010
 
Description Mitochondrial Patient Days 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Participants in your research and patient groups
Results and Impact The centre for neuromuscular diseases held the first mitochondrial patient education and information day on the 15th November 2008 at Queen Square. Mitochondrial patients and their families came from across 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 second mitochondrial patient organisation day took place on 25th November 2009. The University of Newcastle has also held two mitochondrial patient organisation days in
4th July 2009 and on 24th June 2010.

A third mitochondrial patient day is planned for 2011.
Year(s) Of Engagement Activity 2008,2009,2010,2011,2012
 
Description Patient Organisation Days 
Form Of Engagement Activity Participation in an open day or visit at my research institution
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Participants in your research and patient groups
Results and Impact The aim of these meetings is to inform patient organisations about the activities of the centre, and ensure that they can work with the centre to achieve our goal of treating neuromuscular disease.

The area leads give updates on education, imaging, the Biobank, animal models and clinical neuromuscular trials across the UK, followed by the opportunity for questions and discussion. Representatives from over ten patient organisations attended the meetings.



Two patient organisations have part-funded one non-clinical three-year PhD studentship each as a result of these meetings (one CMT project, and one IBM project).
Year(s) Of Engagement Activity 2008,2010,2011,2012