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.
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
- University College London, United Kingdom (Collaboration, Lead Research Organisation)
- The Jackson Laboratory (Collaboration)
- Newcastle University, United Kingdom (Collaboration)
- Edison Pharmaceuticals (Collaboration)
- Muscular Dystrophy UK (Collaboration)
- Imperial Cancer Research Fund (Collaboration)
- Harvard University (Collaboration)
- Great Ormond Street Hospital (GOSH) (Collaboration)
- National Institute of Health and Medical Research (INSERM) (Collaboration)
- AVI Biopharma, Inc (Collaboration)
- Swiss Federal Institute of Technology (ETH), Zurich (Collaboration)
- University of Paris 6, France (Collaboration)
- San Raffaele Hospital (Collaboration)
- University of Nottingham (Collaboration)
- University of Otago, New Zealand (Collaboration)
- University of Oxford, United Kingdom (Collaboration)
- MRC Harwell, United Kingdom (Collaboration)
- Free University of Berlin, Germany (Collaboration)
- Shire Pharmaceuticals (Collaboration)
- GlaxoSmithKline (GSK) (Collaboration)
- Ludwig Maximilians University Munich (Collaboration)
- University of Rochester, United States (Collaboration)
- Medical Research Council (Collaboration)
- Salford Royal NHS Foundation Trust, Greater Manchester (Collaboration)
- Aix-Marseille University, France (Collaboration)
- University Hospital Southampton NHS Foundation Trust, Southampton (Collaboration)
- National Institutes of Health, United States (Collaboration)
- University of Copenhagen, Denmark (Collaboration)
- Senexis Ltd Cambridge (Collaboration)
- Erasmus University Medical Center, Netherlands (Collaboration)
- University of Sussex, United Kingdom (Collaboration)
- Pfizer Ltd (Collaboration)
- Aarhus University, Denmark (Collaboration)
- Newcastle upon Tyne Hospitals NHS Foundation Trust (Collaboration)
- Royal Veterinary College, United Kingdom (Collaboration)
- University of Barcelona, Spain (Collaboration)
- University of Manchester, Manchester, United Kingdom (Collaboration)
- King's College London, United Kingdom (Collaboration)
Publications
Alston CL
(2018)
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
in American journal of human genetics
Alston CL
(2010)
A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle.
in Journal of the neurological sciences
Alston CL
(2016)
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.
in Journal of medical genetics
Alston CL
(2011)
Maternally inherited mitochondrial DNA disease in consanguineous families.
in European journal of human genetics : EJHG
Allamand V
(2010)
166th ENMC International Workshop on Collagen type VI-related Myopathies, 22-24 May 2009, Naarden, The Netherlands.
in Neuromuscular disorders : NMD
Alfadhel M
(2018)
Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.
in European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Akman G
(2016)
Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria.
in Proceedings of the National Academy of Sciences of the United States of America
Akam T
(2010)
Oscillations and filtering networks support flexible routing of information.
in Neuron
Ajitsaria R
(2008)
Uneventful administration of vincristine in Charcot-Marie-Tooth disease type 1X.
in Pediatric blood & cancer
Ahmed M
(2016)
Targeting protein homeostasis in sporadic inclusion body myositis.
in Science translational medicine
| Guideline Title | Clinical Guidelines for Immunoglobulin Use 1st and 2nd Editions, Demand Management Plan for Immunoglobulins and National IVIG Database |
| Description | Clinical Guidelines for Immunoglobulin Use 1st and 2nd Editions |
| Geographic Reach | National |
| Policy Influence Type | Citation in clinical guidelines |
| Impact | Evidence based clinical guidelines for the use of immunoglobulin in England and Wales which have influenced prescribing and use of valuable IVIG resource. The demand management plan has secured a supply of IVIG nationally and secured supply for those for whom it is crucial to survival in times of shortage. The database has provided use and contracting/purchasing information to secure IVIG supply nationally. It is providing data on responsiveness of patients to IVIG in all indications. |
| Description | DoH Clinical Guidelines for Immunogloblin Use 1st and 2nd Editions, DoH Demand Management Plan for Immunoglobulins, DoH National IVIG Database |
| Geographic Reach | National |
| Policy Influence Type | Citation in other policy documents |
| Impact | Department of Health policy documents. |
| Description | National IVIG guideline consultation |
| Geographic Reach | National |
| Policy Influence Type | Participation in a national consultation |
| Impact | Guideline consultation was national and included deputations from all major IVIG interested specialties and users. This influence retained appropriate use of IVIG for diseases where it is effective and maintains IVIG supply nationally. |
| Description | National IVIG prescribing and use guidelines and monitoring committtee and database monitoring committee |
| Geographic Reach | National |
| Policy Influence Type | Membership of a guidance committee |
| Impact | Maintaining the database data and the clinical guidelines. |
| Description | Orphan drugs |
| Geographic Reach | National |
| Policy Influence Type | Gave evidence to a government review |
| Impact | Professor Dimitri Kullmann contributed to an open letter to the Prime Minister raising awareness of an unexpected consequence of the European Union's regulations on orphan drugs, which has resulted in a 50-fold increase in the price of 3,4-diaminopyridine, used in the treatment of Lambert-Eaton Myasthenic Syndrome and Congenital Mysathenic Syndromes. Cited in BMJ 2010; 341:c6466. |
| Description | Various citations in scientific clinical reviews |
| Geographic Reach | National |
| Policy Influence Type | Citation in clinical reviews |
| Impact | Clinical reviews influence prescribing and practice of clinicians at all levels and raise awareness of the limitations of IVIG availability and use. |
| Description | - Using Next Generation Sequencing to investigate neuromuscular disorders |
| Amount | £320,000 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | |
| Description | 065374/Z/01/Z London Pain Consortium (£5.4m across 4 participating centres) |
| Amount | £1,366,109 (GBP) |
| Funding ID | 065374/Z/01/Z |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | A next generation sequencer for the Institute of Neurology. Capital bid |
| Amount | £339,000 (GBP) |
| Organisation | National Institute for Health Research |
| Department | UCLH/UCL Biomedical Research Centre |
| Sector | Public |
| Country | United Kingdom |
| Start | |
| Description | A next generation sequencer for the Institute of Neurology. Equipment Gran |
| Amount | £661,363 (GBP) |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | AFM Project Grant |
| Amount | £29,118 (GBP) |
| Organisation | French Muscular Dystrophy Association (AFM) |
| Sector | Charity/Non Profit |
| Country | France |
| Start | 06/2010 |
| End | 05/2011 |
| Description | AFM Project Grant |
| Amount | £271,911 (GBP) |
| Organisation | French Muscular Dystrophy Association (AFM) |
| Sector | Charity/Non Profit |
| Country | France |
| Start | 04/2011 |
| End | 03/2015 |
| Description | AFM Project Grant |
| Amount | £28,367 (GBP) |
| Organisation | French Muscular Dystrophy Association (AFM) |
| Sector | Charity/Non Profit |
| Country | France |
| Start | 04/2011 |
| End | 03/2012 |
| Description | ART Project Grant |
| Amount | £25,084 (GBP) |
| Organisation | Alzheimer's Research UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 01/2011 |
| End | 07/2011 |
| Description | Advanced Grant/European Research Council |
| Amount | £2,126,000 (GBP) |
| Organisation | European Research Council (ERC) |
| Sector | Public |
| Country | European Union (EU) |
| Start | 01/2009 |
| End | 12/2009 |
| Description | Alzheimer's Research UK- Pilot Project Grant |
| Amount | £30,000 (GBP) |
| Organisation | Alzheimer's Research UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 03/2012 |
| End | 08/2013 |
| Description | Arthritis Research Campaign (ARC) - Project Grant |
| Amount | £133,413 (GBP) |
| Funding ID | 19255 |
| Organisation | Versus Arthritis |
| Start | |
| Description | BBSRC Partnership CASE Studentship |
| Amount | £144,000 (GBP) |
| Organisation | GlaxoSmithKline (GSK) |
| Sector | Private |
| Country | Global |
| Start | 09/2011 |
| End | 08/2015 |
| Description | BHF - Clinical Trial Grant |
| Amount | £350,000 (GBP) |
| Organisation | British Heart Foundation (BHF) |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | BIO-NMD Identifying and validating pre-clinical biomarkers for diagnostics and therapeutics of Neuromuscular Disorders (5.6m euros across 12 participants) |
| Amount | £576,521 (GBP) |
| Funding ID | 241665 |
| Organisation | European Commission |
| Sector | Public |
| Country | European Union (EU) |
| Start | 12/2009 |
| End | 11/2012 |
| Description | CLRN Bridging Grant |
| Amount | £108,000 (GBP) |
| Organisation | National Institute for Health Research |
| Sector | Public |
| Country | United Kingdom |
| Start | 01/2011 |
| End | 05/2012 |
| Description | CLRN Contingency Funding |
| Amount | £60,004 (GBP) |
| Organisation | National Institute for Health Research |
| Sector | Public |
| Country | United Kingdom |
| Start | 02/2011 |
| End | 05/2012 |
| Description | CLRN Contingency Funding |
| Amount | £66,641 (GBP) |
| Organisation | National Institute for Health Research |
| Sector | Public |
| Country | United Kingdom |
| Start | 07/2010 |
| End | 07/2012 |
| Description | CLRN Contingency Funding |
| Amount | £67,540 (GBP) |
| Organisation | National Institute for Health Research |
| Sector | Public |
| Country | United Kingdom |
| Start | 07/2010 |
| End | 07/2012 |
| Description | CLRN contingency funding |
| Amount | £103,000 (GBP) |
| Organisation | National Institute for Health Research |
| Sector | Public |
| Country | United Kingdom |
| Start | 01/2011 |
| End | 12/2013 |
| Description | CMT UK - Impact PhD studentship scheme /CMT UK |
| Amount | £30,000 (GBP) |
| Organisation | CMT United Kingdom |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Centre Grant |
| Amount | £598,527 (GBP) |
| Organisation | National Institute for Health Research |
| Sector | Public |
| Country | United Kingdom |
| Start | 01/2007 |
| End | 12/2012 |
| Description | Centre Grant |
| Amount | £1,200,000 (GBP) |
| Organisation | Biotechnology and Biological Sciences Research Council (BBSRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | 01/2008 |
| End | 12/2013 |
| Description | Centre Grant |
| Amount | £1,200,000 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | 01/2008 |
| End | 12/2013 |
| Description | Centre Grant |
| Amount | £1,200,000 (GBP) |
| Organisation | Economic and Social Research Council |
| Sector | Public |
| Country | United Kingdom |
| Start | 01/2008 |
| End | 12/2013 |
| Description | Centre Grant |
| Amount | £1,200,000 (GBP) |
| Organisation | Engineering and Physical Sciences Research Council (EPSRC) |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | 01/2008 |
| End | 12/2013 |
| Description | Centre Grant |
| Amount | £106,363 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 01/2008 |
| End | 12/2010 |
| Description | Clinical Research Associates x2 |
| Amount | £60,000 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 06/2016 |
| End | 04/2017 |
| Description | Clinical Research Career Development Fellowship: Skeletal muscle channelopathies - severe infantile phneotypes and sudden infant death syndrome |
| Amount | £283,711 (GBP) |
| Funding ID | 209583 |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 05/2018 |
| End | 04/2020 |
| Description | Clinical Research Facility |
| Amount | £3,500,000 (GBP) |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 01/2007 |
| End | 12/2011 |
| Description | Clinical Research Fellowship in mitochondrial diseases |
| Amount | £230,314 (GBP) |
| Organisation | Clore Duffield Foundation |
| Start | 06/2018 |
| End | 05/2021 |
| Description | Clinical Research Training Fellowship |
| Amount | £247,107 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | 09/2010 |
| End | 08/2013 |
| Description | Clinical Trial |
| Amount | $214,235 (USD) |
| Organisation | Food and Drug Administration (FDA) |
| Sector | Public |
| Country | United States |
| Start | 01/2018 |
| End | 12/2021 |
| Description | Clinical Trials Support Officer |
| Amount | £43,770 (GBP) |
| Organisation | National Institute for Health Research |
| Sector | Public |
| Country | United Kingdom |
| Start | 11/2010 |
| End | 11/2012 |
| Description | Cooperative Grant |
| Amount | £353,000 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | 01/2006 |
| End | 12/2009 |
| Description | Equipment Grant |
| Amount | £246,000 (GBP) |
| Organisation | Foreign and Commonwealth Office (FCO) |
| Sector | Public |
| Country | United Kingdom |
| Start | 01/2009 |
| End | 12/2009 |
| Description | Equipment Grant |
| Amount | £661,363 (GBP) |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 09/2011 |
| End | 08/2016 |
| Description | FP7 |
| Amount | £428,000 (GBP) |
| Organisation | European Commission |
| Department | Seventh Framework Programme (FP7) |
| Sector | Public |
| Country | European Union (EU) |
| Start | 01/2011 |
| End | 12/2016 |
| Description | FP7 Neuromics |
| Amount | € 12,000,000 (EUR) |
| Organisation | European Commission |
| Sector | Public |
| Country | European Union (EU) |
| Start | 11/2012 |
| End | 09/2016 |
| Description | FP7 collaborative project |
| Amount | £310,000 (GBP) |
| Organisation | European Commission |
| Department | Seventh Framework Programme (FP7) |
| Sector | Public |
| Country | European Union (EU) |
| Start | 04/2008 |
| End | 03/2012 |
| Description | ICE Project Grant |
| Amount | £100,000 (GBP) |
| Organisation | International Collaborative Effort for DMD |
| Sector | Academic/University |
| Country | Global |
| Start | 01/2011 |
| End | 12/2012 |
| Description | Industrial Collaboration (AVI Biopharma) |
| Amount | £86,019 (GBP) |
| Organisation | Sarepta Therapeutics Inc. |
| Sector | Private |
| Country | United States |
| Start | 09/2010 |
| End | 09/2011 |
| Description | Industrial Collaboration (Pfizer) |
| Amount | £69,701 (GBP) |
| Organisation | Pfizer Ltd |
| Sector | Private |
| Country | United Kingdom |
| Start | 11/2010 |
| End | 11/2011 |
| Description | Jain Foundation Project Grant |
| Amount | £107,667 (GBP) |
| Organisation | Jain Foundation |
| Sector | Charity/Non Profit |
| Country | United States |
| Start | 07/2011 |
| End | 06/2014 |
| Description | Lentivirally-modified stem cells to treat Duchenne muscular dysrophy |
| Amount | £1,215,192 (GBP) |
| Funding ID | G0900872 |
| Organisation | Medical Research Council (MRC) |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | 06/2010 |
| End | 05/2013 |
| Description | Lily foundation Project Grant |
| Amount | £100,000 (GBP) |
| Organisation | The Lily Foundation |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 11/2011 |
| End | 10/2013 |
| Description | Lily-Stoneygate Research Awards Programme |
| Amount | £83,686 (GBP) |
| Organisation | The Lily Foundation |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 08/2017 |
| End | 10/2018 |
| Description | MDC Centre Grant |
| Amount | £140,000 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 01/2011 |
| End | 12/2013 |
| Description | MDC PhD Studentship |
| Amount | £75,173 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 10/2011 |
| End | 08/2014 |
| Description | MDC Project Grant |
| Amount | £126,000 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 01/2011 |
| End | 12/2015 |
| Description | MRC - Exercise training and assessment laboratory |
| Amount | £754,000 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | |
| Description | MRC - Project Grant |
| Amount | £138,347 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | 01/2010 |
| End | 12/2010 |
| Description | MRC - Project Grant |
| Amount | £914,995 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | 02/2008 |
| End | 01/2011 |
| Description | MRC Clinical Research Training Fellowship |
| Amount | £180,267 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | 09/2010 |
| End | 08/2013 |
| Description | MRC Strategic Award to establish an international centre for genomic medicine in neuromuscular diseases |
| Amount | £3,139,610 (GBP) |
| Funding ID | MR/S005021/1 |
| Organisation | Medical Research Council (MRC) |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | 06/2019 |
| End | 05/2024 |
| Description | MRC Technologies Project Grant |
| Amount | £154,658 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | 01/2009 |
| End | 12/2010 |
| Description | MYOPROSP Consortium |
| Amount | £66,301 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | |
| Description | Medical Research Council - Patient Cohort |
| Amount | £269,400 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | |
| Description | Motor Neurone Disease Association Fisher - PhD studentship |
| Amount | £110,000 (GBP) |
| Organisation | Motor Neurone Disease Association (MND) |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 10/2011 |
| End | 09/2014 |
| Description | Muscular Dystrophy Association (USA) - Development Grant/Muscular Dystrophy Association (USA) |
| Amount | £116,759 (GBP) |
| Organisation | Muscular Dystrophy Association |
| Sector | Charity/Non Profit |
| Country | United States |
| Start | |
| Description | Muscular Dystrophy Campaign Project Grant |
| Amount | £210,601 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Muscular Dystrophy Campaign Project Grant |
| Amount | £117,802 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | NHS Trust Project Grant |
| Amount | £35,157 (GBP) |
| Organisation | Newcastle upon Tyne Hospitals NHS Foundation Trust |
| Sector | Public |
| Country | United Kingdom |
| Start | 10/2011 |
| End | 09/2012 |
| Description | NIHR - Doctoral Research Training Fellowship |
| Amount | £333,790 (GBP) |
| Organisation | National Institute for Health Research |
| Sector | Public |
| Country | United Kingdom |
| Start | |
| Description | NIHR Senior Investigator |
| Amount | £45,000 (GBP) |
| Organisation | National Institute for Health Research |
| Sector | Public |
| Country | United Kingdom |
| Start | 04/2011 |
| End | 03/2014 |
| Description | NIHR Senior Investigator Award |
| Amount | £75,000 (GBP) |
| Organisation | National Institute for Health Research |
| Sector | Public |
| Country | United Kingdom |
| Start | 01/2008 |
| End | 12/2013 |
| Description | National Institutes of Health (USA) - Project Grant |
| Amount | £8,434,670 (GBP) |
| Organisation | National Institutes of Health (NIH) |
| Sector | Public |
| Country | United States |
| Start | 01/2010 |
| End | 12/2015 |
| Description | National Institutes of Health (USA) - RDCRC Grant |
| Amount | £5,189,294 (GBP) |
| Organisation | National Institutes of Health (NIH) |
| Sector | Public |
| Country | United States |
| Start | |
| Description | National Specialist Commissioning Service - Muscle channels disease service - Amount is per annum |
| Amount | £1,200,000 (GBP) |
| Organisation | National Institute for Health Research |
| Sector | Public |
| Country | United Kingdom |
| Start | |
| Description | Neuromuscular Disease Theme |
| Amount | £398,514 (GBP) |
| Organisation | National Institute for Health Research |
| Department | UCLH/UCL Biomedical Research Centre |
| Sector | Public |
| Country | United Kingdom |
| Start | 06/2017 |
| End | 05/2021 |
| Description | Patrick Bertoud Fellowship/Charities Aid Foundation |
| Amount | £115,000 (GBP) |
| Organisation | Charities Aid Foundation |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 01/2008 |
| End | 01/2009 |
| Description | PhD Studentship |
| Amount | £110,000 (GBP) |
| Organisation | Motor Neurone Disease Association (MND) |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 09/2011 |
| End | 08/2014 |
| Description | PhD Studentship |
| Amount | £110,000 (GBP) |
| Organisation | Motor Neurone Disease Association (MND) |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 09/2011 |
| End | 08/2014 |
| Description | PhD Studentship |
| Amount | £84,000 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 04/2011 |
| End | 03/2015 |
| Description | PhD Studentship |
| Amount | £80,000 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | 09/2009 |
| End | 07/2012 |
| Description | PhD Studentship |
| Amount | £70,000 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 09/2010 |
| End | 08/2013 |
| Description | PhD Studentship/Brain Research Trust |
| Amount | £60,000 (GBP) |
| Organisation | Brain Research Trust (BRT) |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 09/2008 |
| End | 08/2011 |
| Description | PhD Studentship/Child Health Research Appeal Trust |
| Amount | £64,350 (GBP) |
| Organisation | The Child Care Action Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 09/2009 |
| End | 07/2012 |
| Description | PhD studentship |
| Amount | £67,793 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 09/2010 |
| End | 07/2014 |
| Description | PhD studentship |
| Amount | £50,000 (GBP) |
| Organisation | Biotechnology and Biological Sciences Research Council (BBSRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | 09/2010 |
| End | 07/2014 |
| Description | Pilot 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 | Post-doctoral Fellowship/Muscular Dystrophy Association (USA) |
| Amount | £350,000 (GBP) |
| Organisation | Muscular Dystrophy Association |
| Sector | Charity/Non Profit |
| Country | United States |
| Start | 09/2010 |
| End | 07/2013 |
| Description | Programme Grant |
| Amount | £968,683 (GBP) |
| Organisation | European Commission |
| Sector | Public |
| Country | European Union (EU) |
| Start | |
| Description | Programme Grant (Signals that control cell fate and plasticity in the Schwann cell lineage) Jessen and Mirsky |
| Amount | £996,727 (GBP) |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 10/2004 |
| End | 06/2011 |
| 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 | £124,200 (GBP) |
| Organisation | Monaco Association against Duchenne Muscular Dystrophy |
| Sector | Charity/Non Profit |
| Country | Monaco |
| Start | 01/2008 |
| End | 12/2010 |
| Description | Project Grant |
| 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 | £96,884 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | £242,321 (GBP) |
| Organisation | Biochemical Society |
| Sector | Learned Society |
| 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 | £1,008,392 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | 01/2009 |
| End | 12/2012 |
| Description | Project Grant |
| Amount | £403,876 (GBP) |
| Organisation | National Centre for the Replacement, Refinement and Reduction of Animals in Research (NC3Rs) |
| Sector | Private |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | £320,000 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | 07/2011 |
| End | 06/2014 |
| 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 | £778,157 (GBP) |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 01/2007 |
| End | 12/2012 |
| Description | Project Grant |
| Amount | £99,397 (GBP) |
| Organisation | Epilepsy Research UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 01/2009 |
| End | 12/2011 |
| Description | Project Grant |
| Amount | £51,000 (GBP) |
| Organisation | French Muscular Dystrophy Association (AFM) |
| Sector | Charity/Non Profit |
| Country | France |
| Start | 01/2009 |
| End | 12/2010 |
| 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 | £196,896 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 01/2008 |
| End | 12/2011 |
| Description | Project Grant |
| Amount | £153,502 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 01/2007 |
| End | 12/2010 |
| Description | Project Grant |
| Amount | £68,000 (GBP) |
| Organisation | Thierry Latran Foundation |
| Sector | Charity/Non Profit |
| Country | France |
| Start | 01/2010 |
| End | 12/2012 |
| Description | Project Grant |
| Amount | £13,640 (GBP) |
| Organisation | French Muscular Dystrophy Association (AFM) |
| Sector | Charity/Non Profit |
| Country | France |
| Start | |
| Description | Project Grant |
| Amount | £31,000 (GBP) |
| Organisation | French Muscular Dystrophy Association (AFM) |
| Sector | Charity/Non Profit |
| Country | France |
| Start | 01/2009 |
| End | 12/2010 |
| Description | Project Grant |
| Amount | £22,000 (GBP) |
| Organisation | French Muscular Dystrophy Association (AFM) |
| Sector | Charity/Non Profit |
| Country | France |
| Start | 01/2008 |
| End | 12/2010 |
| 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 |
| Amount | £33,457 (GBP) |
| Organisation | French Muscular Dystrophy Association (AFM) |
| Sector | Charity/Non Profit |
| Country | France |
| Start | |
| Description | Project Grant |
| Amount | £50,000 (GBP) |
| Organisation | Action Duchenne |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 01/2008 |
| End | 12/2009 |
| Description | Project Grant |
| Amount | £160,000 (GBP) |
| Organisation | Muscular Dystrophy Association |
| Sector | Charity/Non Profit |
| Country | United States |
| Start | 01/2011 |
| End | 12/2013 |
| Description | Project Grant |
| Amount | £579,316 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | 01/2010 |
| End | 12/2013 |
| 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 | £320,000 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | 01/2011 |
| End | 01/2014 |
| Description | Project Grant |
| Amount | £124,359 (GBP) |
| Organisation | Heart Research UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 01/2010 |
| 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 | £47,000 (GBP) |
| Organisation | French Muscular Dystrophy Association (AFM) |
| Sector | Charity/Non Profit |
| Country | France |
| Start | 01/2009 |
| End | 12/2010 |
| Description | Project Grant |
| Amount | £19,000 (GBP) |
| Organisation | French Muscular Dystrophy Association (AFM) |
| Sector | Charity/Non Profit |
| Country | France |
| Start | 01/2007 |
| End | 12/2008 |
| 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 | £1,189,000 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | 01/2010 |
| End | 12/2013 |
| Description | Project Grant |
| Amount | £80,000 (GBP) |
| Organisation | Thierry Latran Foundation |
| Sector | Charity/Non Profit |
| Country | France |
| Start | 01/2009 |
| End | 12/2010 |
| Description | Project Grant |
| Amount | £62,000 (GBP) |
| Organisation | Merck |
| Sector | Private |
| Country | Germany |
| Start | 01/2008 |
| End | 12/2009 |
| Description | Project Grant |
| Amount | £150,000 (GBP) |
| Organisation | Action Medical Research |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 01/2008 |
| End | 12/2010 |
| Description | Project Grant |
| Amount | £68,000 (GBP) |
| Organisation | Thierry Latran Foundation |
| Sector | Charity/Non Profit |
| Country | France |
| Start | 07/2010 |
| Description | Project Grant |
| Amount | £133,790 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | 01/2009 |
| End | 12/2010 |
| Description | Project Grant |
| Amount | £497,024 (GBP) |
| Organisation | Versus Arthritis |
| Start | 01/2010 |
| End | 12/2013 |
| Description | Project Grant |
| Amount | £124,200 (GBP) |
| Organisation | Duchenne Parent Project France (DPPF) |
| Sector | Charity/Non Profit |
| Country | France |
| Start | 01/2008 |
| End | 12/2010 |
| Description | Project Grant |
| Amount | £31,923 (GBP) |
| Organisation | Action Duchenne |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | |
| Description | Project Grant |
| Amount | £46,000 (GBP) |
| Organisation | French Muscular Dystrophy Association (AFM) |
| Sector | Charity/Non Profit |
| Country | France |
| Start | 01/2011 |
| End | 12/2013 |
| Description | Project Grant |
| Amount | £1,110,785 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | 01/2008 |
| End | 12/2011 |
| Description | Project Grant |
| Amount | £80,429 (GBP) |
| Organisation | Heart Research UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 01/2006 |
| End | 12/2009 |
| 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 | £160,390 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 01/2008 |
| End | 12/2011 |
| Description | Project Grant |
| Amount | £130,000 (GBP) |
| Organisation | National Institutes of Health (NIH) |
| Sector | Public |
| Country | United States |
| Start | |
| Description | Project Grant |
| Amount | £275,000 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 01/2007 |
| End | 12/2010 |
| 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 | £85,000 (GBP) |
| Organisation | Thierry Latran Foundation |
| Sector | Charity/Non Profit |
| Country | France |
| Start | |
| 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/Arthitis Research Campaign |
| Amount | £133,414 (GBP) |
| Organisation | Versus Arthritis |
| Start | |
| 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/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/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 | £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 |
| Amount | £2,468,621 (GBP) |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 01/2011 |
| End | 12/2013 |
| 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 | £22,367 (GBP) |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 06/2010 |
| End | 05/2012 |
| 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 | 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 |