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MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide
Neuromuscular diseases are both genetic and acquired conditions resulting in progressive muscle weakness and wasting which lead to disability and reduced survival. The availability of high-quality human biomaterial is crucial to support biomedical research with potential applications at all stages o...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Pergamon Press
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5678293/ https://www.ncbi.nlm.nih.gov/pubmed/28864117 http://dx.doi.org/10.1016/j.nmd.2017.07.001 |
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author | Reza, Mojgan Cox, Daniel Phillips, Lauren Johnson, Diana Manoharan, Vaishnavi Grieves, Michael Davis, Becky Roos, Andreas Morgan, Jennifer Hanna, Michael G. Muntoni, Francesco Lochmüller, Hanns |
author_facet | Reza, Mojgan Cox, Daniel Phillips, Lauren Johnson, Diana Manoharan, Vaishnavi Grieves, Michael Davis, Becky Roos, Andreas Morgan, Jennifer Hanna, Michael G. Muntoni, Francesco Lochmüller, Hanns |
author_sort | Reza, Mojgan |
collection | PubMed |
description | Neuromuscular diseases are both genetic and acquired conditions resulting in progressive muscle weakness and wasting which lead to disability and reduced survival. The availability of high-quality human biomaterial is crucial to support biomedical research with potential applications at all stages of development, from molecular pathophysiology to drug discovery, clinical trials and evaluation of biomarkers. Although significant progress has been made over the last few years in the diagnosis of these rare conditions, the genetic defect and underlying pathological abnormality remain unknown in approximately 1/3 of cases. Moreover, to date no definitive cure is available for most neuromuscular disorders, nor are there sufficiently reliable and specific biomarkers to monitor disease progression and response to treatment. This is in part due to the rarity and genetic heterogeneity of neuromuscular diseases and the lack of access to patient samples. The availability of the national MRC Centre Biobank for Neuromuscular Diseases in Newcastle and London has addressed this bottleneck and supported neuromuscular research. Nine years after the establishment of the MRC Centre Biobank, many high profile research publications have highlighted the positive impact of neuromuscular biobanking for translational research and proven this facility to be a unique repository source for diagnostics, basic science research, industry, drug development, and therapy. |
format | Online Article Text |
id | pubmed-5678293 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Pergamon Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-56782932017-11-20 MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide Reza, Mojgan Cox, Daniel Phillips, Lauren Johnson, Diana Manoharan, Vaishnavi Grieves, Michael Davis, Becky Roos, Andreas Morgan, Jennifer Hanna, Michael G. Muntoni, Francesco Lochmüller, Hanns Neuromuscul Disord Article Neuromuscular diseases are both genetic and acquired conditions resulting in progressive muscle weakness and wasting which lead to disability and reduced survival. The availability of high-quality human biomaterial is crucial to support biomedical research with potential applications at all stages of development, from molecular pathophysiology to drug discovery, clinical trials and evaluation of biomarkers. Although significant progress has been made over the last few years in the diagnosis of these rare conditions, the genetic defect and underlying pathological abnormality remain unknown in approximately 1/3 of cases. Moreover, to date no definitive cure is available for most neuromuscular disorders, nor are there sufficiently reliable and specific biomarkers to monitor disease progression and response to treatment. This is in part due to the rarity and genetic heterogeneity of neuromuscular diseases and the lack of access to patient samples. The availability of the national MRC Centre Biobank for Neuromuscular Diseases in Newcastle and London has addressed this bottleneck and supported neuromuscular research. Nine years after the establishment of the MRC Centre Biobank, many high profile research publications have highlighted the positive impact of neuromuscular biobanking for translational research and proven this facility to be a unique repository source for diagnostics, basic science research, industry, drug development, and therapy. Pergamon Press 2017-11 /pmc/articles/PMC5678293/ /pubmed/28864117 http://dx.doi.org/10.1016/j.nmd.2017.07.001 Text en © 2017 The Authors http://creativecommons.org/licenses/by/4.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Reza, Mojgan Cox, Daniel Phillips, Lauren Johnson, Diana Manoharan, Vaishnavi Grieves, Michael Davis, Becky Roos, Andreas Morgan, Jennifer Hanna, Michael G. Muntoni, Francesco Lochmüller, Hanns MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide |
title | MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide |
title_full | MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide |
title_fullStr | MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide |
title_full_unstemmed | MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide |
title_short | MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide |
title_sort | mrc centre neuromuscular biobank (newcastle and london): supporting and facilitating rare and neuromuscular disease research worldwide |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5678293/ https://www.ncbi.nlm.nih.gov/pubmed/28864117 http://dx.doi.org/10.1016/j.nmd.2017.07.001 |
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