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Neuromuscul Disord. 2017 Nov;27(11):1054-1064. doi: 10.1016/j.nmd.2017.07.001. Epub 2017 Jul 10.

MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide.

Author information

1
John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
2
Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health, London, UK.
3
National Hospital for Neurology & Neurosurgery, UCL, Queen Square, London, UK.
4
John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK. Electronic address: hanns.lochmuller@ncl.ac.uk.

Abstract

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.

KEYWORDS:

BBMRI; Biobanking; Neuromuscular Diseases; RD-Connect

PMID:
28864117
PMCID:
PMC5678293
DOI:
10.1016/j.nmd.2017.07.001
[Indexed for MEDLINE]
Free PMC Article

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