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Lookup NU author(s): Dr Mojgan Reza, Daniel CoxORCiD, Lauren Phillips, Michael Grieves, Rebecca Crow, Dr Andreas Roos, Professor Hanns Lochmuller
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2017 The Authors. 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.
Author(s): Reza M, Cox D, Phillips L, Johnson D, Manoharan V, Grieves M, Davis B, Roos A, Morgan J, Hanna MG, Muntoni F, Lochmuller H
Publication type: Article
Publication status: Published
Journal: Neuromuscular Disorders
Year: 2017
Volume: 27
Issue: 11
Pages: 1054-1064
Print publication date: 01/11/2017
Online publication date: 01/07/2017
Acceptance date: 03/07/2017
Date deposited: 28/09/2017
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
Publisher: Elsevier Ltd
URL: https://doi.org/10.1016/j.nmd.2017.07.001
DOI: 10.1016/j.nmd.2017.07.001
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