MRC Centre for Neuromuscular Diseases Biobank London: its role in the advancement of rare and neuromuscular diseases research

Neuromuscular diseases are either inherited or acquired conditions that cause muscle wasting and weakness and sensory loss in some forms, which result in disability and in some cases reduced survival. Although much progress has been made in diagnosing these relatively rare conditions, the genetic cause of many remain to be elucidated. Few neuromuscular diseases currently have a cure and there is a need for reliable biomarkers to monitor disease progression and response to treatment. As they are rare and often heterogeneous conditions, it is difficult for researchers to obtain human material crucial for biomedical research. Since its inception in 2008, the MRC Centre for Neuromuscular Diseases Biobank has provided samples that have been vital in facilitating translational research ranging from molecular pathophysiology, drug discovery, clinical trials and evaluation of biomarkers. This has resulted in many high-profile research publications that clearly demonstrate the impact of neuromuscular biobanking for diagnostics, basic and translational research, drug development, and therapy.