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Exp Cell Res. 2014 Jul 1;325(1):44-9. doi: 10.1016/j.yexcr.2013.12.020. Epub 2013 Dec 31.

Biomarkers in rare neuromuscular diseases.

Author information

1
Section of Microbiology and Medical Genetics, Department of Medical Science, University of Ferrara, Ferrara, Italy.
2
Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
3
Section of Microbiology and Medical Genetics, Department of Medical Science, University of Ferrara, Ferrara, Italy. Electronic address: fla@unife.it.

Abstract

Neuromuscular diseases (NMDs) comprise a range of rare disorders that include both hereditary peripheral neuropathies and myopathies. The heterogeneity and rarity of neuromuscular disorders are challenges for researchers seeking to develop effective diagnosis and treatment strategies. In particular, clinical trials of new therapies are made more difficult due to lack of reliable and monitorable clinical outcome measures. Biomarkers could be a way to speed up research in this field, shedding light on the pathophysiological mechanisms behind such diseases and providing invaluable tools for monitoring their progression, prognosis and response to drug treatment. Furthermore, biomarkers could represent a surrogate endpoint for clinical trials, enabling better stratification of patient cohorts through more accurate diagnosis and prognosis prediction. This review summarizes the types, applications, characteristics and best strategies for biomarker discovery to date.

KEYWORDS:

Biomarker discovery; Diagnostic/prognostic biomarker; Neuromuscular diseases; Personalized medicine; Predictive/therapeutic biomarkers

PMID:
24389168
DOI:
10.1016/j.yexcr.2013.12.020
[Indexed for MEDLINE]
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