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Duchenne Muscular Dystrophy : recent advances in protein biomarkers and the clinical application
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- Al-Khalili Szigyarto, Cristina (author)
- KTH,Systembiologi,Science for Life Laboratory, SciLifeLab
- (creator_code:org_t)
- 2020-07-26
- 2020
- English.
- In: Expert Review of Proteomics. - : Informa UK Limited. - 1478-9450 .- 1744-8387. ; 17:5, s. 365-375
- Research review (peer-reviewed)
Abstract
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- Introduction Early biomarker discovery studies have praised the value of their emerging results, predicting an unprecedented impact on health care. Biomarkers are expected to provide tests with increased specificity and sensitivity compared to existing measures, improve the decision-making process, and accelerate the development of therapies. For rare disorders, like Duchenne Muscular Dystrophy (DMD) such biomarkers can assist the development of therapies, therefore also helping to find a cure for the disease. Area covered State-of-the-art technologies have been used to identify blood biomarkers for DMD and efforts have been coordinated to develop and promote translation of biomarkers for clinical practice. Biomarker translation to clinical practice is however, adjoined by challenges related to the complexity of the disease, involving numerous biological processes, and the limited sample resources. This review highlights the current progress on the development of biomarkers, describing the proteomics technologies used, the most promising findings and the challenges encountered. Expert opinion Strategies for effective use of samples combined with orthogonal proteomics methods for protein quantification are essential for translating biomarkers to the patient's bed side. Progress is achieved only if strong evidence is provided that the biomarker constitutes a reliable indicator of the patient's health status for a specific context of use.
Keyword
- Protein biomarkers
- biomarker validation
- Duchenne Muscular Dystrophy
- rare diseases
- serum
- plasma
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