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Biomarkers of Duchenne muscular dystrophy: current findings
KTH, School of Biotechnology (BIO), Proteomics and Nanobiotechnology. KTH, Centres, Science for Life Laboratory, SciLifeLab.
Leiden Univ, Med Ctr, Dept Human Genet, Albinusdreef 2, NL-2333 AA Leiden, Netherlands..
2018 (English)In: Degenerative Neurological and Neuromuscular Disease, ISSN 1179-9900, Vol. 8, p. 1-13Article, review/survey (Refereed) Published
Abstract [en]

Numerous biomarkers have been unveiled in the rapidly evolving biomarker discovery field, with an aim to improve the clinical management of disorders. In rare diseases, such as Duchenne muscular dystrophy, this endeavor has created a wealth of knowledge that, if effectively exploited, will benefit affected individuals, with respect to health care, therapy, improved quality of life and increased life expectancy. The most promising findings and molecular biomarkers are inspected in this review, with an aim to provide an overview of currently known biomarkers and the technological developments used. Biomarkers as cells, genetic variations, miRNAs, proteins, lipids and/or metabolites indicative of disease severity, progression and treatment response have the potential to improve development and approval of therapies, clinical management of DMD and patients' life quality. We highlight the complexity of translating research results to clinical use, emphasizing the need for biomarkers, fit for purpose and describe the challenges associated with qualifying biomarkers for clinical applications.

Place, publisher, year, edition, pages
Dove Medical Press , 2018. Vol. 8, p. 1-13
Keywords [en]
diagnostic biomarkers, disease monitoring biomarkers, pharmacodynamic biomarkers, surrogate biomarkers, genetic modifiers, proteomic, metabolomic, lipidomic, imaging
National Category
Neurology Neurosciences
Identifiers
URN: urn:nbn:se:kth:diva-226815DOI: 10.2147/DNND.S121099ISI: 000429315100001OAI: oai:DiVA.org:kth-226815DiVA, id: diva2:1201688
Funder
Science for Life Laboratory - a national resource center for high-throughput molecular bioscience
Note

QC 20180426

Available from: 2018-04-26 Created: 2018-04-26 Last updated: 2018-04-26Bibliographically approved

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Szigyarto, Cristina Al-Khalili
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Proteomics and NanobiotechnologyScience for Life Laboratory, SciLifeLab
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CiteExportLink to record
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  • apa
  • harvard1
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