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Biomarkers of Duchenne muscular dystrophy: current findings

Authors Al-Khalili Szigyarto C, Spitali P

Received 31 August 2017

Accepted for publication 24 November 2017

Published 25 January 2018 Volume 2018:8 Pages 1—13


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Prof. Dr. Thomas Müller

Video abstract presented by Cristina Al-Khalili Szigyarto

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Cristina Al-Khalili Szigyarto,1,2 Pietro Spitali3

1Division of Proteomics, School of Biotechnology, AlbaNova University Center, KTH-Royal Institute of Technology, Stockholm, Sweden, 2Science for Life Laboratory, KTH-Royal Institute of Technology, Stockholm, Sweden; 3Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands

Abstract: 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.

Keywords: diagnostic biomarkers, disease monitoring biomarkers, pharmacodynamic ­biomarkers, surrogate biomarkers, genetic modifiers, proteomic, metabolomic, lipidomic, imaging

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