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The Mechanistic Implications of Gene Expression Studies in SSc: Insights From Systems Biology

  • Scleroderma (D Khanna, Section Editor)
  • Published:
Current Treatment Options in Rheumatology Aims and scope Submit manuscript

Opinion statement

Purpose of review Systemic sclerosis (SSc) has been difficult to treat due to disease heterogeneity and an incomplete understanding of the molecular mechanisms underlying pathogenesis. Some patients show improvement on existing or experimental therapies while others show no significant response. Due to these challenges, clinical trials often do not meet their primary clinical endpoints. Here we review the data-driven genomewideapproaches that have recently been employed to characterize the molecular changes observed in SSc patients.

Recent findings Understanding an individual patient’s gene expression phenotype or genotype, a cornerstone of personalized medicine, has been proposed to help determine which therapies are most likely to treat their disease. Network and systems biology methods have been applied to the compendium of publicly available SSc data and suggest that there are shared mechanisms driving the disease in different organs. Computational methods have also been applied to meta-analyses of SSc clinical trials. These approaches have led to the prediction of potential combination therapies that target the multiple pathways deregulated in SSc, which can now be tested in the clinic.

Summary Data driven methods to analyze compendia of data are providing additional insights into SSc and related conditions. Modern bioinformatics and systems biology are ecosystems of data and code that are growing exponentially. Data integration allows researchers to combine multiple underpowered studies, a concern in a rare disorder such as SSc, for greater gain.

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Author notes

  1. Jaclyn N. Taroni PhD

    Present address: Department of Systems Pharmacology and Translational Therapeutics, Institute for Translational Medicine and Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

Authors and Affiliations

  1. Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, 7400 Remsen, Hanover, NH, 03755, USA

    Jaclyn N. Taroni PhD & Michael L. Whitfield PhD

  2. Department of Neurological Sciences, University of Vermont College of Medicine, Burlington, VT, USA

    J. Matthew Mahoney PhD

  3. Program in Quantitative Biomedical Sciences, Geisel School of Medicine at Dartmouth, Hanover, NH, 03755, USA

    Michael L. Whitfield PhD

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  1. Jaclyn N. Taroni PhD
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Correspondence to Michael L. Whitfield PhD.

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Jaclyn N. Taroni declares that she has no conflict of interest. J. Matthew Mahoney declares that he has no conflict of interest. Michael L. Whitfield declares that he has no conflict of interest.

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This article does not contain any studies with human or animal subjects performed by any of the authors.

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This article is part of the Topical Collection on Scleroderma

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Taroni, J.N., Mahoney, J.M. & Whitfield, M.L. The Mechanistic Implications of Gene Expression Studies in SSc: Insights From Systems Biology. Curr Treat Options in Rheum 3, 181–192 (2017). https://doi.org/10.1007/s40674-017-0072-0

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  • DOI: https://doi.org/10.1007/s40674-017-0072-0

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