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Moving towards a molecular taxonomy of autoimmune rheumatic diseases
Nature Reviews Rheumatology ( IF 29.4 ) Pub Date : 2018-01-24 , DOI: 10.1038/nrrheum.2017.220
Guillermo Barturen , Lorenzo Beretta , Ricard Cervera , Ronald Van Vollenhoven , Marta E. Alarcón-Riquelme

Autoimmune rheumatic diseases pose many problems that have, in general, already been solved in the field of cancer. The heterogeneity of each disease, the clinical similarities and differences between different autoimmune rheumatic diseases and the large number of patients that remain without a diagnosis underline the need to reclassify these diseases via new approaches. Knowledge about the molecular basis of systemic autoimmune diseases, along with the availability of bioinformatics tools capable of handling and integrating large volumes of various types of molecular data at once, offer the possibility of reclassifying these diseases. A new taxonomy could lead to the discovery of new biomarkers for patient stratification and prognosis. Most importantly, this taxonomy might enable important changes in clinical trial design to reach the expected outcomes or the design of molecularly targeted therapies. In this Review, we discuss the basis for a new molecular taxonomy for autoimmune rheumatic diseases. We highlight the evidence surrounding the idea that these diseases share molecular features related to their pathogenesis and development and discuss previous attempts to classify these diseases. We evaluate the tools available to analyse and combine different types of molecular data. Finally, we introduce PRECISESADS, a project aimed at reclassifying the systemic autoimmune diseases.



中文翻译:

迈向自身免疫性风湿性疾病的分子分类学

自身免疫性风湿性疾病带来了许多问题,这些问题通常在癌症领域已得到解决。每种疾病的异质性,不同的自身免疫性风湿性疾病之间的临床相似性和差异以及仍有大量未诊断的患者,强调了需要通过新方法对这些疾病进行重新分类。关于系统性自身免疫疾病的分子基础的知识,以及能够同时处理和整合大量各种类型分子数据的生物信息学工具的可用性,提供了对这些疾病进行重新分类的可能性。一种新的分类法可能会导致发现用于患者分层和预后的新生物标志物。最重要的是,这种分类法可能会使临床试验设计发生重大变化,以达到预期结果或分子靶向疗法的设计。在这篇综述中,我们讨论了针对自身免疫性风湿性疾病的新分子分类学的基础。我们强调了围绕这些疾病共享与其发病机制和发展相关的分子特征的想法的证据,并讨论了对这些疾病进行分类的先前尝试。我们评估可用于分析和组合不同类型的分子数据的工具。最后,我们介绍PRECISESADS,这是一个旨在对系统性自身免疫疾病进行重新分类的项目。我们强调了围绕这些疾病共享与其发病机制和发展相关的分子特征的想法的证据,并讨论了对这些疾病进行分类的先前尝试。我们评估可用于分析和组合不同类型的分子数据的工具。最后,我们介绍PRECISESADS,这是一个旨在对系统性自身免疫疾病进行重新分类的项目。我们强调了围绕这些疾病共享与其发病机制和发展相关的分子特征的想法的证据,并讨论了对这些疾病进行分类的先前尝试。我们评估可用于分析和组合不同类型的分子数据的工具。最后,我们介绍PRECISESADS,这是一个旨在对系统性自身免疫疾病进行重新分类的项目。

更新日期:2018-01-24
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