进军精准医学治疗自身免疫性疾病:利用基因组研究更好地诊断和治疗复杂疾病

Cambridge prisms, Precision medicine Pub Date : 2023-05-11 eCollection Date: 2023-01-01 DOI:10.1017/pcm.2023.14
Yuriy Baglaenko, Catriona Wagner, Vijay G Bhoj, Petter Brodin, M Eric Gershwin, Daniel Graham, Pietro Invernizzi, Kenneth K Kidd, Ilya Korsunsky, Michael Levy, Andrew L Mammen, Victor Nizet, Francisco Ramirez-Valle, Edward C Stites, Marc S Williams, Michael Wilson, Noel R Rose, Virginia Ladd, Marina Sirota
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引用次数: 0

摘要

精准医学是一种新兴的疾病治疗和预防方法,它考虑了基因、环境和生活方式的个体差异
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Making inroads to precision medicine for the treatment of autoimmune diseases: Harnessing genomic studies to better diagnose and treat complex disorders.

Precision Medicine is an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle. Autoimmune diseases are those in which the body's natural defense system loses discriminating power between its own cells and foreign cells, causing the body to mistakenly attack healthy tissues. These conditions are very heterogeneous in their presentation and therefore difficult to diagnose and treat. Achieving precision medicine in autoimmune diseases has been challenging due to the complex etiologies of these conditions, involving an interplay between genetic, epigenetic, and environmental factors. However, recent technological and computational advances in molecular profiling have helped identify patient subtypes and molecular pathways which can be used to improve diagnostics and therapeutics. This review discusses the current understanding of the disease mechanisms, heterogeneity, and pathogenic autoantigens in autoimmune diseases gained from genomic and transcriptomic studies and highlights how these findings can be applied to better understand disease heterogeneity in the context of disease diagnostics and therapeutics.

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