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精准医学在神经退行性疾病中的应用。

Application of Precision Medicine in Neurodegenerative Diseases.

作者信息

Strafella Claudia, Caputo Valerio, Galota Maria R, Zampatti Stefania, Marella Gianluca, Mauriello Silvestro, Cascella Raffaella, Giardina Emiliano

机构信息

Department of Biomedicine and Prevention, Tor Vergata University, Rome, Italy.

Emotest Laboratory, Pozzuoli, Italy.

出版信息

Front Neurol. 2018 Aug 23;9:701. doi: 10.3389/fneur.2018.00701. eCollection 2018.

Abstract

One of the main challenges for healthcare systems is the increasing prevalence of neurodegenerative pathologies together with the rapidly aging populations. The enormous progresses made in the field of biomedical research and informatics have been crucial for improving the knowledge of how genes, epigenetic modifications, aging, nutrition, drugs and microbiome impact health and disease. In fact, the availability of high technology and computational facilities for large-scale analysis enabled a deeper investigation of neurodegenerative disorders, providing a more comprehensive overview of disease and encouraging the development of a precision medicine approach for these pathologies. On this subject, the creation of collaborative networks among medical centers, research institutes and highly qualified specialists can be decisive for moving the precision medicine from the bench to the bedside. To this purpose, the present review has been thought to discuss the main components which may be part of precise and personalized treatment programs applied to neurodegenerative disorders. Parkinson Disease will be taken as an example to understand how precision medicine approach can be clinically useful and provide substantial benefit to patients. In this perspective, the realization of web-based networks can be decisive for the implementation of precision medicine strategies across different specialized centers as well as for supporting clinical/therapeutical decisions and promoting a more preventive and participative medicine for neurodegenerative disorders. These collaborative networks are essentially addressed to find innovative, sustainable and effective strategies able to provide optimal and safer therapies, discriminate at risk individuals, identify patients at preclinical or early stage of disease, set-up individualized and preventative strategies for improving prognosis and patient's quality of life.

摘要

医疗保健系统面临的主要挑战之一是神经退行性疾病的患病率不断上升,同时人口迅速老龄化。生物医学研究和信息学领域取得的巨大进展对于增进我们对基因、表观遗传修饰、衰老、营养、药物和微生物群如何影响健康和疾病的认识至关重要。事实上,用于大规模分析的高科技和计算设施的可用性使得对神经退行性疾病的研究更加深入,对疾病有了更全面的了解,并推动了针对这些病症的精准医学方法的发展。关于这一主题,医疗中心、研究机构和高素质专家之间建立合作网络对于将精准医学从实验室应用到临床可能具有决定性意义。为此,本综述旨在讨论可能成为应用于神经退行性疾病的精准和个性化治疗方案一部分的主要组成部分。将以帕金森病为例,了解精准医学方法在临床上如何有用,并为患者带来实质性益处。从这个角度来看,基于网络的网络的实现对于在不同专业中心实施精准医学策略以及支持临床/治疗决策、促进针对神经退行性疾病的更具预防性和参与性的医学可能具有决定性意义。这些合作网络主要致力于寻找创新、可持续和有效的策略,以提供最佳和更安全的治疗方法,识别有风险的个体,识别处于疾病临床前或早期阶段的患者,制定个性化和预防性策略以改善预后和患者的生活质量。

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