精准医学应用于罕见神经疾病的现状与前景

发布时间：2018-03-08 20:14

本文选题：罕见病　切入点：精准医学　出处：《科技导报》2017年16期 　论文类型：期刊论文

【摘要】：罕见神经疾病往往具有病因不明、疾病进行性发展、表型差异性大等特点,在诊治方面始终面临着巨大挑战。近年来,精准医学在罕见神经疾病中的应用愈加广泛,在探索发病机制、细化诊断分型、改善治疗手段、评估风险与积极预防等方面显现出良好的前景。此外,精准医学可以连接基础和临床,对于创新疾病诊治思路有重要提示作用。尽管罕见病信息资源整合程度有限、组学数据释读仍存在困难,但随着生物信息学和计算技术的飞速发展,精准医学在罕见神经疾病方面的应用前景仍然值得期待。精准医学研究有望促成罕见神经疾病诊疗水平的飞跃。
[Abstract]:Rare neurological diseases are often characterized by unknown etiology, progressive development of diseases, large phenotypic differences, and so on. In recent years, precision medicine has been widely used in rare neurological diseases. There are good prospects in exploring pathogenesis, refining diagnosis and typing, improving treatment methods, assessing risks and active prevention. In addition, precision medicine can connect basic and clinical. Although the integration of information resources of rare diseases is limited and the interpretation of group data is still difficult, with the rapid development of bioinformatics and computing technology, The application of precision medicine in rare neurological diseases is still to be expected. Precision medicine research is expected to lead to a leap in the level of diagnosis and treatment of rare neurological diseases.
【作者单位】：中国医学科学院北京协和医院中心实验室;中国医学科学院北京协和医院神经科;
【基金】：国家重点研发计划项目(2016YFC0901500) 上海市出生缺陷防治重点实验室开放课题(16DZKF1007) 国家卫生计生委2016年信息化与统计项目
【分类号】：R741

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