罕见病诊断的相关技术及发展

发布时间：2018-03-11 10:03

本文选题：罕见病　切入点：诊断技术　出处：《科技导报》2017年16期 　论文类型：期刊论文

【摘要】：罕见病大多数是遗传性疾病,其发病率低,种类繁多且表型复杂多样,导致临床上难以进行及时和准确的诊断。随着分子遗传学、分子诊断技术、基因测序技术及组学技术的进步,罕见病诊断取得了重大发展。在传统基因检测技术基础上,二代测序技术迅速发展并广泛应用于罕见病的诊断和研究中,三代测序技术也展示出潜在应用价值。虽然传统的酶学检测技术仍占有重要地位,但已不能满足罕见病诊断的需求;蛋白质组学、代谢组学的崛起,使多种罕见病的准确诊断成为可能。同时结合分子影像技术和生物信息技术,计算机辅助诊断也展现出了广泛的应用前景。
[Abstract]:Rare diseases are mostly hereditary diseases, with a low incidence, a wide variety of phenotypes and complex phenotypes, which make it difficult to make timely and accurate diagnosis clinically. With the development of gene sequencing and genomics techniques, the diagnosis of rare diseases has made great progress. Based on the traditional gene detection technology, the second generation sequencing technology has been developed rapidly and widely used in the diagnosis and research of rare diseases. The third generation sequencing technology also shows the potential application value. Although the traditional enzymatic detection technology still plays an important role, it can no longer meet the needs of diagnosis of rare diseases; the rise of proteomics and metabolomics, It is possible to diagnose many rare diseases accurately. At the same time, computer aided diagnosis (CAD), combined with molecular imaging technology and bioinformatics technology, has shown a wide range of application prospects.
【作者单位】：中国医学科学院罕见病研究中心;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临床遗传学实验室;
【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基金(16DZKF1007) 国家卫生计生委2016年信息化与统计项目
【分类号】：R597

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