Article(id=1242136265605325358, tenantId=1146029695717560320, journalId=1146031591421210625, issueId=1242136253227934232, articleNumber=null, orderNo=9, doi=10.3981/j.issn.1000-7857.2017.16.003, pmid=null, cstr=null, oa=null, hot=null, price=null, onlineType=0, articleFormat=0, articleType=null, articleTypeStr=null, receivedDate=1495641600000, receivedDateStr=2017-05-25, revisedDate=1501430400000, revisedDateStr=2017-07-31, acceptedDate=null, acceptedDateStr=null, onlineDate=1503709804527, onlineDateStr=2017-08-26, pubDate=1503849600000, pubDateStr=2017-08-28, doiRegisterDate=null, doiRegisterDateStr=null, onlineIssueDate=1503709804527, onlineIssueDateStr=2017-08-26, onlineJustAcceptDate=null, onlineJustAcceptDateStr=null, onlineFirstDate=null, onlineFirstDateStr=null, sourceXml=null, magXml=null, createTime=1774077963492, creator=sys-migrate, updateTime=1774077963492, updator=sys-migrate, issue=Issue{id=1242136253227934232, tenantId=1146029695717560320, journalId=1146031591421210625, year='2017', volume='35', issue='16', pageStart='1', pageEnd='96', issueExtLink='null', onlineDate='null', pubDate='1503849600000', pubDateStr='2017-08-28', beforeIssueId=null, nextIssueId=null, price=null, status=1, issueComplete=1, articleOrder=3, issueType=-1, specialIssue=null, createTime=1774077960540, creator='sys-migrate', updateTime=1774077960540, updator='sys-migrate', preIssue=null, nextIssue=null, articleTotal=null, ext=null, issueFiles=null, downloadFileDto=null}, startPage=26, endPage=30, ext={EN=ArticleExt(id=1242136268793000460, articleId=1242136265605325358, tenantId=1146029695717560320, journalId=1146031591421210625, language=EN, title=Technologies and development of rare disease diagnosis, columnId=1242135221613703813, journalTitle=Science & Technology Review, columnName=Special lssues, runingTitle=null, highlight=null, articleAbstract=Most of rare diseases are hereditary diseases, characterized by low incidence, numerous varieties and diverse phenotypes, and therefore it is difficult to diagnose rare diseases timely and accurately in clinical practice. With the advances in the molecular genetics, the molecular diagnostic techniques, and the gene sequencing and omics techniques, a significant progress has been made in the diagnosis of rare diseases in recent years. On the basis of traditional gene detection techniques, the next-generation sequencing technology has been rapidly developed and widely used in the diagnosis and the research of rare diseases. The next-generation sequencing technology is costeffective and of high capacity over the traditional gene tests, and is well developed for the clinical use. The third generation sequencing also shows a potential diagnostic value. Although the traditional enzymatic detection techniques play an important role in the diagnosis of rare diseases, they fail to meet the surging diagnostic demands. Studies demonstrate that the rise of the proteomics and the metabolomics enables an accurate diagnosis of a variety of rare diseases. The computer-assisted initial diagnosis also sees a bright future, combined with the molecular imaging and the bio-information technologies. Technological advances have enhanced the ability to diagnose rare diseases to a great extent., authors=WANG Yuanpin1 , HU Xiaomin2 , GONG Mengchun1 , LING Chao3 , authorsList=WANG Yuanpin, HU Xiaomin, GONG Mengchun, LING Chao, authorCompany=1. Rare Disease Research Center, Chinese Academy of Medical Sciences, Beijing 100730, China;1 , 胡晓敏2 , 弓孟春1 , 凌超3 , authorsList=王远玭, 胡晓敏, 弓孟春, 凌超, authorCompany=1. 中国医学科学院罕见病研究中心, 北京 100730;
科技导报
| 专题论文 2017, 35(16): 26-30
罕见病诊断的相关技术及发展
全屏
王远玭1 , 胡晓敏2 , 弓孟春1 , 凌超3
作者信息
1. 中国医学科学院罕见病研究中心, 北京 100730;
通讯作者:
胡晓敏,研究实习员,研究方向为心血管疾病发病机制,电子信箱:huxiaomin2015@163.com
Technologies and development of rare disease diagnosis
Affiliations
出版时间: 2017-08-28
doi: 10.3981/j.issn.1000-7857.2017.16.003
文章导航
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。
罕见病
/
诊断技术
/
基因检测
/
蛋白质组学
/
代谢组学
Most of rare diseases are hereditary diseases, characterized by low incidence, numerous varieties and diverse phenotypes, and therefore it is difficult to diagnose rare diseases timely and accurately in clinical practice. With the advances in the molecular genetics, the molecular diagnostic techniques, and the gene sequencing and omics techniques, a significant progress has been made in the diagnosis of rare diseases in recent years. On the basis of traditional gene detection techniques, the next-generation sequencing technology has been rapidly developed and widely used in the diagnosis and the research of rare diseases. The next-generation sequencing technology is costeffective and of high capacity over the traditional gene tests, and is well developed for the clinical use. The third generation sequencing also shows a potential diagnostic value. Although the traditional enzymatic detection techniques play an important role in the diagnosis of rare diseases, they fail to meet the surging diagnostic demands. Studies demonstrate that the rise of the proteomics and the metabolomics enables an accurate diagnosis of a variety of rare diseases. The computer-assisted initial diagnosis also sees a bright future, combined with the molecular imaging and the bio-information technologies. Technological advances have enhanced the ability to diagnose rare diseases to a great extent.
rare diseases
/
diagnostic technologies
/
gene sequencing
/
proteomics
/
metabolomics
王远玭, 胡晓敏, 弓孟春, 凌超.
罕见病诊断的相关技术及发展.
科技导报,
2017
, 35
(16)
: 26
-30
.
DOI: 10.3981/j.issn.1000-7857.2017.16.003
WANG Yuanpin, HU Xiaomin, GONG Mengchun, LING Chao.
Technologies and development of rare disease diagnosis[J].
Science & Technology Review ,
2017
, 35
(16)
: 26
-30
.
DOI: 10.3981/j.issn.1000-7857.2017.16.003
2017年第35卷第16期
PDF下载
368
109
引用本文
BibTeX
文章信息
doi: 10.3981/j.issn.1000-7857.2017.16.003
接收时间：2017-05-25
首发时间：2017-08-26
出版时间：2017-08-28
收稿日期：2017-05-25
修回日期：2017-07-31
通讯作者:
胡晓敏,研究实习员,研究方向为心血管疾病发病机制,电子信箱:huxiaomin2015@163.com
https://castjournals.cast.org.cn/joweb/kjdb/CN/10.3981/j.issn.1000-7857.2017.16.003
引用本文
BibTeX
2种不同金属材料的力学参数
科 属数 种数 占总种数比例 属 种数 占总种数比例 鹅膏菌科Amanitaceae 2 11 5.26 鹅膏菌属 Amanita 10 4.78 小菇科 Mycenaceae 2 12 5.74 丝盖伞属 Inocybe 5 2.39 多孔菌科 Polyporaceae 8 14 6.70 蜡蘑属 Laccaria 5 2.39 红菇科 Russulaceae 3 23 11.00 小皮伞属 Marasmius 6 2.87 小菇属 Mycena 11 5.26 光柄菇属 Pluteus 5 2.39 红菇属 Russula 17 8.13 栓菌属 Trametes 5 2.39
关闭全屏
BibTeX
EndNote
RefWorks
TxT
PDF下载
全屏
368
109
关闭全屏
北京市海淀区学院南路86号
010-62199257
qkjq@cast.org.cn
