罕见病诊疗进展与挑战

doi:10.3969/j.issn.1673-8640.2023.02.001

检验医学 ›› 2023, Vol. 38 ›› Issue (2): 103-105.DOI: 10.3969/j.issn.1673-8640.2023.02.001

• 基因组技术与罕见病诊治专题 • 下一篇

罕见病诊疗进展与挑战

郁婷婷¹, 王剑²

1.上海交通大学医学院附属上海儿童医学中心，上海 200127
2.上海交通大学医学院附属国际和平妇幼保健院，上海 200030

收稿日期:2023-01-30 修回日期:2023-02-20 出版日期:2023-02-28 发布日期:2023-04-17
作者简介:郁婷婷，女，1983年生，博士，副研究员，主要从事遗传性疾病的分子诊断和发病机制研究。

Progress and challenges in diagnosis and treatment of rare diseases

YU Tingting¹, WANG Jian²

1. Shanghai Children's Medical Center，Shanghai Jiao Tong University School of Medicine，Shanghai 200127，China
2. International Peace Maternity and Child Health Care Hospital，Shanghai Jiao Tong University School of Medicine，Shanghai 200030，China

Received:2023-01-30 Revised:2023-02-20 Online:2023-02-28 Published:2023-04-17

摘要/Abstract

摘要：

罕见病的诊疗是全球医疗领域的重要挑战之一。近年来，随着科学技术的迅猛发展和相关政策的相继出台，罕见病诊疗相关研究取得了巨大进展。文章聚焦罕见病精准诊断过程中分子诊断技术的应用和遗传变异的解读，结合专题中的多篇报道展开述评，以期为罕见病诊疗工作的推进提供参考。

关键词: 罕见病, 全外显子组测序, 分子诊断, 基因变异

Abstract:

The diagnosis and treatment of rare diseases is one of the important challenges in the global medical field. In the recent years，with the rapid development of science and technology and the promulgation of relevant policies，great progress has been made in the field of diagnosis and treatment of rare diseases. This review focuses on the application of molecular diagnostic technology and the interpretation of genetic variation in the process of accurate diagnosis of rare diseases. It is carried out in combination with several reports in this special issue. It is hoped that this issue can provide a reference for the diagnosis and treatment of rare diseases.

Key words: Rare disease, Whole-exome sequencing, Molecular diagnosis, Genetic variation

中图分类号:

R446.1

郁婷婷, 王剑. 罕见病诊疗进展与挑战[J]. 检验医学, 2023, 38(2): 103-105.

YU Tingting, WANG Jian. Progress and challenges in diagnosis and treatment of rare diseases[J]. Laboratory Medicine, 2023, 38(2): 103-105.

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罕见病诊疗进展与挑战

Progress and challenges in diagnosis and treatment of rare diseases

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