Thinking and prospect in the diagnosis and treatment of rare diseases

doi:10.3969/j.issn.1673-8640.2021.02.001

Abstract

Abstract:

With the rapid development of medical technology,great progress has been made in the diagnosis and treatment of rare diseases in recent years. High-throughput sequencing technology plays an important role in the clinical diagnosis of rare diseases. Through gene diagnosis,clinicians have a new understanding on the mutations and clinical phenotypes of rare diseases. And targeted treatment strategies and prognosis management were adopted. In combination with several reports in this special issue of rare diseases,we reviewed the phenotype analysis of rare diseases,the reasonable application of detection techniques,the accurate analysis of genetic results,and the development of orphan drugs. It is hoped that it will provide reference for clinical practice of rare diseases.

Key words: Rare diseases, Phenotype, High-throughput sequencing

CLC Number:

R446.1

YU Tingting, FU Qihua. Thinking and prospect in the diagnosis and treatment of rare diseases[J]. Laboratory Medicine, 2021, 36(2): 119-121.

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