罕见病诊疗进展与挑战

Progress and challenges in diagnosis and treatment of rare diseases

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。

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.