医学信息学在罕见病诊疗中的研究进展及应用

罕见病种类繁多、表型复杂，存在遗传异质性和临床异质性，故其诊断极具挑战，且治疗方面缺乏有效药物。随着临床语义系统研究、二代测序、影像组学数据分析、多组学融合分析等医学信息学技术研究的不断深入，罕见病在数据共享、科学研究等方面的限制正在逐步被打破。整合和研究不同来源的罕见病相关共享数据，有利于更多致病位点的发现和孤儿药的开发，可促进罕见病的诊断和治疗。本文旨在介绍医学信息学技术在罕见病领域的研究进展及应用, 以期推动医学信息学在罕见病诊疗方面的发展。

Progress and Application of Medical Informatics in the Diagnosis and Treatment of Rare Diseases

Rare diseases have a wide variety, complicated manifestations, and genetic and clinical heterogeneity, which make the diagnosis highly challenging.Moreover, many of the diseases lack effective therapies.The research in medical informatics technologies, such as clinical semantic system, genomic data analysis, imaging data analysis, and multi-omics data fusion analysis, has been greatly improved with the development of precision medical informatics, which is gradually breaking the restrictions of rare disease in data sharing and scientific research of rare diseases. Integrating and studying the shared data of rare diseases from different sources is conducive to the discovery of more pathogenic loci and the development of orphan drugs, which will promote the diagnosis and treatment of rare diseases. This review aims to introduce recent research progresses and applications of medical informatics technologies on rare diseases, in order to promote the development of medical informatics in the diagnosis and treatment of rare disease.