There are tremendous unmet needs in drug development for rare diseases. Computational drug repositioning is a promising approach and has been successfully applied to the development of treatments for diseases. However, how to utilize this knowledge and effectively conduct and implement computational drug repositioning approaches for rare disease therapies is still an open issue. Here, we focus on the means of utilizing accumulated genomic data for accelerating and facilitating drug repositioning for rare diseases. First, we summarize the current genome landscape of rare diseases. Second, we propose several promising bioinformatics approaches and pipelines for computational drug repositioning for rare diseases. Finally, we discuss recent regulatory incentives and other enablers in rare disease drug development and outline the remaining challenges.

罕见疾病的药物开发存在巨大的未满足需求。计算药物重新定位是一种有前途的方法，已成功地应用于疾病治疗的开发。但是，如何利用这些知识并有效地实施和实施用于罕见病治疗的计算机药物重新定位方法仍然是一个悬而未决的问题。在这里，我们专注于利用累积的基因组数据来加速和促进罕见疾病药物重新定位的方法。首先，我们总结了当前罕见疾病的基因组格局。其次，我们提出了几种有前途的生物信息学方法和管道，用于稀有疾病的计算机药物重新定位。最后，我们讨论了罕见病药物开发中的最新监管激励措施和其他促成因素，并概述了仍然存在的挑战。