The Metabolomics Core Laboratory, Center of Genomic Medicine, National Taiwan University, No. 1, Sec. 4, Roosevelt Road, Taipei, 10617, Taiwan.
Graduate Institute of Biomedical Electronics and Bioinformatics, College of Electrical Engineering and Computer Science, National Taiwan University, No. 1, Sec. 4, Roosevelt Road, Taipei, 10617, Taiwan.
Sci Data. 2022 Aug 26;9(1):521. doi: 10.1038/s41597-022-01654-2.
Rare skin diseases include more than 800 diseases affecting more than 6.8 million patients worldwide. However, only 100 drugs have been developed for treating rare skin diseases in the past 38 years. To investigate potential treatments through drug repurposing for rare skin diseases, it is necessary to have a well-organized database to link all known disease causes, mechanisms, and related information to accelerate the process. Drug repurposing provides less expensive and faster potential options to develop treatments for known diseases. In this work, we designed and constructed a rare skin disease database (RSDB) as a disease-centered information depository to facilitate repurposing drug candidates for rare skin diseases. We collected and integrated associated genes, chemicals, and phenotypes into a network connected by pairwise relationships between different components for rare skin diseases. The RSDB covers 891 rare skin diseases defined by the Orphanet and GARD databases. The organized network for each rare skin disease comprises associated genes, phenotypes, and chemicals with the corresponding connections. The RSDB is available at https://rsdb.cmdm.tw .
罕见皮肤病包括 800 多种疾病，影响全球超过 680 万名患者。然而，在过去的 38 年里，仅开发了 100 种药物用于治疗罕见皮肤病。为了通过药物重用来寻找罕见皮肤病的潜在治疗方法，有必要建立一个组织良好的数据库，将所有已知的疾病病因、机制和相关信息联系起来，以加速这一过程。药物重用以更低的成本和更快的速度为已知疾病提供了潜在的治疗选择。在这项工作中，我们设计并构建了一个罕见皮肤病数据库（RSDB），作为一个以疾病为中心的信息存储库，以促进为罕见皮肤病重新利用药物候选物。我们收集并整合了相关基因、化学物质和表型，将它们连接成一个由不同成分之间的两两关系组成的网络。RSDB 涵盖了 Orphanet 和 GARD 数据库定义的 891 种罕见皮肤病。每个罕见皮肤病的有组织网络包括相关基因、表型和化学物质及其相应的连接。RSDB 可在 https://rsdb.cmdm.tw 上获取。
