RSDB: A rare skin disease database to link drugs with potential drug targets for rare skin diseases

Abstract

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.

RDBridge: a knowledge graph of rare diseases based on large-scale text mining

“…Compared to existing databases, such as Orphanet ( Weinreich et al 2008 ), NORD ( Putkowski 2010 ), RareDDB ( Gupta et al 2016 ), RSDB ( Kuo et al 2022 ), GARD ( Nguengang Wakap et al 2020 ), and eRAM ( Jia et al 2018 ), RDBridge encompasses all data categories found in other databases, while also providing a web server ( Supplementary Table S3 ). Moreover, RDBridge integrates medical image information and establishes connections with diseases.…”

“…Although a few manually curated databases have been established ( Putkowski 2010 , Weinreich et al 2008 ), and efforts have been made to clean and integrate these ( Gupta et al 2016 , Hoskins 2022 , Kuo et al 2022 ), a scarcity of knowledge remains ( Nguengang Wakap et al 2020 ) due to the low efficiency and timeliness of manual annotation. Gathering and exploring multiple data sources remains a time-consuming task that requires significant expertise, and a considerable amount of potential knowledge remains trapped within unstructured text ( Nadif and Role 2021 ).…”

Acenocoumarol, an Anticoagulant Drug, Prevents Melanogenesis in B16F10 Melanoma Cells

“…Repurposing established drugs is a way to quickly find more effective treatments, which can be used to stabilize pandemics or treat rare diseases. Such drug repurposing has been promoted extensively over the past few years, as it is a rapid drug development approach able to bring effective drugs to the market for a variety of indications [26,27]. The field of cosmeceuticals targeting the skin is no exception: skin appearance is essential for self-esteem and quality of life, and therefore skincare products represent a huge market.…”

Care problems of a newborn with epidermolysis bullosa – a case study

“…Choroba jest genetycznie uwarunkowaną rzadką dermatozą skórną. Powstaje w wyniku upośledzenia w połączeniu warstw skóry właściwej i naskórka [1][2][3], na skutek czego zmniejszona jest wytrzymałość skóry na obciążenia mechaniczne [4,5]. Nawet najmniejszy ucisk lub otarcie skutkuje powstaniem ubytków skóry i niegojących się pęcherzy wypełnionych surowiczym płynem, które w następstwie z powodu kruchości tkanek mogą tworzyć rozległe rany i nadżerki [6][7][8].…”

“…Częstym objawem u osób z EB jest świąd [3,21]. Poza dokuczliwością stanowi on niezwykle istotny czynnik protekcyjny do drapania skóry, co w konsekwencji prowadzi do powstawania kolejnych pęcherzy.…”