罕见病是世界人口中的一组罕见疾病。迄今为止,已经记录了大约7000种罕见疾病。然而,他们中的大多数没有已知的治疗方法。由于他们的稀缺流行导致对他们的治疗需求相对较低,制药业没有充分鼓励研究开发治疗它们的药物。这项工作旨在分析这种疾病的潜在药物重新定位策略。药物重新定位旨在为现有药物寻找新的用途。在这种情况下,它试图发现罕见疾病是否可以用以前用来治愈其他疾病的药物来治疗。我们的方法通过使用计算方法来计算罕见和非罕见疾病之间的相似性来解决这个问题。考虑到基因等生物学特征,蛋白质,和症状。重新定位的候选药物将根据科学文献中的临床试验进行检查。在这项研究中,已经选择了13种不同的罕见疾病,可以重新定位潜在的药物。通过在科学文献中验证这些药物,在研究的75%的罕见疾病中发现了成功的病例。检查了罕见疾病的遗传关联和表型特征。此外,根据解剖治疗化学(ATC)代码对经过验证的药物进行分类,以突出显示有较高倾向于重新定位的类型.这些有希望的结果为该研究领域的进一步研究打开了大门。
Rare diseases are a group of uncommon diseases in the world population. To date, about 7000 rare diseases have been documented. However, most of them do not have a known treatment. As a result of the relatively low demand for their treatments caused by their scarce prevalence, the pharmaceutical industry has not sufficiently encouraged the research to develop drugs to treat them. This work aims to analyse potential drug-repositioning strategies for this kind of disease. Drug repositioning seeks to find new uses for existing drugs. In this context, it seeks to discover if rare diseases could be treated with medicines previously indicated to heal other diseases. Our approaches tackle the problem by employing computational methods that calculate similarities between rare and non-rare diseases, considering biological features such as genes, proteins, and symptoms. Drug candidates for repositioning will be checked against clinical trials found in the scientific literature. In this study, 13 different rare diseases have been selected for which potential drugs could be repositioned. By verifying these drugs in the scientific literature, successful cases were found for 75% of the rare diseases studied. The genetic associations and phenotypical features of the rare diseases were examined. In addition, the verified drugs were classified according to the anatomical therapeutic chemical (ATC) code to highlight the types with a higher predisposition to be repositioned. These promising results open the door for further research in this field of study.