This review covers case studies in rare disease small molecule drug discovery with an emphasis on the use of new technologies and innovative target approaches. Case studies include examples of covalent modification, inducement of alternative splicing, stop codon readthrough, allosteric activation, and a repurposing example. The review highlights effective use of rare disease animal models, inducible pluripotent stem cells, and biomarkers.

中文翻译：

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罕见疾病小分子发现和开发中的案例研究。

这篇综述涵盖了罕见病小分子药物发现中的案例研究，重点是新技术和创新目标方法的使用。案例研究包括共价修饰，替代剪接的诱导，终止密码子通读，变构激活和重新设定用途的示例。该评论强调了罕见病动物模型，诱导型多能干细胞和生物标记物的有效利用。