Medical Faculty, Institute of Biochemistry, University of Giessen, Giessen, Germany.
J Inherit Metab Dis. 2024 May;47(3):509-516. doi: 10.1002/jimd.12674. Epub 2023 Aug 30.
Due to the low number of patients, rare genetic diseases are a special challenge for the development of therapies, especially for diseases that result from numerous, patient-specific pathogenic variants. Precision medicine makes use of various kinds of molecular information about a specific variant, so that the possibilities for an effective therapy based on the molecular features of the variants can be elucidated. The attention to personalized precision therapies has increased among scientists and clinicians, since the "single drug for all patients" approach does not allow the classification of individuals in subgroups according to the differences in the disease genotype or phenotype. This review article summarizes some approaches of personalized precision medicine that can be used for a cost-effective and fast development of therapies, even for single patients. We have focused on specific examples on inborn errors of metabolism, with special attention on drug repurposing. Furthermore, we provide an overview of cell culture models that are suitable for precision medicine approaches.
由于患者数量较少，罕见遗传病的治疗方法开发极具挑战性，尤其是对于由众多特定于患者的致病性变异引起的疾病。精准医学利用各种关于特定变异的分子信息，从而可以阐明基于变异分子特征的有效治疗的可能性。由于“一种药物适用于所有患者”的方法不能根据疾病基因型或表型的差异将个体分为亚组，因此科学家和临床医生越来越关注个性化精准治疗。本文综述了一些个性化精准医学方法，即使针对单个患者，也可以用于进行具有成本效益和快速的治疗方法开发。我们专注于代谢性遗传病的具体示例，特别关注药物再利用。此外，我们还概述了适合精准医学方法的细胞培养模型。
