期刊
JOURNAL OF INHERITED METABOLIC DISEASE
卷 -, 期 -, 页码 -出版社
WILEY
DOI: 10.1002/jimd.12674
关键词
drug repurposing; inborn errors of metabolism; pathogenic variants; personalized medicine; precision medicine; rare diseases
Due to the low number of patients, rare genetic diseases pose a special challenge for therapy development. Precision medicine uses specific molecular information to elucidate effective therapy possibilities for patient-specific pathogenic variants. This review focuses on personalized precision medicine approaches for cost-effective and fast therapy development, including drug repurposing and suitable cell culture models.
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. image
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