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From molecules to medicines: the dawn of targeted therapies for genetic epilepsies

机译：从分子到药物：遗传癫痫的靶向疗法的曙光

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Precision medicine is the treatment of patients with therapy targeted to their specific pathophysiology. This lofty ideal currently has limited application in clinical practice. However, new technological advances in epilepsy models and genomics suggest that the precision medicine revolution is closer than ever before. We are gaining an improved understanding of the true complexity underlying the pathophysiology of genetic epilepsies and the sources of phenotypic variation that continue to frustrate efforts at genotype-phenotype correlation. Conventional experimental models of epilepsy, such as mouse models and heterologous expression systems, have provided many of the advances in our understanding of genetic epilepsies, but fail to account for some of these complexities. Novel high-throughput models of epilepsy such as zebrafish and induced pluripotent stems cells can be combined with CRISPR-Cas9 gene editing techniques to explore the pathogenesis of a specific gene change and rapidly screen drug libraries for potential therapeutics. The knowledge gained from these models must be combined with thorough natural history studies to determine appropriate patient populations for pragmatic clinical trials. Advances in the 'omics', genetic epilepsy models and deep-phenotyping techniques have revolutionary translational research potential that can bring precision medicine to the forefront of clinical practice in the coming decade.
机译：精密药物是治疗患者靶向其特定病理生理学的患者。这种崇高的理想目前在临床实践中的应用有限。然而，癫痫模型和基因组学的新技术进步表明，精密医学革命比以往任何时候都更接近。我们正在提高对遗传癫痫病理生理学和表型变异源的真实复杂性的理解，这继续挫败基因型表型相关性的努力。癫痫的常规实验模型，例如小鼠模型和异源表达系统，已经为我们对遗传癫痫的理解提供了许多进展，但未能考虑一些这些复杂性。癫痫和诱导多能茎细胞等癫痫的新型高通量模型可以与CRISPR-CAS9基因编辑技术组合，以探讨特定基因变化的发病机制，迅速筛选潜在治疗药物。这些模型中获得的知识必须与彻底的自然历史研究相结合，以确定用于务语临床试验的适当患者群体。 “omics”的进展，遗传癫痫模型和深表型技术具有革命性的翻译研究潜力，可以在未来十年内为临床实践的最前沿带来精密药。

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