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癫痫精准医学路线图。

A roadmap for precision medicine in the epilepsies.

出版信息

Lancet Neurol. 2015 Dec;14(12):1219-28. doi: 10.1016/S1474-4422(15)00199-4. Epub 2015 Sep 20.

Abstract

Technological advances have paved the way for accelerated genomic discovery and are bringing precision medicine clearly into view. Epilepsy research in particular is well suited to serve as a model for the development and deployment of targeted therapeutics in precision medicine because of the rapidly expanding genetic knowledge base in epilepsy, the availability of good in-vitro and in-vivo model systems to efficiently study the biological consequences of genetic mutations, the ability to turn these models into effective drug-screening platforms, and the establishment of collaborative research groups. Moving forward, it is crucial that these collaborations are strengthened, particularly through integrated research platforms, to provide robust analyses both for accurate personal genome analysis and gene and drug discovery. Similarly, the implementation of clinical trial networks will allow the expansion of patient sample populations with genetically defined epilepsy so that drug discovery can be translated into clinical practice.

摘要

技术进步为加速基因组发现铺平了道路,并使精准医学清晰可见。由于癫痫领域的遗传知识库迅速扩大,有良好的体外和体内模型系统可有效研究基因突变的生物学后果,有能力将这些模型转化为有效的药物筛选平台,以及建立了合作研究小组,癫痫研究尤其适合作为精准医学中靶向治疗药物开发和应用的典范。展望未来,加强这些合作至关重要,特别是通过整合研究平台,以便为准确的个人基因组分析以及基因和药物发现提供有力分析。同样,临床试验网络的实施将使具有基因明确的癫痫患者样本群体得以扩大,从而使药物发现能够转化为临床实践。

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