A Roadmap For Precision Medicine In The Epilepsies

F. Berkovic, I. E. Scheffer,S. Petrou,N. Delanty, T. J. Dixon-Salazar, D. J. Dlugos,I. Helbig, W. N. Frankel,D. B. Goldstein,E. L. Heinzen, D. H. Lowenstein, H. C. Mefford,J. M. Parent, A. Poduri,S. F. Traynelis

LANCET NEUROLOGY(2015)

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摘要
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.
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