1 of 7 Epi4K: Gene discovery in 4,000 epilepsy genomes - Administrative Core

描述(申请人提供)：无墙Epi4K中心的主要目标是增加对人类癫痫遗传基础的了解，以改善患有这些疾病的患者和家庭成员的福祉。这种改善将以更好的诊断、治疗和治愈的形式出现。为了实现这一目标，Epi4K旨在分析来自几个主要研究小组的研究人员收集的大量表型良好的癫痫患者和家族的基因组。该项目(7个项目中的1个--行政核心)的具体目标是向中心提供全面领导，特别是在中心章程、通用协议、数据共享计划、内部和外部沟通以及跟踪中心内所有核心和项目的科学进展方面。

DESCRIPTION (provided by applicant): The primary goal of the Epi4K Center Without Walls is to increase understanding of the genetic basis of human epilepsy in order to improve the well-being of patients and family members living with these disorders. This improvement will come in the form of better diagnostics, treatments and cures. To accomplish this goal, Epi4K aims to analyze the genomes of a large number of well-phenotyped epilepsy patients and families collected by investigators from several major research groups. The specific goals of this project (1 of 7 - Administrative Core) are to provide overall leadership to the Center, specifically regarding the Center's charter, universal protocols, plans for data sharing, internal and external communications, and tracking of scientific progress of all cores and projects within the Center.