中国癫痫基因1.0项目子项目

在主项目（1）中，我们初步计划通过家庭三人组（患者与父母）进行外显子测序或全基因组测序，对1万例无获得性病因的癫痫患者进行基因检测。除了科学研究外，基因检测结果将被单独进行分析。我们将会为每位患者提供可能的遗传诊断和管理建议。我们正努力寻找新的基因、新表型以及遗传损伤和临床严重程度间的相互关系。

我们将组织数个不同的子课题进行研究，欢迎研究者自荐或推荐组织进行相关子课题的研究工作。

项目2，遗传依赖与致病性数据库(GD&P)旨在为评估每个基因的致病潜力和个体变异的致病性提供必要的信息。在这个数据库中，我们对遗传依赖的信息给予了特别的关注，我们用这个概念来描述正常生活中有多大程度上依赖于基因的功能。

项目3，不良反应的基因危险因素组项目主要是寻找抗癫痫药物副作用的基因危险因素，如皮肤过敏反应等。

项目4，随着科学技术的日益发展，更多患者可通过基因检测技术进一步了解癫痫病情，但是医生如何正确解读基因检测结果是我们所面临的一大挑战。基因测序与数据解读教育项目的目标是在3年内培养100名能够解读全外显子测序结果的医生，培养1000名能够看懂全外显子测序报告的医生。

Sub-Projects of China Epilepsy Gene 1.0

In Main Project 1, we preliminarily plan to have genetic tests in 10 thousands patients with epilepsy that had no acquired causes, in trios by whole exon sequencing or whole gene sequencing. In addition to scientific studies, the genetic test results will be analyzed individually. Possible genetic diagnosis and suggestions on management will be provided for each patient. We look for new genes, new phenotypes, and the correlations between genetic impairment and clinical severity.

In Project 2 ，the Genetic Dependence and Pathogenicity (GD&P) Database aims to provide essential information for evaluating the pathogenic potential of each gene and the pathogenicity of variants from an individual. In this database, special attention has been paid to information of Genetic Dependence, a concept that we used to describe the extent to which a normal life depends on the functioning of a gene.

In Project 3, we aim to find the genetic risk factors of AEDs‘ adverse events, such as the genetic risk factors cutaneous adverse drug reaction.

Finally in Project 4, with the advance of techniques, genetic test has become available for many patients. However, how to interpret the results from genetic test is challenging. The education program on sequencing and interpreting preliminarily plans to have 100 doctors trained in interpreting whole exon sequencing and 1000 doctors trained in understanding whole exon sequencing reports.