The identification of new epilepsy genes by whole genome sequencing

全基因组测序鉴定新的癫痫基因

• 批准号: nhmrc : GNT1125523
• 负责人: A/Pr Marcel Dinger
• 金额: $ 106.98万
• 依托单位: University of South Australia
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2017
• 资助国家: 澳大利亚
• 起止时间: 2017-01-01 至 无数据
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/identification-new-epilepsy-genome-sequencing/1347495
• 关键词: identification; new; epilepsy; genes; whole

Epilepsy is a common brain disorder affecting approximately 50 million people worldwide. The most common type of epilepsy is known as focal epilepsy. Our group has recently shown the importance of genetic mutations as causes of focal epilepsy. Using modern genomic technologies we will identify new genes in focal epilepsy. We will make animal models of these genes to better understand the pathobiology of epilepsy so that new treatments can be developed for patients.

癫痫是一种常见的脑部疾病，影响着全世界约5000万人。最常见的癫痫类型是局灶性癫痫。我们的小组最近显示了基因突变作为局灶性癫痫病因的重要性。利用现代基因组技术，我们将发现局灶性癫痫的新基因。我们将建立这些基因的动物模型，以便更好地了解癫痫的病理生物学，从而为患者开发新的治疗方法。