Implementing precision medicine in epilepsy

实施癫痫精准医疗

• 批准号: nhmrc : 1104831
• 负责人: Prof Ingrid Scheffer
• 金额: $ 38.7万
• 依托单位: The University of Melbourne
• 依托单位国家: 澳大利亚
• 项目类别: Practitioner Fellowships
• 财政年份: 2016
• 资助国家: 澳大利亚
• 起止时间: 2016-01-01 至 2020-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/implementing-precision-medicine-epilepsy/662786
• 关键词: Implementing; precision; medicine; epilepsy

I aim to understand the genetics of the epilepsies. Through detailed analysis of different types of epilepsy, and associated features such as intellectual disability and autism, I will describe new epilepsy syndromes, and together with gene discovery, implement novel targeted therapies. This translational program will transform clinical practice by informing diagnosis, prognostic and genetic counseling, and lead to targeted precision therapies to improve outcomes for each patient.

我的目标是了解癫痫的遗传学。通过详细分析不同类型的癫痫，以及相关的特征，如智力残疾和自闭症，我将描述新的癫痫综合征，并与基因发现一起，实施新的靶向治疗。这一转化计划将通过提供诊断、预后和遗传咨询来改变临床实践，并导致靶向精确治疗，以改善每位患者的预后。