- Country: 臺灣TAIWAN
- Official Title: 部主任
- Department: 高雄長庚醫院/長庚大學 醫學研究部
Speech Title
Are we ready to use polygenic risk score (PRS) to help the diagnosis of epilepsy?
應用癲癇PRS幫助臨床診斷:我們準備好了嗎?
Epilepsy is a severe neurological disorder affecting ~1% of the population. Current diagnosis of epilepsy mainly replies on physicians’ history taking and electroencephalography (EEG), which has high inter-rater variations. Objective biomarkers are needed. Genetic factors play a significant role in epilepsy patients, especially when acquired conditions (such as stroke, tumor and head trauma) are excluded. Previous GWAS studies have shown that SNP heritability is approximately 30-40% for genetic generalized epilepsies (GGE) and 9-16% for non-acquired focal epilepsies (NAFE). Recently, the goal of using polygenic risk scores (PRS) to help the diagnosis of epilepsies have been attempted. In this talk, I will review the concepts, recent advances and challenges ahead in using PRS to refine the diagnosis of epilepsy.