台灣神經學學會活動看板最新消息：Taiwan Neurology Society Neurogenetic Variant Interpretation Workshop

字體：小．中．大

Taiwan Neurology Society Neurogenetic Variant Interpretation Workshop

時間：2024/4/29

點閱率：3862

Taiwan Neurology Society Neurogenetic Variant Interpretation Workshop

Guest moderator: Prof Denis Lal and Dr Tobias Brünger , Houston, USA
Taiwan: Prof Meng-Han Tsai, Prof Liou YC
Time: 2024.8.31 (Sat)
Venue: Kaohsiung Marriott Hotel (Max 65 person)

會員線上報名 非會員線上報名 報名名單

基因檢測和NGS已經變成神經疾病診斷的重要工具基因報告常常寫Pathogenic或Likely Pathogenic 甚至 VUS
你知道怎麼判讀這些基因突變的意義嗎？ACMG guideline到底怎麼用？
神經學會教育跟基因委員會邀請到美國德州大學McGovern醫學院的Prof Denis Lal和 Dr Tobias Brunger 來台灣舉辦一天的神經基因突變判讀工作坊
歡迎帶著你的電腦來hands on學習如何用網路資源判讀神經基因突變學會自己看懂基因報告

Prof Denis Lal 是美國知名的癲癇基因專家之前在哈佛Broad Institute任職過，目前也是 ClinGen 的 member
之前在美國及南美洲都曾舉辦過worshop 這次難得邀請到他同意將課程搬來台灣舉行以後也不知道還有沒有機會再辦
機會難得名額有限先搶先贏喔！

Day 1 Time	Type	Topic	Speaker
8:30-:9:00 am	Registration	Registration
9:00-9:05 am		Welcome	Meng-Han
9:05-9:30 am	Lecture	Introduction to neurogenetic disorders	Prof YC Liou
9:30am-10:20am	Lecture (25%) + hands on (75%)	How to assess if my patient has a genetic disorder & how to decide what test to order	Dennis Lal
10:20am-11:10pm	Lecture 75% + 25% Q &A	Variant pathogenicity classification – ACMG overview, 2015 & 2024	Tobias Brünger
11:10am-12:00pm	Lecture 50% + hands on (50%)	Variant pathogenicity classification – ACMG – population evidence	Dennis Lal
Noon-1pm	Lunch symposium	Geneyx
1:00-1:50pm	Lecture 50% + hands on (50%)	Variant pathogenicity classification – ACMG – clinical evidence	Dennis Lal
1:50-2:40pm	Lecture 50% + hands on (50%)	Variant pathogenicity classification – ACMG – molecular evidence	Tobias Brünger
2:40-3:30pm	Lecture 25% + hands on (75%)	Variant interpretation case studies	Tobias Brünger/Dennis Lal
3:30pm-3:50pm	Coffee break
3:50-4:40pm	Lecture 75% + 25% Q &A	Variant pathogenicity classification of CNVs – ACMG/ClinGen	Tobias Brünger
4:40-5:30pm	Lecture 25% + hands on (75%)	Variant interpretation case studies (CNV`s)	Tobias Brünger/Dennis Lal
5:30-6:20pm	Lecture	Negative or inconclusive tests - what to consider	Dennis Lal
6:20-6:30pm	Survey & closing	Sharing of workshop survey	Denis & Meng-Han

top

首頁 > 活動看板 > 最新消息

　首頁 > 活動看板 > 最新消息