Dr. Wu, Jer-Yuarn 鄔哲源 博士

RESEARCH

Research Description

Utilizing deep sequencing and high density whole genome genotyping, our lab has long been focusing on identify underlying genetic factor(s) of familial single gene disorders, complex trait diseases, and drug-induced adverse reaction. Currently our research interest includes the following:

1. Singe gene disorder: identification of disease gene of familial autosomal dominant lumbar stenosis and elucidation of pathogenic mechanism of identified gene.

2. Complex trait diseases: (1) Identification of susceptibility genes of hand osteoarthritis and elucidation of disease mechanism. (2) Identification of susceptibility genes of stroke with each subtype as a disease entity and all stroke subtypes as a disease entity. (3) Identification of susceptibility genes of coronary artery disease.

3. Drug-induced adverse reaction: Dual antiplatelet therapy (DAPT) with aspirin and clopidogrel is the standard therapy for preventing recurrent thrombosis in patients with myocardial infarction and those undergoing percutaneous coronary intervention with stenting. However, there is risk of internal bleeding in some patients. We tried to utilize genome-wide association analysis (GWAS) to identify the underlying genetic factor association with bleeding adverse reaction. We have identified a candidate gene and is now trying to elucidate the pathogenic mechanism.

研究介紹

研究簡介

本實驗室長久以來，利用次世代基因定序以及全基因體鑑定技術，試圖找出單基因遺傳疾病致病基因、國人常見之複雜性疾病以及藥物引起不良反應之易感性基因。目前我們的研究主題包括:

1. 單基因遺傳疾病：我們發現一個顯性遺傳腰椎狹窄家族的致病基因，目前正試著釐清其分子病理機轉。
2. 複雜性疾病: (1) 手部退化性關節炎：利用全基因體分析，我們已找到華人手部退化性關節炎的易感性基因，並釐清其分子病理機轉，未來將試圖應用於台灣精準醫學聯盟資料庫的疾病風險預測。(2) 腦中風：我們針對各亞型腦中風做全基因體分析，並將所有腦中風合併為單一疾病表型分析，試圖找出各亞型腦中風以及所有腦中風的易感性基因。(3) 冠狀動脈疾病：利用全基因體分析，我們試圖找出華人冠狀動脈疾病易感性基因。
3. 藥物引起不良反應：抗血小板藥和阿斯匹靈合併服用，是臨床醫師用來防止心血管病患裝支架後的血管再阻塞，然而部分病患會有嚴重內出血副作用，利用全基因體分析，我們找到可能參予的基因，目前仍在驗證其病理機轉。