Ph.D, Duke University, USA
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.