M.D., Ph.D. Columbia University
Our research interests are in translational research. We aim at translating the promise of genomic medicine into clinical reality.
Current research projects:
1). Identification of novel genes/targets associated with adverse drug reactions and some common multi-factorial diseases such as type II diabetes mellitus, bipolar disorder and Kawasaki disease.
2). Genetics and molecular mechanisms of Stevens-Johnson syndrome, a life-threatening cutaneous adverse drug reaction. We are investigating how the specific HLA allele and the T cell receptor mediating the cell toxicity in causing disseminated keratinocyte death.
3). Improved therapy for Pompe disease, a debilitating, progressive and often fatal myopathy. The enzyme replacement therapy for Pompe disease has dramatically improved the outcome of the disease; however, limitations of the therapy such as neutralizing antibody and variable skeletal response remain a challenge. We are continuing to explore various strategies to improve the therapies.
研究主題為轉譯醫學研究,將基礎基因醫藥研究應用到臨床醫學。
研究方向:
1. 鑑定與嚴重藥物不良反應及常見多因子疾病,如第二型糖尿病、躁鬱症、川崎症,有關的新穎基因或標的物。
2. 研究史帝文強生症候群的遺傳學與分子機轉,進行特定HLA-B對偶基因及T細胞接受器在引起角細胞死亡過程中如何調節細胞毒性。
3. 利用酵素替代性療法已可有效治療龐貝氏症,但治療瓶頸,如病患產生中和抗體或發生骨骼變異,尚待進一步研究。