研究員 / 本院生醫所
EDUCATION AND POSITIONS HELD:
- 1976 - 1978 Ph.D., Human Genetics, New York , Columbia University
- 1992 - 1998 Director, Medical Genetics Fellowship Training Program, Duke University Medical Center, Durham, NC
- 1993 - present Professor, Department of Pediatrics, Duke University Medical Center, Durham, NC
- 1994 - present Chief, Division of Medical Genetics, Duke University Medical Center, Durham, NC
- 1995 - present Professor, Department of Genetics, Duke University Medical Center, Durham, NC
- 2001 - present Director, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan
- 1983-1985 Charles E. Culpepper Fellow
- 1992-2001 The Best Doctors in America
- 2000 J.C. Pompe Award (First recipient), Children's Pompe Foundation
- 2001 Alpha Omega Alpha Honor Medical Society, elected faculty
- 2001 Distinguished Research Fellow, Academia Sinica
- 2002 Academician, Academia Sinica
- 2002 Foreign Scientific Advisor, Japanese Scoiety of Lysosomal Storage Disorders
Our overall research interests are in translational research. We aim at translating the promise of genomic medicine into clinical reality.
Specific projects at present time include:
Identification of novel genes/targets associated with human diseases. Genetic epidemiology, mouse ENU mutagenesis, bioinformatics, bioinformatics and proteomics are some approaches that we use in identification of novel genes associated with the human disease. Genes for several monogenic diseases have been mapped and/or identified or identified. Genetic markers associated with drug-induced Stevens-Johnson syndrome have been identified. Using ENU mutagenesis we have identified a mouse model resembling human maple syrup urine disease.
Functional characterization of a novel glucose transporter and its role in diabetes mellitus.
Enzyme and gene therapy and targeting mechanisms of Pompe disease.
鑑定人類疾病相關的新穎基因或藥物反應的基因標的：在人類疾病方面我們用基因遺傳學、突變鼠、生物資訊及蛋白體等方法，相互配合，已將一些與人 類疾病相關的基因或基因群，一些與單一基因(罕見疾病)疾病有關的基因，與史帝文生強生症候群相關的指標基因鑑定出來。突變鼠方面，已建立了一個與人類楓 糖漿尿毒症相似的小鼠動物模式。