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Yuan-Tsong (Y.T.) Chen（Chinese: 陳垣崇）is a prominent physician/scientist, recognized for his work on human genetic disorders. He is the Director Emeritus (2001-2010) and Distinguished Research Fellow (2001-) of the Institute of Biomedical Sciences, Academia Sinica,Taiwan and also tenured Professor of Pediatrics of Duke University (1993-) .

Education and Training

Chen was born in Taipei City, Taiwan in 1948. He received his MD degree from National Taiwan University in 1973, and Ph.D. in Human Genetics from Columbia University, USA in 1978. He then received Pediatric resident training at Duke University Medical Center, and fellowship training in Medical Genetics in National Institutes of Health.

Academia career

Chen joined the Department of Pediatrics, Duke University as Assistant Professor in 1983. He was promoted to Associate Professor in 1988, and Tenured Professor of Pediatrics and Chief of the Division of Medical Genetics in 1993. In 2001, he was recruited by Dr. Yuan T. Lee, a Nobel laureate and the then President of Academia Sinica, to return to Taiwan to be the Director of Institute of Biomedical Sciences, Academia Sinica. Chen left the position of Director in 2010. He still is the Distinguish Research Fellow in the Institute of Biomedical Sciences, Academia Sinica.

Research

Early in Chen’s research career, he identified genetic basis and developed DNA-based diagnosis for several genetic metabolic diseases, including glycogen storage diseases and medium chain acyl Co-A dehydogenase deficiency. He also developed a simple and effective cornstarch therapy for Glycogen storage disease type I and other inherited metabolic disorders associated with severe hypoglycemia.

Chen’s other well-known achievement is the drug development of recombinant enzyme replacement therapy for Pompe disease, an enzyme-deficiency disorder that causes muscle damage, cardiorespiratory failure and in its severe infantile form, death by 2 years of age. The drug, eventually named “Myozyme”, was further developed by Genzyme and received the regulatory marketing approval in Europe and USA in 2006. The story of a father searching for a life-saving drug for his two children with Pompe disease and the development of this new drug has been adapted to a Hollywood movie entitled "Extraordinary Measures" featured Harrison Ford and Brendan Fraser.

Later, Chen’s research focus extends to the pharmacogenetics of adverse drug reactions and drug efficacy. His team identified VKORC1 gene variants to play a major role in determining the warfarin dosage, a widely prescribed anticoagulant. They teamed with International Warfarin Consortium to formulate a universal algorithm that can better predict an optimal dosage for each patient.. His team also discovered the strong association of the gene HLA-B*15:02 with carbamazepine , a drug used to treat epilepsy, and that of the gene HLA-B*58:01 with allopurinol, a widely prescribed drug for gout, to induce Stevens–Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). These pharmacogenetic researches have prompted the FDA to relabel the three commonly prescribed drugs with genetic information and to recommend genetic screening before prescribing the medication, and paved the road for personalized and precision medicine.

Chen has also identified susceptibility genes for type II diabetes and Kawasaki disease.

Major Honors

• Honor of Contributions, The Association for Glycogen Storage Disease 1992
• The Best Doctors in America 1992-1998
• J.C. Pompe Award, First Recipient, Children’s Pompe Foundation 2000
• Elected Member (Academician), Academia Sinica, Taiwan 2002
• Biotechnology Award, TECO Technology Foundation, Taiwan 2002
• Outstanding Medical and Pharmaceutical Science and Technology Award, Yung Shin *T. T. Lee Medical and Pharm. Foundation, Taiwan 2006
• Elected Member (Fellow), The World Academy of Sciences 2006
• Science and Engineering Achievement Award, Taiwanese-American Foundation, USA 2007
• Lifetime Contribution Award, The US Association for Glycogen Storage Disease 2008
• Inaugural Duke Medicine Innovations Award, Duke University 2012
• Distinguished Faculty Award, Duke University 2015