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牛道明 Niu, Dau-Ming

教授 / 陽明臨床醫學研究所

主任 / 台北榮民總醫院遺傳諮詢中心

主治醫師 / 台北榮民總醫院兒童醫學部

[ CV ]
  • Email:
  • Tel: 02-28712121 ext 8488


    • M.D. of Kaohsiung Medical University, 1987
    • Advanced studies in National Taiwan University Hospital, 1993
    • Advanced studies “Medical genetics” Duke University, USA, 1995
    • PhD, National Yang-Ming University, 2001
    • Attending physician of pediatrics in Taipei Veterans General Hospital, 1994
    • Director of Genetic Counseling Center in Taipei Veterans General Hospital, 2009-
    • Professor, Institute of Clinical medicine, National Yang-Ming University, 2011-
    • Director, Rare Disease Medical Research Center, Taipei Veterans General Hospital, 2011-


    • 2010 Veterans Affairs Commission, Executive Yuan, R.O.C. Best Doctor.
    • Bureau of Health Promotion, Department of Health, R.O.C.「No.1 in 2010 Outstanding Medicinal Personnel Award of Research and Caring rare diseases」
    • 2010 National Yung-Ming University Institute of Clinical Medicine Best Teacher
    • 2007 Veterans Affairs Commission, Executive Yuan, R.O.C. Best Doctor.
    • 2006 2nd National Presidential Award for Education.
    • 2006 Veterans Affairs Commission, Executive Yuan, R.O.C. Best Doctor.


      1)Inherited neurotransmitter disorders:

      Among the many inherited neuro- transmitter disorders, our research in 6-pyruvoyl-tetrahydropterin synthase deficiency has the most outstanding treatment outcome, ranked No. 1 in the world so far.

      2) Inherited disease in Orchid Island:

      The prevalence rate of Homocysteinuria and inherited Retinitis Pigmentosa in orchid Island is the highest in the world. Collaboration with Academia Sinica and Bureau of Health Promotion Department of Health (R.O.C.) is achieved to develop the Orchid Island health treatment program, in order for the islanders to receive the complete treatment and aftercare.

    3) Research of lysosomal storage diseases:

    One other focus of our research is in lysosomal storage dieseases. A major breakthrough of treating these diseases is the enzyme replacement developed in the recent years. Due to the treatment advances, early treatment becomes vital for these lysosomal diseases. According to this, our team proactively collaborated with newborn screening centres to develop a blood-spot screening method for lysosomal diseases. Moreover in a lysosomal disease, Fabry disease, a mutation IVS4+919 G>A was found for the first time in Taiwan, to be highly prevalent (1/1600 in males, highest in the world), and approximately 10% of Hypertrophic Cardiomyopathy adult male patients may be a result of this mutation. We further develop genetic screening for Gaucher's Disease、Mucopolysaccharidosis type II and biotinase deficiency…etc.

      (一) 先天神經傳導物質代謝異常疾病:

      在先天神經傳導物質代謝異常疾病中,以 6-pyruvoyl-tetrahydropterin synthase deficiency之研究最為卓著,病患的治療成效目前為全世界第一。



      (三) 溶酶體儲積症相關疾病之研究:

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