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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

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[ CV ]
  • Email: dmniu1111@yahoo.com.tw
  • Tel: 02-28712121 ext 8488
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    EDUCATION AND POSITIONS HELD:

    • 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-

    HONORS:

    • 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.

    RESEARCH INTERESTS:

      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。

      (二)蘭嶼先天遺傳疾病研究:

      發現蘭嶼高胱胺酸尿症及先天性視網膜色素變性疾病,其發生率均為全世界第一。目前並與中央研究院及衛生署國民健康局合作,建構了蘭嶼醫療照護模式,以期能使蘭嶼居民得到完善的醫療資源。

      (三) 溶酶體儲積症相關疾病之研究:

      溶酶體儲積症疾病目前還沒有可以治療的藥物,最近幾年有藥廠發展一種酵素替代療法,可以讓病人補充具有正常功能的重組蛋白酵素,可以降低細胞溶酶體內的大分子醣化磷脂質的堆積。此種療法需要早期診斷與治療才會達到最大的療效,但目前還沒有準確的檢測方法或判斷病程的生物標記。於是本研究團隊積極與新生兒篩檢中心合作,研發血片方式篩檢溶小體儲積症,在台灣首先發現一個隱藏在內引子(Intron)中的國人好發的基因突變點(IVS4+919G>A),此基因突變會導致心臟變異型法布瑞氏症,令人驚訝的是台灣男性發生率高達1/1600,是目前全世界所知發生率最高的國家。最近藉由國人原發性心肌肥大病患的研究中發現:約10%成年男性病患起因於該基因突變點。本實驗室現在更進一步發展出龐貝氏症、高雪氏症、黏多醣貯積症第一型、生物素酶缺失等基因篩檢項目,將會繼續為國人提供準確的代謝型罕見疾病確診與相關臨床研究,希望能造福更多的溶酶體儲積症病患。
     
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