Kwang-Jen Hsiao, Professor                  蕭 廣 仁 教 授

2008 ---- present    Consultant, Department of Education and Research, Taipei City Hospital

1990 ---- present    Adjunct Investigator, Department of Medical Research & Education, Taipei Veterans General Hospital  (VGH)

1987 ---- present    Chief Executive Officer, Preventive Medicine Foundation (PMF), Taipei, Taiwan

2003.11 - 2004.7   Vice Chancellor, University System of Taiwan (UST)

2003 ---- 2004.7    Jointly Appointed Professor, Institute of Bioinformatics, National Yang Ming University (YMU)

2000.5 -- 2004.7    Director, Genome Research Center (YMGC), National Yang Ming University

2000.8 -- 2003.7    Chairman, Institute of Genetics, National Yang Ming University

1996 ---- 1998      Director, Department of Research Resources, National Health Research Institutes (NHRI), Taiwan

1990 ---- 1993      Dean of General Affairs, National Yang Ming College of Medicine, Taipei, Taiwan

1982 ---- 1990      Adjunct Assoiciate Professor and Professor, Institutes of Biochemistry and Genetics, National Yang Ming College of Medicine

1981 ---- 1990      Associate Investigator and Investigator, Department of Medical Research, Taipei Veterans General Hospital

1979 ---- 1980      Associate Professor, Department of Biochemistry, National Yang Ming College of Medicine

1973 ---- 1978      Ph.D. in Biomedical Sciences, Mount Sinai School of Medicine, City University of New York

1967 ---- 1971      B.Sc. in Chemistry; Chung-Yuan University, Chung-Li, Taiwan, R.O.C.

2008 ---- 迄今    台北市立聯合醫院 教學研究部 顧問

2005 ---- 迄今    台北榮民總醫院 教學研究部 特約研究員 (臨床生化研究室)

1987 ---- 迄今    預防醫學基金會 執行長

1990 ---- 2004    台北榮民總醫院 教學研究部 兼任研究員 (臨床生化研究室)

2003.11 - 2004.7  台灣聯合大學系統 系統副校長

2003 ---- 2004.7  國立陽明大學 生物資訊研究所 合聘教授

2000.5 -- 2004.7  國立陽明大學 基因體研究中心 主任

2000.8 -- 2003.7  國立陽明大學 遺傳研究所 所長

1998 ---- 2004.7  國立陽明大學 醫學生物技術研究所 合聘教授

1996 ---- 1998    國家衛生研究院 綜合業務處 處長

1990 ---- 1993    國立陽明醫學院 總務長

1990 ---- 2004.7  國立陽明大學 遺傳研究所 教授

1982 ---- 1990    國立陽明醫學院 生化研究所 及 遺傳研究所 兼任副教授、教授

1982 ---- 1990    國立陽明醫學院 生化研究所 及 遺傳研究所 兼任副教授、教授

1981 ---- 1990    台北榮民總醫院 醫學研究部 副研究員、研究員

1979 ---- 1980    國立陽明醫學院 生化科 副教授

1973 ---- 1978    紐約市立大學 西奈山醫學院 生物醫學博士

1967 ---- 1971    中原理工學院 化學學士

The major research interests of the laboratory are to develop preventive medicine programs through clinical biochemistry research and the related basic and application research. The major target diseases are inherited metabolic disorders. The current research interests:

1. Phenylketonuria (PKU): To establish a biochemical analysis system to differentiate tetrahydrobiopterin (BH4) deficient PKU from phenylalanine hydroxylase deficient PKU for the proper treatment of PKU. To identify the molecular defects of BH4 deficient PKU by molecular genetic approaches and to investigate the relationship between phenotypes and genotypes.

2. Organic aciduria (acidemia): To establish a biochemical analysis system for confirmatory and differential diagnosis of propionic acidemia and methylmalonic acidemia. To identify the molecular defects of these diseases by molecular genetic approaches.

3. Developing a Chinese Gene Variation Database (CGVdb).

4. Inter-laboratory Quality Assurance for Neonatal G6PD Screening: To develop and etstablish inter-laboratory quality assurance program for newborn screening of glucose-6-phosphate dehydrogenase (G6PD) deficiency (including screening and confirmation diagnosis tests).

5. Newborn Hearing Screening Program: Developing an integrated newborn hearing screening and follow-up system helping local government to implement hearing screening program for all the newborns in the region.

《研究興趣》

目前主要的研究興趣如下：

1. 苯酮尿症之 研究： 利用生化學方法，建立四氫生喋呤 (tetrahydrobiopterin;BH4) 缺乏型苯酮尿症的確認診斷系統；同時亦利用分子生物學方法， 探討國人四氫生喋呤缺乏型苯酮尿症的致病機轉。利用 DNA 聚合酵素鏈反應和限制酵素反應，研究中國人苯酮尿症的苯丙胺酸羥化酵素和 BH4 代謝酵素的基因結構及其突變。

2. 有機酸血（尿）症之研究： 用生化學方法建立丙酸血症 (propionic acidemia) 及甲基丙二酸血症 (methylmalonic acidemia) 之確認及鑑別診斷之方法，並進一步利用分子生物學技術，研究該疾病發生的分子機轉。

3. 研發及建置 華人基因變異資料庫 (CGVdb)。

4. 新生兒 G6PD 缺乏症篩檢院際品管計畫： 研發建立 Glucose-6-Phosphate Dehydrogenase (G6PD) 確認檢驗及新生兒 G6PD 篩檢院際品管系統 ，確保 G6PD 轉介醫院及新生兒篩檢中心的檢驗品質，以保障民眾之權益。

5. 新生兒聽力篩檢推廣計畫 : 規劃發展區域性整體新生兒聽力篩檢系統，統合協調各公私立單位，協助地方政府推廣新生兒聽力全面篩檢。

Biochemical Genetics

Inherited Metabolic Diseases

Clinical Biochemistry

Graduate Core Course: 1). Metabolism Section: 2003.12 (2001.12; 2000.12; 1999.12; 1999.3 )

                      2). Introduction to Genomic Research Techniques: 2002 ( 2001; 1999 )

Clinical enzymology

Molecular & biochemical diagnosis of inherited metabolic diseases

Neonatal screening of congenital metabolic diseases

Liu TT, Chiang SH, Wu SJ, Hsiao KJ.  Tetrahydrobiopterin deficient hyperphenylalaninemia in the Chinese. Clin Chim Acta 2001; 313: 157-169.

Chen CH, Chen WY, Liu HL, Liu TT, Tsou AP, Lin CY, Chao T, Qi, Y, Hsiao KJ.  Identification of mutations in vasopressin 2 receptor gene causing nephrogenic diabetes insipidus in Chinese patients. J Hum Genet 2002; 47: 66-73.

Chen KJ, Chao HK, Hsiao KJ, Su TS.  Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene. Hum Genet 2002; 110: 235-243.

Kobayashi K, Lu YB, Li MX, Nishi I, Hsiao KJ,et al.  Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asia populations. Mol Genet Metab 2003; 80: 356-9.

Chiang SH, Wu KF, Liu TT, Wu SJ, Hsiao KJ. Quality assurance program for neonatal screening of glucose-6phosphate dehydrogenase deficiency. Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3:130-4.

Liu XQ, Zhang YF, Liu TT, Hsiao KJ, Zhang JM, Gu XF, et al.  Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease. World J Gastroenterol 2004; 10: 590-3.

The International Chimpanzee Chromosome 22 Consorium. DNA sequence and comparative analysis of chimpanzee chromosome 22. Nature 2004; 429: 382-388.

Chen WM, Liu YF, Lin MW, Chen IC, Lin PY, Lin GL, Jou YS, Lin YT, Fan CSJ, Wu JY, Hsiao KJ, Tsai SF.  Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13.  Am J Hum Genet 2004; 75: 310-317.

Wu KH, Tzung TY, Ro LS, Hsiao KJ.  A novel mutation (c.1072_1074delGAG) in the alpha-galactosidase gene of a Taiwanese family with Fabry disease.  Acta Derm Venereol 2004; 84: 310-311.

Lin MW, Lee DD, Lin CH, Huang CY, Wong CK, Chang YT, Liu HN,  Hsiao KJ, Tsai SF.  Suggestive linkage of familial primary cutaneous amyloidosis to a locus on chromosome 1q23.  Br J Dermatol 2005;152:29-36.

Lan YC, Liu TT, Yang JY, Lee CM, Chen YJ, Chan YJ,  Lu JJ,  Liu HF,  Hsiung CA,  Ho MS, Hsiao KJ, Chen HY, Chen YMA.  Molecular epidemiology of SARS coronavirus infections in Taiwan.  J Infect Dis 2005;191(9):1478-89.

Liu YF, Chen WM, Lin YF, Yang RC, Lin MW, Li LH, Chang YH, Jou YS, Lin PY, Su JS, Huang SF, Hsiao KJ, Fann CSJ, Hwang HW, Chen YT, Tsai SF.   Mutations in the type II collagen gene and inherited osteonecrosis of the femoral head.  N Engl J Med 2005;352:2294-301.

International Rice Genome Sequencing Project. The map-based sequence of the rice genome. Nature 2005;436:793-800.

Lee NC, Niu DM, Lin CY, Hsiao KJ, Yang AH, Ng YY. Alpha-galactosidase activity should be examined in patients with proteinuria: what have we learned from a family affected with Fabry disease? Nephrol Dial Transplant 2006;21:549-50.

Lee NC, Cheng LY, Liu TT, Hsiao KJ, Chiu PC, Niu DM. Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency. Mol Genet Metab 2006;87:128-34.

Wang L, Yu WM, He C, Chang M, Shen M, Zhou Z, Zhang Z, Shen S, Liu TT, Hsiao KJ. Long-term outcome and neuroradiological findings of 31 patients with 6-pyruvoyltetrahydropterin synthase deficiency. J Inherit Metab Dis 2006;29:127-34.

Mayhew GF, Bartholomay LC, Kuo HY, Rocheleau TA, Fuchs JF, Aliota MT, Tsao IY, Huang CY, Liu TT, Hsiao KJ, Tsai SF, Yang UC, Perna NT, Cho WL, Christensen BM, Chen CC. Construction and characterization of an expressed sequenced tag library for the mosquito vector Armigeres subalbatus. BMC Genomics 2007;8:462.

Liu KM, Liu TT, Lee NC, Cheng LY, Hsiao KJ, Niu DM. Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency. Arch Neurol 2008;65:387-92.

Ho PY, Huang MZ, Fwu VT, Lin SC, Hsiao KJ, Su TS. Simultaneous assessment of the effects of exonic mutations on RNA splicing and protein functions. Biochem Biophys Res Commun 2008;373:515-20.

Chiang SH, Fan ML, Hsiao KJ. External quality assurance program for newborn screening of glucose-6-phosphate dehydrogenase deficiency. Ann Acad Med Singapore 2008;37(Suppl 3):84-7.

Vatanavicharn N, Kuptanon C, Liammongkolkul S, Liu TT, Hsiao KJ, Ratanarak P, Blau N, Wasant P. Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency. J Inherit Metab Dis. 2009; 32:754.

Yen MY, Wang AG, Lin YC, Fann MJ, Hsiao KJ. Novel mutations of the OPA1 gene in Chinese dominant optic atrophy. Ophthalmology 2010;117:392-6.

Cheng KH, Liu MY, Kao CH, Chen YJ, Hsiao KJ, Liu TT, Lin HY, Huang CH, Chiang CC, Ho HJ, Lin SP, Lee NC, Hwu WL, Lin JL, Hung PY, Niu DM. Newborn screening for methylmalonic aciduria by tandem mass spectrometry: 7 years' experience from two centers in Taiwan. J Chin Med Assoc. 2010;73:314-8.

Niu DM, Chien YH, Chiang CC, Ho HC, Hwu WL, Kao SM, Chiang SH, Kao CH, Liu TT, Chiang H, Hsiao KJ. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan. J Inherit Metab Dis. 2010;33(Suppl 2):S295-305.

Liu MY, Yang YL, Chang YC, Chiang SH, Lin SP, Han LS, Yu Qi7, Hsiao KJ, Liu TT. Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria. J Hum Genet. 2010;55:621-6.

Lin JT, Hsiao KJ, Chen CY, Wu CC, Lin SJ, Chou YY, Shiesh SC. High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan. Clin Chim Acta. 2011;412:460-5.

Shu HW, Liu TT, Chang HY, Liu YM, Wu KM, Shu HY, Tsai SF, Hsiao KJ, Hu WS, Ng WV. Genome sequence of the repetitive sequence rich Mycoplasma fermentans strain M64. J Bacteriol. 2011;193:4302-3.

Liu TT, Chiu YH, Chang YC, Chang YH, Niu DM, Yang YL, Ye J, Jiang J, Okano Y, Lee DH, Kuptanon C, Hock NL, Chiong MA, Cavan B, Hsiao KJ. Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations. J Hum Genet. 2012;57:145-52.

Preventive Medicine Foundation, Taipei   (預防醫學基金會)
Updated Mar. 16, 2012 by K.-J.Hsiao 蕭 廣 仁 教 授   ( 臨床生化研究室 )