Kwang-Jen Hsiao, Ph.D.                  蕭 廣 仁 教 授

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

1990 ---- present    Adjunct Investigator, Department of Medical Research, 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 醫學研究部 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

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. 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).

4. 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.

5. Newborn Critical Congenital Heart Disease (CCHD) Screening Program: Developing an integrated newborn critical congenital heart disease (CCHD) screening system helping local government to implement CCHD 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. 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。(成果論文)

4. 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。(成果論文)

5. 新生兒危急型先天心臟病篩檢計畫 : 規劃發展區域性整體新生兒危急型先天心臟病篩檢系統，協助地方政府推廣新生兒危急型先天心臟病篩檢全面篩檢。(成果論文 2016, 2023)

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 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.

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.

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.

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, Qi Y, 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.

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

Liu YC, Lin IH, Chung WJ, Hu WS, NgWV, Lu CY, Huang TY, Shu HW, Hsiao KJ, Tsai SF, Chang CH, Lin CH. Proteomics characterization of cytoplasmic and lipid-associated membrane proteins of human pathogen Mycoplasma fermentans M64. PLoS One. 2012;7:e35304.

Liu MY, Liu TT, Yang YL, Chang YC, Fan YL, Lee SF, Teng YT, Chiang SH, Niu DM, Lin SJ, Chao MC, Lin SP, Han LS, Qi Y, Hsiao KJ. Mutation profile of the MUT gene in Chinese methylmalonic aciduria patients. JIMD Reports 2012; 6:55-64, DOI: 10.1007/8904_2011_117.

Huang HM, Chiang SH, Shiau YS, Yeh WY, Ho HC, Wang L, Chen SC, Lin HC, Chen KC, Chiang H, Yang MC, Yu LH, Lin HL, Chiu AW, Hsiao KJ. The universal newborn hearing screening program of Taipei City. Int J Pediatr Otorhinolaryngol 2013;77:1734-7. DOI: 10.1016/j.ijporl.2013.08.004.

Liang Y, Huang MZ, Cheng CY, Chao HK, Fwu VT, Chiang SH, Hsiao KJ, Niu DM, Su TS. The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population. J Hum Genet 2014;59:145-52. DOI: 10.1038/jhg.2013.136.

Chiu YH, Liu YN, Liao WL, Chang YC, Lin SP, Hsu CC, Chiu PC, Niu DM, Wang CH, Ke YY, Chien YH, Hsiao KJ, Liu TT. Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan. Biochem Genet 2014;52: 415-29. DOI: 10.1007/s10528-014-9657-6.

Verma J, Thomas DC, Sharma S, Jhingan G, Singh A, Hsiao KJ, Schoonderwoerd K, Puri RD, Verma IC. Inherited metabolic disorders: Quality management for laboratory diagnosis. Clin Chim Acta 2015;447:1-7. DOI: 10.1016/j.cca.2015.04.040.

Liu YN, Liu TT, Fan YL, Niu DM, Chien YH, Chou YY, Lee NC, Hsiao KJ, Chiu YH. Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography. Clin Chim Acta 2016;453:13-20. DOI: 10.1016/j.cca.2015.11.023.

Tsao PC, Shiau YS, Chiang SH, Ho HC, Liu YL, Chung YF, Lin LJ, Chen MR, Chang JK, Soong WJ, Lin HL, Hwang B, Hsiao KJ. Development of a Newborn Screening Program for Critical Congenital Heart Disease (CCHD) in Taipei. PLoS One. 2016;11:e0153407. DOI: 10.1371/journal.pone.0153407.

Tsao PC, Yeh HL, Chang YC, Chiang PH, Shiau YS, Chiang SH, Soong WJ, Jeng MJ, Hsiao KJ. Outcomes of neonatal jaundice in Taiwan. Arch Dis Child 2018;103:927-9. DOI: 10.1136/archdischild-2017-314063.

Muniz JRC, Szeto NWS, Cocking R, Wang XS, Th?ny B, Himmelreich N, Blau N, Hsiao KJ, Liu TT, Gileadi O, Oppermann U, Yue WW, Tang NLS. Role of protein structure in variant annotation: Structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency. Pathology 2019;51:274-80. DOI: 10.1016/j.pathol.2018.11.011.

Chiu YH, Chen HJ, Chang YC, Liu YN, Kao SM, Liu MY, Weng YY, Hsiao KJ, Liu TT. Applying a multiplexed primer extension method on dried blood spots increased the detection of carriers at risk of glucose-6-phosphate dehydrogenase deficiency in newborn screening program. Clin Chim Acta 2019;495:271-7. DOI: 10.1016/j.cca.2019.04.074.

Chiu YH, Liu YN, Chen HJ, Chang YC, Kao SM, Liu MY, Weng YY, Hsiao KJ, Liu TT. Prediction of functional consequences of the five newly discovered G6PD variations in Taiwan. Data Brief 2019;25:104129. DOI: 10.1016/j.dib.2019.104129.

Tsao PC, Yeh HL, Shiau YS, Chang YC, Chiang SH, Soong WJ, Jeng MJ, Hsiao KJ, Chiang PH. Long-term neurodevelopmental outcomes of significant neonatal jaundice in Taiwan from 2000-2003: a nationwide, population-based cohort study. Sci Rep 2020;10:11374. DOI: 10.1038/s41598-020-68186-w.

Tsao PC, Chiang SH, Shiau YS, Chen HY, Lin HL, Ho HC, Chen MR, Chang JK, Wang JK, Chiu SN, Jeng MJ, Hsiao KJ. Comparing strategies for critical congenital heart disease newborn screening. Pediatrics 2023;151:e2022057862. DOI: 10.1542/peds.2022-057862.

Preventive Medicine Foundation, Taipei   (預防醫學基金會)
Updated Feb. 24, 2023 by K.-J.Hsiao 蕭 廣 仁 教 授   ( 臨床生化研究室 )