Sihoun Hahn, MD, PhD

Sihoun Hahn, MD, PhD

Biochemical Genetics, Clinical Genetics, Non-Malignant Transplant Program, Laboratory Medicine

On staff since October 2006

Children's Title: Director of the Wilson Disease Center of Excellence

Academic Title: Professor, Pediatrics; Adjunct Professor, Medicine

Research Center: Center for Integrative Brain Research

  • Biography

    Sihoun Hahn, MD, PhD, is a professor of pediatrics and adjunct professor of medicine at University of Washington and Seattle Children's Hospital as head of biochemical genetics program and the director of biochemical genetics laboratory. Dr. Hahn's research has focused on mitochondrial disorders, metabolic disorders, population screening for Wilsons disease, Cystinosis and Primary immunodeficiencies. His ultimate goal is to develop and validate a specific and quantitative proteomic assay that will simultaneously identify multiple congenital disorders using a small volume of blood dried onto filter paper as newborn screening.

    Dr. Hahn serves as a member of medical advisory committee of the Wilson Disease Association. Wilson Disease is a genetic disease in which the body cannot excrete copper properly leading to its accumulation in various organs including the liver and brain. Dr. Hahn developed and validated clinical genetic test on mitochondrial disorders by high-throughput next generation sequencing technology. Other current projects in his lab focus on developing peptide finger printing analysis by tandem mass spectrometry for various metabolic and genetic disorders including cystinosis and primary immunodeficiencies. Dr. Hahn hopes to improve clinical practice through integrated laboratory testing true translational research. He remains a great believer in prevention: identifying illness and providing interventions to patients before symptoms appear is always preferable to treating developed disease. He is a member of advisory committee for Washington State Newborn Screening.

    • Related Pages

    • Hahn Lab

      Hahn Lab

      The Hahn laboratory focuses on development and validation of assays that have important clinical applications for population screening, diagnosis and prognosis.

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  • Awards and Honors

    Award Name Award Description Awarded By Award Date
    National Research Service Award NIH 1990 - 1992
    Travel Award International Congress of Inborn Errors of Metabolism 1994
    Luminex Award Luminex Award Grant - $100,000 American College of Medical Genetics 2009

  • Publications

    Manuscripts in Refereed Journals

    • Eun SH, Hahn SH
      Metabolic evaluation of children with global developmental delay.
      25932032 Korean journal of pediatrics, 2015 April : 58(4)117-22 PMCID:PMC4414625
    • Schilsky ML, Roberts EA, Hahn S, Askari F
      Costly choices for treating Wilson's disease.
      25524500 Hepatology (Baltimore, Md.), 2015 April : 61(4)1106-8
    • Paciorkowski AR, McDaniel SS, Jansen LA, Tully H, Tuttle E, Ghoneim DH, Tupal S, Gunter SA, Vasta V, Zhang Q, Tran T, Liu YB, Ozelius LJ, Brashear A, Sweadner KJ, Dobyns WB, Hahn S
      Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
      25656163 Epilepsia, 2015 March : 56(3)422-30 PMCID:PMC4363281
    • DaRe JT, Vasta V, Penn J, Tran NT, Hahn SH
      Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.
      24215330 BMC medical genetics, 2013 Nov 11 : 14118 PMCID:PMC3827825
    • Jung S, Tran NT, Gospe SM Jr, Hahn SH
      Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS.
      23953072 Molecular genetics and metabolism, 2013 Nov. : 110(3)237-40
    • Vasta V, Merritt JL 2nd, Saneto RP, Hahn SH
      Next-generation sequencing for mitochondrial diseases reveals wide diagnostic spectrum.
      22494076 Pediatrics international : official journal of the Japan Pediatric Society, 2012 Apr 12
    • Hahn SH
      Targeted next-generation sequencing expands the spectrum of mitochondrial disorders.
      22445237 Genome medicine, 2012 Mar 23 : 4(3)22
    • Hahn SH
      Targeted next-generation sequencing expands the spectrum of mitochondrial disorders.
      22445237 Genome medicine, 2012 Mar 23 : 4(3)22
    • Hahn SH, Kerfoot S, Vasta V
      Assay to measure oxidized and reduced forms of CoQ by LC-MS/MS.
      22215547 Methods in molecular biology (Clifton, N.J.), 2012 : 837169-79
    • Hahn SH, Kerfoot S, Vasta V
      Assay to measure oxidized and reduced forms of CoQ by LC-MS/MS.
      22215547 Methods in molecular biology (Clifton, N.J.), 2012 : 837169-79
    • Merritt JL 2nd, Askenazi D, Hahn SH
      Newborn screening and renal disease: where we have been; where we are now; where we are going.
      21947256 Pediatric nephrology (Berlin, Germany), 2011 Sep 27
    • Chen X, Thorburn DR, Wong LJ, Vladutiu GD, Haas RH, Le T, Hoppel C, Sedensky M, Morgan P, Hahn SH
      Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans.
      21633293 Genetics in medicine : official journal of the American College of Medical Genetics, 2011 Sept. : 13(9)794-9
    • Chen X, Thorburn DR, Wong LJ, Vladutiu GD, Haas RH, Le T, Hoppel C, Sedensky M, Morgan P, Hahn SH
      Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans.
      21633293 Genetics in medicine : official journal of the American College of Medical Genetics, 2011 Sept. : 13(9)794-9
    • Wang GL, Wang J, Douglas G, Browning M, Hahn S, Ganesh J, Cox S, Aleck K, Schmitt ES, Zhang W, Wong LJ
      Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.
      21605995 Molecular genetics and metabolism, 2011 Aug. : 103(4)349-57
    • Bennett J, Hahn SH
      Clinical molecular diagnosis of Wilson disease.
      21901653 Seminars in liver disease, 2011 Aug. : 31(3)233-8
    • Wang GL, Wang J, Douglas G, Browning M, Hahn S, Ganesh J, Cox S, Aleck K, Schmitt ES, Zhang W, Wong LJ
      Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.
      21605995 Molecular genetics and metabolism, 2011 Aug. : 103(4)349-57
    • Yang YY, Vasta V, Hahn S, Gangoiti JA, Opheim E, Sedensky MM, Morgan PG
      The role of DMQ(9) in the long-lived mutant clk-1.
      21745495 Mechanisms of ageing and development, 2011 June : 132(6-7)331-9 PMCID:PMC3156029
    • Yang YY, Vasta V, Hahn S, Gangoiti JA, Opheim E, Sedensky MM, Morgan PG
      The role of DMQ(9) in the long-lived mutant clk-1.
      21745495 Mechanisms of ageing and development, 2011 June : 132(6-7)331-9 PMCID:PMC3156029
    • Esparza EM, Golden AS, Hahn SH, Patterson K, Brandling-Bennett HA
      What syndrome is this? Infantile periorificial and intertriginous dermatitis preceding sepsis-like respiratory failure.
      21615476 Pediatric dermatology, 2011 May : 28(3)333-4
    • Vasta V, Sedensky M, Morgan P, Hahn SH
      Altered redox status of coenzyme Q9 reflects mitochondrial electron transport chain deficiencies in Caenorhabditis elegans.
      20849980 Mitochondrion, 2011 Jan. : 11(1)136-8
    • Vasta V, Sedensky M, Morgan P, Hahn SH
      Altered redox status of coenzyme Q9 reflects mitochondrial electron transport chain deficiencies in Caenorhabditis elegans.
      20849980 Mitochondrion, 2011 Jan. : 11(1)136-8
    • Horslen S, Hahn SH
      Genotype-phenotype correlation in Wilson disease.
      20421802 Journal of clinical gastroenterology, 2010 July : 44(6)387-8
    • Horslen S, Hahn SH
      Genotype-phenotype correlation in Wilson disease.
      20421802 Journal of clinical gastroenterology, 2010 July : 44(6)387-8
    • Sadilkova K, Gospe SM Jr, Hahn SH
      Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures.
      19631689 Journal of neuroscience methods, 2009 Oct 30 : 184(1)136-41
    • Sadilkova K, Gospe SM Jr, Hahn SH
      Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures.
      19631689 Journal of neuroscience methods, 2009 Oct 30 : 184(1)136-41
    • Vasta V, Ng SB, Turner EH, Shendure J, Hahn SH
      Next generation sequence analysis for mitochondrial disorders.
      19852779 Genome medicine, 2009 Oct 23 : 1(10)100 PMCID:PMC2784303
    • Vasta V, Ng SB, Turner EH, Shendure J, Hahn SH
      Next generation sequence analysis for mitochondrial disorders.
      19852779 Genome medicine, 2009 Oct 23 : 1(10)100 PMCID:PMC2784303
    • Bachmann-Gagescu R, Merritt JL 2nd, Hahn SH
      A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene.
      19639391 Journal of inherited metabolic disease, 2009 Jul 29
    • Bachmann-Gagescu R, Merritt JL 2nd, Hahn SH
      A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene.
      19639391 Journal of inherited metabolic disease, 2009 Jul 29
    • Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM Jr
      Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
      19128417 Epilepsia, 2009 May : 50(5)1167-75
    • Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM Jr
      Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
      19128417 Epilepsia, 2009 May : 50(5)1167-75
    • Lee JH, Lee HJ, Bin JH, Hahn SH, Kim SY, Kim HH, Lee WB
      A novel homozygous missense mutation in the factor VII gene of severe factor VII deficiency in a newborn baby.
      19786945 Blood coagulation and fibrinolysis : an international journal in haemostasis and thrombosis, 2009 March : 20(2)161-4
    • deWilde A, Sadilkova K, Sadilek M, Vasta V, Hahn SH
      Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening.
      18845768 Clinical chemistry, 2008 Dec. : 54(12)1961-8
    • deWilde A, Sadilkova K, Sadilek M, Vasta V, Hahn SH
      Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening.
      18845768 Clinical chemistry, 2008 Dec. : 54(12)1961-8
    • Kang HC, Kwon JW, Lee YM, Kim HD, Lee HJ, Hahn SH
      Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes.
      17576572 Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2007 Nov. : 23(11)1301-7
    • Kang HC, Kwon JW, Lee YM, Kim HD, Lee HJ, Hahn SH
      Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes.
      17576572 Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2007 Nov. : 23(11)1301-7
    • Kim JW, Lee SK, Lee ZH, Shin CU, Jung YJ, Jang KT, Lee SH, Hahn SH
      Gene symbol: DSPP.
      17598224 Human genetics, 2007 April : 121(2)299
    • Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D
      Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.
      17304052 Genetics in medicine : official journal of the American College of Medical Genetics, 2007 Feb. : 9(2)108-16
    • Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D
      Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.
      17304052 Genetics in medicine : official journal of the American College of Medical Genetics, 2007 Feb. : 9(2)108-16
    • Oglesbee D, Freedenberg D, Kramer KA, Anderson BD, Hahn SH
      Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis.
      16996407 Pediatric neurology, 2006 Oct. : 35(4)289-92
    • Oglesbee D, Freedenberg D, Kramer KA, Anderson BD, Hahn SH
      Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis.
      16996407 Pediatric neurology, 2006 Oct. : 35(4)289-92
    • Kroll CA, Ferber MJ, Dawson BD, Jacobson RM, Mensink KA, Lorey F, Sherwin J, Cunningham G, Rinaldo P, Matern D, Hahn SH
      Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease.
      16644258 Molecular genetics and metabolism, 2006 Sept. : 89(1-2)134-8
    • Kroll CA, Ferber MJ, Dawson BD, Jacobson RM, Mensink KA, Lorey F, Sherwin J, Cunningham G, Rinaldo P, Matern D, Hahn SH
      Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease.
      16644258 Molecular genetics and metabolism, 2006 Sept. : 89(1-2)134-8
    • Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, Rinaldo P, Matern D
      Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.
      16448836 Molecular genetics and metabolism, 2006 May : 88(1)16-21
    • Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, Rinaldo P, Matern D
      Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.
      16448836 Molecular genetics and metabolism, 2006 May : 88(1)16-21
    • Hahn SH, Minnich SJ, O'Brien JF
      Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia.
      16601903 Journal of inherited metabolic disease, 2006 Feb. : 29(1)235-7
    • Kramer KA, Oglesbee D, Hartman SJ, Huey J, Anderson B, Magera MJ, Matern D, Rinaldo P, Robinson BH, Cameron JM, Hahn SH
      Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts.
      16141288 Clinical chemistry, 2005 Nov. : 51(11)2110-6
    • Kramer KA, Oglesbee D, Hartman SJ, Huey J, Anderson B, Magera MJ, Matern D, Rinaldo P, Robinson BH, Cameron JM, Hahn SH
      Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts.
      16141288 Clinical chemistry, 2005 Nov. : 51(11)2110-6
    • Perri RE, Hahn SH, Ferber MJ, Kamath PS
      Wilson Disease--keeping the bar for diagnosis raised.
      16175588 Hepatology (Baltimore, Md.), 2005 Oct. : 42(4)974
    • Perri RE, Hahn SH, Ferber MJ, Kamath PS
      Wilson Disease--keeping the bar for diagnosis raised.
      16175588 Hepatology (Baltimore, Md.), 2005 Oct. : 42(4)974
    • Ensenauer R, Winters JL, Parton PA, Kronn DF, Kim JW, Matern D, Rinaldo P, Hahn SH
      Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification.
      15915086 Genetics in medicine : official journal of the American College of Medical Genetics, 2005 May : 7(5)339-43
    • Ensenauer R, Winters JL, Parton PA, Kronn DF, Kim JW, Matern D, Rinaldo P, Hahn SH
      Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification.
      15915086 Genetics in medicine : official journal of the American College of Medical Genetics, 2005 May : 7(5)339-43
    • Yoon HR, Lee KR, Kang S, Lee DH, Yoo HW, Min WK, Cho DH, Shin SM, Kim J, Song J, Yoon HJ, Seo S, Hahn SH
      Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report.
      15748614 Clinica chimica acta; international journal of clinical chemistry, 2005 April : 354(1-2)167-80
    • Yoon HR, Lee KR, Kang S, Lee DH, Yoo HW, Min WK, Cho DH, Shin SM, Kim J, Song J, Yoon HJ, Seo S, Hahn SH
      Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report.
      15748614 Clinica chimica acta; international journal of clinical chemistry, 2005 April : 354(1-2)167-80
    • Tortorelli S, Hahn SH, Cowan TM, Brewster TG, Rinaldo P, Matern D
      The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I.
      15670719 Molecular genetics and metabolism, 2005 Feb. : 84(2)137-43
    • Kim JW, Hu JC, Lee JI, Moon SK, Kim YJ, Jang KT, Lee SH, Kim CC, Hahn SH, Simmer JP
      Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II.
      15592686 Human genetics, 2005 Feb. : 116(3)186-91
    • Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grünert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D
      A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
      15486829 American journal of human genetics, 2004 Dec. : 75(6)1136-42 PMCID:PMC1182150
    • Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grünert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D
      A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
      15486829 American journal of human genetics, 2004 Dec. : 75(6)1136-42 PMCID:PMC1182150
    • Minutti CZ, Lacey JM, Magera MJ, Hahn SH, McCann M, Schulze A, Cheillan D, Dorche C, Chace DH, Lymp JF, Zimmerman D, Rinaldo P, Matern D
      Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.
      15292289 The Journal of clinical endocrinology and metabolism, 2004 Aug. : 89(8)3687-93
    • Kim JW, Nam SH, Jang KT, Lee SH, Kim CC, Hahn SH, Hu JC, Simmer JP
      A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II.
      15241678 Human genetics, 2004 Aug. : 115(3)248-54
    • Minutti CZ, Lacey JM, Magera MJ, Hahn SH, McCann M, Schulze A, Cheillan D, Dorche C, Chace DH, Lymp JF, Zimmerman D, Rinaldo P, Matern D
      Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.
      15292289 The Journal of clinical endocrinology and metabolism, 2004 Aug. : 89(8)3687-93
    • McKinney JT, Longo N, Hahn SH, Matern D, Rinaldo P, Strauss AW, Dobrowolski SF
      Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene.
      15171998 Molecular genetics and metabolism, 2004 June : 82(2)112-20
    • Lacey JM, Minutti CZ, Magera MJ, Tauscher AL, Casetta B, McCann M, Lymp J, Hahn SH, Rinaldo P, Matern D
      Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry.
      14656905 Clinical chemistry, 2004 March : 50(3)621-5
    • Lacey JM, Minutti CZ, Magera MJ, Tauscher AL, Casetta B, McCann M, Lymp J, Hahn SH, Rinaldo P, Matern D
      Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry.
      14656905 Clinical chemistry, 2004 March : 50(3)621-5
    • Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M
      Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
      14732903 American journal of human genetics, 2004 Feb. : 74(2)239-52 PMCID:PMC1181922
    • Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M
      Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
      14732903 American journal of human genetics, 2004 Feb. : 74(2)239-52 PMCID:PMC1181922
    • Park HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ
      Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.
      12676893 Journal of medical genetics, 2003 April : 40(4)242-8 PMCID:PMC1735432
    • Fu X, Rinaldo P, Hahn SH, Kodama H, Packman S
      Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes.
      12872841 Journal of inherited metabolic disease, 2003 : 26(1)55-66
    • Kim SN, Ryu KH, Lee EH, Kim JS, Hahn SH
      Molecular analysis of PCCB gene in Korean patients with propionic acidemia.
      12409268 Molecular genetics and metabolism, 2002 Nov. : 77(3)209-16
    • Kim SN, Ryu KH, Lee EH, Kim JS, Hahn SH
      Molecular analysis of PCCB gene in Korean patients with propionic acidemia.
      12409268 Molecular genetics and metabolism, 2002 Nov. : 77(3)209-16
    • Hahn SH, Lee SY, Jang YJ, Kim SN, Shin HC, Park SY, Han HS, Yu ES, Yoo HW, Lee JS, Chung CS, Lee SY, Lee DH
      Pilot study of mass screening for Wilson's disease in Korea.
      12083810 Molecular genetics and metabolism, 2002 June : 76(2)133-6
    • Hahn SH, Lee SY, Jang YJ, Kim SN, Shin HC, Park SY, Han HS, Yu ES, Yoo HW, Lee JS, Chung CS, Lee SY, Lee DH
      Pilot study of mass screening for Wilson's disease in Korea.
      12083810 Molecular genetics and metabolism, 2002 June : 76(2)133-6
    • Hahn SH, Lee SY, Jang YJ, Kim SN, Shin HC, Park SY, Han HS, Yu ES, Yoo HW, Lee JS, Chung CS, Lee SY, Lee DH
      Pilot study of mass screening for Wilson's disease in Korea.
      12083810 Molecular genetics and metabolism, 2002 June : 76(2)133-6
    • Oh WJ, Kim EK, Ko JH, Yoo SH, Hahn SH, Yoo OJ
      Nuclear proteins that bind to metal response element a (MREa) in the Wilson disease gene promoter are Ku autoantigens and the Ku-80 subunit is necessary for basal transcription of the WD gene.
      11985593 European journal of biochemistry / FEBS, 2002 April : 269(8)2151-61
    • Oh WJ, Kim EK, Ko JH, Yoo SH, Hahn SH, Yoo OJ
      Nuclear proteins that bind to metal response element a (MREa) in the Wilson disease gene promoter are Ku autoantigens and the Ku-80 subunit is necessary for basal transcription of the WD gene.
      11985593 European journal of biochemistry / FEBS, 2002 April : 269(8)2151-61
    • Yoon HR, Hahn SH, Ahn YM, Jang SH, Shin YJ, Lee EH, Ryu KH, Eun BL, Rinaldo P, Yamaguchi S
      Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin.
      11916321 Journal of inherited metabolic disease, 2001 Dec. : 24(8)870-3
    • Hahn SH, Yoo OJ, Gahl WA
      Effect of metal ions on the stability of metallothionein in the degradation by cellular fractions in vitro.
      11322484 Experimental and molecular medicine, 2001 Mar 31 : 33(1)32-6
    • Hong KM, Paik MK, Yoo OJ, Hahn SH
      The first successful prenatal diagnosis on a Korean family with citrullinemia.
      11211875 Molecules and cells, 2000 Dec 31 : 10(6)692-4
    • Kim SZ, Kupke KG, Ierardi-Curto L, Holme E, Greter J, Tanguay RM, Poudrier J, D'Astous M, Lettre F, Hahn SH, Levy HL
      Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.
      11196105 Journal of inherited metabolic disease, 2000 Dec. : 23(8)791-804
    • Hong KM, Shin CH, Choi YB, Song WK, Lee SD, Rhee KI, Jang P, Pak GS, Kim JK, Paik MK, Hahn SH
      Mutation analysis of Korean patients with citrullinemia.
      10987146 Molecules and cells, 2000 Aug 31 : 10(4)465-8
    • Lee EH, Park JH, Coe CJ, Hahn SH
      A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case.
      10923050 Human mutation, 2000 Aug. : 16(2)180-1
    • Hong KM, Hahn SH, Paik MK
      Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia.
      10862106 Human mutation, 2000 June : 15(6)585
    • Lee JY, Yoo KH, Hahn SH
      HFE gene mutation, C282Y causing hereditary hemochromatosis in Caucasian is extremely rare in Korean population.
      10803694 Journal of Korean medical science, 2000 April : 15(2)179-82 PMCID:PMC3054623
    • Hahn SH, Lee EH, Jung JW, Hong CH, Yoon HR, Rinaldo P, Sims H, Gibson B, Strauss AW
      Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.
      10431122 The Journal of pediatrics, 1999 Aug. : 135(2 Pt 1)250-3
    • Oh WJ, Kim EK, Park KD, Hahn SH, Yoo OJ
      Cloning and characterization of the promoter region of the Wilson disease gene.
      10334941 Biochemical and biophysical research communications, 1999 May 27 : 259(1)206-11
    • Kim EK, Yoo OJ, Song KY, Yoo HW, Choi SY, Cho SW, Hahn SH
      Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.
      9554743 Human mutation, 1998 : 11(4)275-8
    • Jeong H, Kim M, Lee J, Hahn SH, Park S, Yoo OJ
      A 5-nucleotide insertion in the antithrombin gene causing a quantitative antithrombin deficiency.
      9031474 Thrombosis and haemostasis, 1997 Jan. : 77(1)212-3
    • Yim SY, Lee IY, Rah UW, Moon HW, Hahn SH, Lee ES, Yim HL
      Linear and whorled nevoid hypermelanosis with delayed psychomotor development.
      8942300 Yonsei medical journal, 1996 Aug. : 37(4)290-4
    • Goldstein DS, Hahn SH, Holmes C, Tifft C, Harvey-White J, Milstien S, Kaufman S
      Monoaminergic effects of folinic acid, L-DOPA, and 5-hydroxytryptophan in dihydropteridine reductase deficiency.
      7760062 Journal of neurochemistry, 1995 June : 64(6)2810-3
    • Hahn SH, Tanner MS, Danks DM, Gahl WA
      Normal metallothionein synthesis in fibroblasts obtained from children with Indian childhood cirrhosis or copper-associated childhood cirrhosis.
      8581360 Biochemical and molecular medicine, 1995 April : 54(2)142-5
    • Hahn SH, Krasnewich D, Brantly M, Kvittingen EA, Gahl WA
      Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
      7550234 Human mutation, 1995 : 6(1)66-73
    • Hahn SH, Brantly ML, Oliver C, Adamson M, Kaler SG, Gahl WA
      Metallothionein synthesis and degradation in Indian childhood cirrhosis fibroblasts.
      8165055 Pediatric research, 1994 Feb. : 35(2)197-204
    • Hahn SH, Gahl WA
      Copper effects on metal regulatory factors of cultured human fibroblasts.
      8123298 Biochemical medicine and metabolic biology, 1993 Dec. : 50(3)346-57

    Other Publications

    • Schilsky ML, Roberts EA, Hahn S, Askari F
      Costly choices for treating Wilson's disease.
      25524500 Hepatology (Baltimore, Md.), 2015 April : 61(4)1106-8
    • Paciorkowski AR, McDaniel SS, Jansen LA, Tully H, Tuttle E, Ghoneim DH, Tupal S, Gunter SA, Vasta V, Zhang Q, Tran T, Liu YB, Ozelius LJ, Brashear A, Sweadner KJ, Dobyns WB, Hahn S
      Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
      25656163 Epilepsia, 2015 March : 56(3)422-30 PMCID:PMC4363281
    • Eun SH, Hahn SH.
      Metabolic evaluation of children with global developmental delay.
      Korean J Pediatric, 2015 : (15)355-359
      Review Article
    • Hahn SH.
      Population Screening for Wilson disease.
      Ann N Y Acad Sci., 2014 May : (1315)64-69
      Review Article
    • Vasta V, Hahn SH
      Application of Next-Generation Sequencing of Nuclear Genes for Mitochondrial Disorders
      Wong LJ eds. Translational Next Generation Sequencing Springer, NY, USA, 2013
    • Hahn SH
      Targeted next-generation sequencing expands the spectrum of mitochondrial disorders.
      Genome medicine, 2012 Mar 23 : 4(3)22
      Review Article
    • Merritt JL 2nd, Askenazi D, Hahn SH.
      Newborn Screening and Renal Disease: Where We Have Been, Where We Are Now, Where We Are Going Pediatric
      Nephrology, 2011 Sep 27
      Review Article
    • Bennett J, Hahn SH.
      Clinical molecular diagnosis of Wilson disease.
      Seminars in Liver Disease, 2011 Aug. : 31(3)233-238
    • Bennett J, Hahn SH
      Clinical molecular diagnosis of Wilson disease.
      21901653 Seminars in liver disease, 2011 Aug. : 31(3)233-8
      Review Article
    • Hahn SH, Merritt JL II
      Inherited Metabolic Disorders.
      Oxford American Handbook of Pediatrics, F. Bruder Stapleton eds., 2009
    • Hahn SH, Shin YL
      Disorders of Metal Transport.
      Lee DH eds. Inborn Metabolic Disorders, 1st ed. Korea Medical Book Publisher Co, 2008
    • 8. Hahn SH, Lee YM
      Disorders of Mitochondrial Respiratory Chains
      Lee DH eds. Inborn Metabolic Disorders, 1st ed. Korea Medical Book Publisher Co., 2008
    • 7. Hahn SH, Lee YM
      Disorders of Pyruvate Metabolism
      Lee DH eds. Inborn Metabolic Disorders, 1st ed. Korea Medical Book Publisher Co, 2008
    • Hahn SH
      Diagnosis of Wilson disease.
      Communiqué, Mayo Clinic,, 2005 Feb.
      Review Article
    • Rinaldo P, Hahn S, Matern D
      Inborn errors of amino acid, organic acid, and fatty acid metabolism.
      Burtis CA, Ashwood ER, Bruns DE, eds. Tietz Textbook of Clinical Chemistry and Molecular Diagnostics, 2005 : (4th Editio)2207-47
    • Rinaldo P, Hahn S, Matern D.
      Disorders of fatty acid oxidation: Implications for liver disease in children and their mothers.
      Suchy FJ, Fitz JG, Maher JJ, Eds. Mechanisms of acute & chronic disease, American Association for Study of Liver Disease (Postgraduate Course Syllabus), 2002 : 151-154
      Review Article
    • Hahn SH
      Porphyria
      Textbook of Pediatrics (Korean). Hong CH ed. Korean Textbook Co., Seoul, 2001 : 216-218
    • Hahn SH
      Purine/Pyrimidine Defects
      Textbook of Pediatrics (Korean). Hong CH ed., 2001 : 212-214
    • Hahn SH
      Mucopolysaccharidoses
      Textbook of Pediatrics (Korean)., 2001 : 210-212
    • Hahn SH
      Copper Transport Defects
      Textbook of Pediatrics (Korean). Hong CH ed., 2001 : 214-216
    • Hahn SH
      Molecular biological advances in human copper metabolism: Molecular genetics.
      Kor J Hepatol., 1998 : (4)223-234
      Review Article
    • Hahn SH
      Metabolic diseases in newborn period.
      J Kor Child Neurol Soc, 1998 : (6)177-191
      Review Article
    • Hahn SH
      Molecular biology in cancer genetics.
      J Kor Acad Pediatr., 1996 : (39)166-173
      Review Article

  • Presentations

    Presentation Title Event Location Date
    Genomics in Medicine: Personal experience and prospect. Gachon University Gil Hospital Incheon, Korea Aug 5, 2015
    Genomics in Medicine: Personal experience and prospect. Korean University Medical Center Seoul, Korea Aug 3, 2015
    Precision Medicine: Raising the bar for education, training and practice. Korea University Medical Center Seoul, Korea Apr 16, 2014
    One human, multiple mutations, multiple genomes Symposium, Gachon University Gil Hospital Incheon, Korea Nov 18, 2013
    One human, multiple mutations, multiple genomes. Symposium, Asan Medical Center Seoul, Korea Nov 15, 2013
    A clinical application of targeted NGS for mitochondrial disorders expands the diagnostic spectrum Individualizing Medicine Conference Mayo Clinic, Rochester, MN Sep 30, 2013 - Oct 2, 2013
    Targeted NGS for Mitochondrial Disorders KSEA-NWRD 2013 Seattle, WA Sep 21, 2013
    The Conundrum of Mitochondrial Disorders Pediatric Grand Round, Seoul National University Childrens Hospital, Seoul, Korea May 14, 2013
    Translational Research: Clinical Applications of Proteomics and Genomics Biomarker Symposium Seoul National University Hospital Research Institute, Seoul, Korea May 13, 2013
    Medical Genetics and Genomics Era: What do we think and what do we do? Korean Child Neurology Society Yeosu, Korea May 10, 2013
    Advances in Molecular Diagnostics and the Future for Screening for Wilson Disease Human Disorders of Copper Metabolism Workshop Johns Hopkins University, Baltimore, MD Apr 8, 2013 - Apr 9, 2013
    Redefining the Diagnostic Spectrum of Mitochondrial Disorders by Next Generation Sequencing. Mitochondrial Biology conference. The mitochondrial conundrum: When testing does not lead to a diagnosis Bell Harbor International Conference Center, Seattle, WA Aug 24, 2012
    Redefining the diagnostic spectrum of mitochondrial disorders by the clinical application of next generation sequencing technology. 2nd ACIMD/12th AEWIEM/12th KCIMD joint meeting Seoul, Korea Apr 1, 2012 - Apr 4, 2012
    Partnering Academic Centers with Industrial Genetic Testing Focus on Next Generation Sequencing for Mitochondrial Disorders. NIH Workshop: Translational Research in Primary Mitochondrial Diseases; Obstacles and Opportunities Rockville, MD Mar 8, 2012 - Mar 9, 2012
    Tryptic Peptide Analysis of WBC to Diagnose Genetic disorders: Application to Primary Immunodeficiency Disorders and Nephropathic Cystinosis. American Society of Human Genetics Montreal, Canada Oct 15, 2011
    Tryptic peptide analysis of Wilson disease by LC-MS/MS. International Conference on Metals and Genetics Kobe, Japan Sep 4, 2011 - Sep 8, 2011
    A Lesson from Next-Generation Sequencing for Targeted Mitochondrial Diseases: Redefining the Diagnostic Spectrum Genetic Grand Round, Providence Sacred Heart Hospital Spokane, WA Aug 17, 2011
    Next-generation sequencing for clinical application to target mitochondrial disorders. Keynote speaker Garrod Symposium Calgary, Canada Jun 10, 2011
    Genetic Approach to Metabolic Conditions American Society of Neuroradiology Seattle, WA Jun 7, 2011
    Challenges in the Clinical Application of Next-Generation Sequencing for Mitochondrial Disorders. 2010 Illumina Regional Sequencing User Group Meeting Seattle, WA Jul 30, 2010
    Diagnostic challenges in mitochondrial disorders Korea University Medical Center, Guro Hospital Seoul, Korea May 13, 2010
    Diagnostic challenges in mitochondrial disorders Samsung Medical Center Seoul, Korea May 12, 2010
    The recent advance in the diagnosis of genetic disorders Korean Child Neurology Society Incheon, Korea Apr 14, 2010
    Next Generation Sequence Analysis for Mitochondrial Disorders International Congress of Inborn Errors of Metabolism San Diego, CA Aug 30, 2009
    Molecular Genetic Testing for Wilson Disease Wilson Disease Symposium, California Pacific Medical Center San Francisco, CA May 2, 2009
    Conundrum of Wilson Disease XVI World Congress of Psychiatric Genetics Osaka, Japan Oct 12, 2008 - Oct 15, 2008
    Challenges in the diagnosis of metabolic diseases Mary Bridge Children's Hospital Pediatric Neuroscience Conference Tacoma, WA Apr 25, 2008
    Challenges in the diagnosis of metabolic diseases Madigan Hospital Developmental Pediatrics Round Tacoma, WA Apr 15, 2008
    Wilsons disease. The Northwest Pediatric Liver Disease Symposium Seattle, WA Apr 11, 2008 - Apr 12, 2008
    Newborn screening for Wilson disease Wilson Dsease Association Regional Meeting Seattle, WA Nov 11, 2007
    The expansion of Newborn Screening: Will there be a limit? Laboratory Medicine Grand Round, UW Seattle, WA May 9, 2007
    Population screening for Wilson disease in the U.S. International Workshop for Wilson Disease Bethesda, MD Nov 2, 2006 - Nov 3, 2006
    Peroxisomal proliferation activator receptor (PPAR) agonists as a potential therapeutic use for patients with mitochondrial disorders Research Forum, Mayo Clinic Rochester, MN Apr 21, 2006

  • Research Funding

    Grant Title Grantor Amount Award Date
    Multiplexed Immune-SRM screening for primary immunodeficiencies National Institute of Health/National Institute of Allergy and Infectious Diseases 2016 - 2020
    Hypophosphatasia Prevalence Study Industry Sponsored Study (Alexion) 2015
    Newborn Screening for Cystinosis Cystinosis Research Foundation (CRF) 2015 - 2016
    Multiplex Test for Primary Immunodeficiencies by Affinity Column coupled to MS/MS (R56 AI106784-01A1) National Institute of Health/National Institute of Allergy and Infectious Diseases 2014 - 2015
    Peptide Immunoaffinity enriched LC-MRM-MS analysis for Cystinosis/Wilson Disease (1R21HD069890-01A1) National Institute of Health/National Institute of Child Health and Development, USA 2013 - 2015
    A Phase 4, Open-Label, Prospective Study in Patients with Pompe Disease to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale Industry Sponsored Clinical Trial (Genzyme) 2012
    HGT-HIT-046 An Open-Label Extension Study of HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase-IT Administered in Conjunction with Intravenous Elaprase in Pediatric Patients with Hunter Syndrome and Cognitive Im Industry Sponsored Clinical Trial (Shire) 2011
    MPS VI Clinical Surveillance Program Industry Sponsored Registry (BioMarin) 2011
    Hunter Outcome Survey: A Global, Multi-Center, Long-Term, Observational Survey of Patients with Hunter Syndrome (Mucopolysaccharidosis II) Industry Sponsored Registry (Shire) 2011
    HGT-HIT-045: A PhaseI/II Randomized Safety and Ascending Dose Ranging Study of Idursulfase (Intrathecal) Administration via an Intrathecal Drug Delivery Device in Pediatric Patients with Hunter Syndrome who Demonstrate Evidence of Central Nervous Sys Industry Sponsored Clinical Trial (Shire) 2011
    Lysosomal Storage Disorders (LSD) Registries Program Industry Sponsored Registry (Genzyme) 2011

Overview

Medical/Professional School

Korea University College of Medicine, Seoul 136-705, South Korea

Residency

Korea University-College Of Medicine, Seongbuk-Gu Seoul

Fellowship

Warren G Magnuson Clinical Center/National Institu, Bethesda, MD

Clinical Interests

Copper transport disorders; Mitochondrial disorders

Research Description

My research has been focusing on copper metabolism, population screening for Wilson's disease and mitochondrial disease. The work focuses on developing a newborn screening using tandem mass spectrometry for Wilson's disease, a genetic disease in which the body cannot excrete copper properly leading to its accumulation in various organs including the liver and brain. I am developing an assay that quickly determines if the mitochondrial disease is present. I hope to improve clinical practice through integrated laboratory testing-true translational research.

Research Focus Area

Biochemical Genetics, Genetics and Developmental Biology, Health Promotion and Disease Prevention, Mitochondrial disease