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Sihoun Hahn, MD, PhD

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Sihoun Hahn, MD, PhD

Mitochondrial Medicine, Genetics, Biochemical Genetics

On staff since October 2006

Children's Title: Director, Biochemical Genetics

Academic Title: Professor

Research Center: Center for Developmental Therapeutics

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Overview

Board Certification(s)
Clinical Biochemical Genetics
Clinical Genetics (MD)
Medical/Professional School
Korea University College of Medicine, Seoul
Korea University College of Medicine, Seoul
Residency
Pediatrics, Korea University College of Medicine, Seoul
Fellowship
Medical Genetics, National Institute of Health, Bethesda
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.

Lab URL

http://www.seattlechildrens.org/geneticslab

Research Focus Area

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

Awards and Honors

Award NameAward DescriptionAwarded ByAward Date
Luminex AwardLuminex Award Grant - $100,000American College of Medical Genetics 2009
Travel AwardInternational Congress of Inborn Errors of Metabolism 1994
National Research Service AwardNIH 1990 - 1992

Publications

Next-generation sequencing for mitochondrial diseases reveals wide diagnostic spectrum.
Pediatrics international : official journal of the Japan Pediatric Society , 2012 Apr 12
Targeted next-generation sequencing expands the spectrum of mitochondrial disorders.
Genome medicine , 2012 Mar 23: 4(3)22
Targeted next-generation sequencing expands the spectrum of mitochondrial disorders.
Genome medicine , 2012 Mar 23: 4(3)22
Assay to measure oxidized and reduced forms of CoQ by LC-MS/MS.
Methods in molecular biology (Clifton, N.J.) , 2012: 837169-79
Assay to measure oxidized and reduced forms of CoQ by LC-MS/MS.
Methods in molecular biology (Clifton, N.J.) , 2012: 837169-79
Newborn screening and renal disease: where we have been; where we are now; where we are going.
Pediatric nephrology (Berlin, Germany) , 2011 Sep 27
Newborn screening and renal disease: where we have been; where we are now; where we are going.
Pediatric nephrology (Berlin, Germany) , 2011 Sep 27
Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans.
Genetics in medicine : official journal of the American College of Medical Genetics , 2011 Sep: 13(9)794-9
Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans.
Genetics in medicine : official journal of the American College of Medical Genetics , 2011 Sep: 13(9)794-9
Clinical molecular diagnosis of Wilson disease.
Seminars in liver disease , 2011 Aug: 31(3)233-8
Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.
Molecular genetics and metabolism , 2011 Aug: 103(4)349-57
Clinical molecular diagnosis of Wilson disease.
Seminars in liver disease , 2011 Aug: 31(3)233-8
Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.
Molecular genetics and metabolism , 2011 Aug: 103(4)349-57
The role of DMQ(9) in the long-lived mutant clk-1.
Mechanisms of ageing and development , 2011 Jun-Jul: 132(6-7)331-9
The role of DMQ(9) in the long-lived mutant clk-1.
Mechanisms of ageing and development , 2011 Jun-Jul: 132(6-7)331-9
What syndrome is this? Infantile periorificial and intertriginous dermatitis preceding sepsis-like respiratory failure.
Pediatric dermatology , 2011 May-Jun: 28(3)333-4
Altered redox status of coenzyme Q9 reflects mitochondrial electron transport chain deficiencies in Caenorhabditis elegans.
Mitochondrion , 2011 Jan: 11(1)136-8
Altered redox status of coenzyme Q9 reflects mitochondrial electron transport chain deficiencies in Caenorhabditis elegans.
Mitochondrion , 2011 Jan: 11(1)136-8
Genotype-phenotype correlation in Wilson disease.
Journal of clinical gastroenterology , 2010 Jul: 44(6)387-8
Genotype-phenotype correlation in Wilson disease.
Journal of clinical gastroenterology , 2010 Jul: 44(6)387-8
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.
Journal of neuroscience methods , 2009 Oct 30: 184(1)136-41
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.
Journal of neuroscience methods , 2009 Oct 30: 184(1)136-41
Next generation sequence analysis for mitochondrial disorders.
Genome medicine , 2009 Oct 23: 1(10)100
Next generation sequence analysis for mitochondrial disorders.
Genome medicine , 2009 Oct 23: 1(10)100
A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene.
Journal of inherited metabolic disease , 2009 Jul 29
A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene.
Journal of inherited metabolic disease , 2009 Jul 29
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
Epilepsia , 2009 May: 50(5)1167-75
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
Epilepsia , 2009 May: 50(5)1167-75
A novel homozygous missense mutation in the factor VII gene of severe factor VII deficiency in a newborn baby.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis , 2009 Mar: 20(2)161-4
Inherited Metabolic Disorders.
Oxford American Handbook of Pediatrics, F. Bruder Stapleton eds. , 2009
Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening.
Clinical chemistry , 2008 Dec: 54(12)1961-8
Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening.
Clinical chemistry , 2008 Dec: 54(12)1961-8
Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery , 2007 Nov: 23(11)1301-7
Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery , 2007 Nov: 23(11)1301-7
Gene symbol: DSPP.
Human genetics , 2007 Apr: 121(2)299
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.
Genetics in medicine : official journal of the American College of Medical Genetics , 2007 Feb: 9(2)108-16
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.
Genetics in medicine : official journal of the American College of Medical Genetics , 2007 Feb: 9(2)108-16
Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis.
Pediatric neurology , 2006 Oct: 35(4)289-92
Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis.
Pediatric neurology , 2006 Oct: 35(4)289-92
Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease.
Molecular genetics and metabolism , 2006 Sep-Oct: 89(1-2)134-8
Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease.
Molecular genetics and metabolism , 2006 Sep-Oct: 89(1-2)134-8
Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.
Molecular genetics and metabolism , 2006 May: 88(1)16-21
Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.
Molecular genetics and metabolism , 2006 May: 88(1)16-21
Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia.
Journal of inherited metabolic disease , 2006 Feb: 29(1)235-7
Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts.
Clinical chemistry , 2005 Nov: 51(11)2110-6
Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts.
Clinical chemistry , 2005 Nov: 51(11)2110-6
Wilson Disease--keeping the bar for diagnosis raised.
Hepatology (Baltimore, Md.) , 2005 Oct: 42(4)974
Wilson Disease--keeping the bar for diagnosis raised.
Hepatology (Baltimore, Md.) , 2005 Oct: 42(4)974
Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification.
Genetics in medicine : official journal of the American College of Medical Genetics , 2005 May-Jun: 7(5)339-43
Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification.
Genetics in medicine : official journal of the American College of Medical Genetics , 2005 May-Jun: 7(5)339-43
Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report.
Clinica chimica acta; international journal of clinical chemistry , 2005 Apr: 354(1-2)167-80
Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report.
Clinica chimica acta; international journal of clinical chemistry , 2005 Apr: 354(1-2)167-80
The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I.
Molecular genetics and metabolism , 2005 Feb: 84(2)137-43
Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II.
Human genetics , 2005 Feb: 116(3)186-91
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
American journal of human genetics , 2004 Dec: 75(6)1136-42
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
American journal of human genetics , 2004 Dec: 75(6)1136-42
Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.
The Journal of clinical endocrinology and metabolism , 2004 Aug: 89(8)3687-93
A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II.
Human genetics , 2004 Aug: 115(3)248-54
Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.
The Journal of clinical endocrinology and metabolism , 2004 Aug: 89(8)3687-93
Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene.
Molecular genetics and metabolism , 2004 Jun: 82(2)112-20
Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry.
Clinical chemistry , 2004 Mar: 50(3)621-5
Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry.
Clinical chemistry , 2004 Mar: 50(3)621-5
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
American journal of human genetics , 2004 Feb: 74(2)239-52
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
American journal of human genetics , 2004 Feb: 74(2)239-52
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.
Journal of medical genetics , 2003 Apr: 40(4)242-8
Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes.
Journal of inherited metabolic disease , 2003: 26(1)55-66
Molecular analysis of PCCB gene in Korean patients with propionic acidemia.
Molecular genetics and metabolism , 2002 Nov: 77(3)209-16
Molecular analysis of PCCB gene in Korean patients with propionic acidemia.
Molecular genetics and metabolism , 2002 Nov: 77(3)209-16
Pilot study of mass screening for Wilson's disease in Korea.
Molecular genetics and metabolism , 2002 Jun: 76(2)133-6
Pilot study of mass screening for Wilson's disease in Korea.
Molecular genetics and metabolism , 2002 Jun: 76(2)133-6
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.
European journal of biochemistry / FEBS , 2002 Apr: 269(8)2151-61
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.
European journal of biochemistry / FEBS , 2002 Apr: 269(8)2151-61
Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin.
Journal of inherited metabolic disease , 2001 Dec: 24(8)870-3
Effect of metal ions on the stability of metallothionein in the degradation by cellular fractions in vitro.
Experimental & molecular medicine , 2001 Mar 31: 33(1)32-6
The first successful prenatal diagnosis on a Korean family with citrullinemia.
Molecules and cells , 2000 Dec 31: 10(6)692-4
Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.
Journal of inherited metabolic disease , 2000 Dec: 23(8)791-804
Mutation analysis of Korean patients with citrullinemia.
Molecules and cells , 2000 Aug 31: 10(4)465-8
A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case.
Human mutation , 2000 Aug: 16(2)180-1
Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia.
Human mutation , 2000 Jun: 15(6)585
HFE gene mutation, C282Y causing hereditary hemochromatosis in Caucasian is extremely rare in Korean population.
Journal of Korean medical science , 2000 Apr: 15(2)179-82
Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.
The Journal of pediatrics , 1999 Aug: 135(2 Pt 1)250-3
Cloning and characterization of the promoter region of the Wilson disease gene.
Biochemical and biophysical research communications , 1999 May 27: 259(1)206-11
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.
Human mutation , 1998: 11(4)275-8
A 5-nucleotide insertion in the antithrombin gene causing a quantitative antithrombin deficiency.
Thrombosis and haemostasis , 1997 Jan: 77(1)212-3
Linear and whorled nevoid hypermelanosis with delayed psychomotor development.
Yonsei medical journal , 1996 Aug: 37(4)290-4
Monoaminergic effects of folinic acid, L-DOPA, and 5-hydroxytryptophan in dihydropteridine reductase deficiency.
Journal of neurochemistry , 1995 Jun: 64(6)2810-3
Normal metallothionein synthesis in fibroblasts obtained from children with Indian childhood cirrhosis or copper-associated childhood cirrhosis.
Biochemical and molecular medicine , 1995 Apr: 54(2)142-5
Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
Human mutation , 1995: 6(1)66-73
Metallothionein synthesis and degradation in Indian childhood cirrhosis fibroblasts.
Pediatric research , 1994 Feb: 35(2)197-204
Copper effects on metal regulatory factors of cultured human fibroblasts.
Biochemical medicine and metabolic biology , 1993 Dec: 50(3)346-57

Presentations

Presentations TitleEventLocationDate
Tryptic Peptide Analysis of WBC to Diagnose Genetic disorders: Application to Primary Immunodeficiency Disorders and Nephropathic Cystinosis.American Society of Human GeneticsMontreal, CanadaOct. 15, 2011
Tryptic peptide analysis of Wilson disease by LC-MS/MS. International Conference on Metals and GeneticsKobe, JapanSept. 4, 2011 - Sept. 8, 2011
A Lesson from Next-Generation Sequencing for Targeted Mitochondrial Diseases: Redefining the Diagnostic SpectrumGenetic Grand Round, Providence Sacred Heart HospitalSpokane, WAAug. 17, 2011
Next-generation sequencing for clinical application to target mitochondrial disorders. Keynote speakerGarrod SymposiumCalgary, CanadaJune 10, 2011
Genetic Approach to Metabolic ConditionsAmerican Society of NeuroradiologySeattle, WAJune 7, 2011
Challenges in the Clinical Application of Next-Generation Sequencing for Mitochondrial Disorders. 2010 Illumina Regional Sequencing User Group MeetingSeattle, WAJuly 30, 2010
Diagnostic challenges in mitochondrial disordersKorea University Medical Center, Guro HospitalSeoul, KoreaMay 13, 2010
Diagnostic challenges in mitochondrial disordersSamsung Medical CenterSeoul, KoreaMay 12, 2010
The recent advance in the diagnosis of genetic disordersKorean Child Neurology SocietyIncheon, KoreaApril 14, 2010
Next Generation Sequence Analysis for Mitochondrial DisordersInternational Congress of Inborn Errors of MetabolismSan Diego, CAAug. 30, 2009
Molecular Genetic Testing for Wilson DiseaseWilson Disease Symposium, California Pacific Medical CenterSan Francisco, CAMay 2, 2009
Conundrum of Wilson DiseaseXVI World Congress of Psychiatric GeneticsOsaka, JapanOct. 12, 2008 - Oct. 15, 2008
Challenges in the diagnosis of metabolic diseasesMary Bridge Children's Hospital Pediatric Neuroscience ConferenceTacoma, WAApril 25, 2008
Challenges in the diagnosis of metabolic diseasesMadigan Hospital Developmental Pediatrics RoundTacoma, WAApril 15, 2008
Wilsons disease. The Northwest Pediatric Liver Disease SymposiumSeattle, WAApril 11, 2008 - April 12, 2008
Newborn screening for Wilson diseaseWilson Dsease Association Regional MeetingSeattle, WANov. 11, 2007
The expansion of Newborn Screening: Will there be a limit? Laboratory Medicine Grand Round, UWSeattle, WAMay 9, 2007
Population screening for Wilson disease in the U.S. International Workshop for Wilson DiseaseBethesda, MDNov. 2, 2006 - Nov. 3, 2006
Peroxisomal proliferation activator receptor (PPAR) agonists as a potential therapeutic use for patients with mitochondrial disordersResearch Forum, Mayo ClinicRochester, MNApril 21, 2006

Research Funding

Grant TitleGrantorAmountAward Date
Development of a cost-effective next-generation sequencing test for mitochondrial disorders and proficiency testing for quality controlMitochondrial Research Guild, USA 2011 - 2013
Peptide Fingerprint Analysis for Primary ImmunodeficiencyNational Institute of Health/National Inst of Allergy and Infectious Disease, U.S.A. 2010 - 2012
Quality Assessment of Mitochondrial Respiratory Chain Complex Enzyme Assays Using C. elegansACMG/Luminex Grant Award, U.S.A. 2009 - 2010
Next Generation Sequencing for Mitochondrial DisordersMitochondrial Guild Research, U.S.A. 2008 - 2010
Development and Validation of Clinical Tests for Mitochondrial DisordersMitochondrial Guild Research, U.S.A. 2007 - 2009
Analysis of ATP7B in screening for Wilson disease National Inst of Diabetes and Digestive and Kidney Disease, U.S.A 2004 - 2005

Primary Office

Seattle Children's
MB.8.625 - Biochemical Genetics
4800 Sand Point Way NE
Seattle, WA 98105
206-987-3012

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