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亲爱的同行朋友们，欢迎亲临2009年耳聋与基因医学国际研讨会！
对于我们所有人来说，这是与世界耳聋遗传学界同行交流与分享最新研究发现的好机会。毋庸置疑，在研讨会上知识的碰撞与交流必将促进耳聋基因医学的进一步发展。
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卢 宇 金占国 朱玉华
卢 宇 金占国 朱玉华
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访问统计
| 今日访问量: | 5 |
| 总访问量: | 5065 |
| 最大月访问量: | 1515 |
| 最大月访问量发生时间: | 2009-8 |
| 统计起始时间: | 2009-07-25 |
| Lee-Jun C. Wong教授 |
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Lee-Jun C. Wong教授现为美国德克萨斯州休斯顿市Baylor大学分子与人类遗传学实验室的主任及教授，主要负责线粒体疾病诊断实验室的相关工作。
Lee-Jun C. Wong教授于1975在俄亥俄州大学化学系获得博士学位，1976年，分别在美国费城Fox Chase肿瘤中心和普林斯顿大学完成博士后工作。
Lee-Jun C. Wong教授的主要研究兴趣是线粒体疾病遗传学和致病机制，线粒体DNA物质缺乏性综合征的致病机制, 癌症能量代谢的改变，肿瘤发生过程中的线粒体功能研究，以及在常见疾病，包括糖尿病，高血压，癌症，衰老过程中线粒体的遗传易感性研究。临床工作主要集中在人类遗传性疾病的分子诊断，线粒体疾病的诊断和新的分子诊断工具的研发工作。Lee-Jun C. Wong教授现为临床化学（Clinical Chemistry）、人类遗传学（Human Genetics）、线粒体（Mitochondrion）、临床遗传学（Clin Genetics）等13个国际知名杂志的编委之一；迄今为止，共发表SCI收录文章240余篇；被邀出席国际会议和专题讲座达60余次。
CURRICULUM VITAE
Name: Lee-Jun C. Wong
Address: 16611 Chestnut Meadow CT
Sugar Land, TX 77479
Place of Birth: Taipei, Taiwan
Citizenship: United States
E-mail:
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Board Certification
1996-present American Board of Medical Genetics: Clinical Biochemical Genetics
1996-present American Board of Medical Genetics: Clinical Molecular Genetics
1996-present Fellow, American College of Medical Genetics
1998-present Certified Laboratory Inspector, College of American Pathologists, Laboratory Accreditation Program
Education
1971 B.S., Biochemistry, Department of Agricultural Chemistry, National
Taiwan University, Taipei, Taiwan
1975 Ph.D., Biochemistry (Advisor: Dr. Perry A. Frey, National Academy of Science, Member), Department of Chemistry, The Ohio State University, Columbus, OH Project: Catalytic mechanism of Gal1P Uridylyltransferase. The key enzyme responsible for galactosemia.
1975 - 1976 Postdoctoral Fellow (with Dr. Irwin Rose, Nobel Laureate 2004 for his work on the chemistry of protein ubiquitination, member of National Academy of Science), Institute for Cancer Research, Philadelphia, PA
Project: Kinetic competence of phosphoryl enzyme intermediate in the Glucose1,6P2 synthetase catalyzed reaction.
1976 Research Associate (with Dr. Bruce Alberts, President of National Academy of Science 1993-2005), Department of Biochemical Sciences, Princeton University, Princeton, N J
Project: Biochemical characterization of histone acetyltransferase.
1976 -1978 Research Associate (with Dr. George Marzluf), Department of Biochemistry, The Ohio State University, Columbus, OH
1992 -1994 American Board of Medical Genetics Trainee, Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX
Professional Experience
1978 - 1980 Adjunct Faculty, Department of Chemistry, University of Massachusetts, Lowell, MA
1980 - 1984 Assistant Professor, Department of Biological Sciences, University of Massachusetts, Lowell, MA
1984 - 1992 Tenured Associate Professor, Department of Biological Sciences, University of Massachusetts, Lowell, MA
1992 -1994 Molecular and Biochemical Genetics Fellow, Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX
1994-1995 Assistant Professor, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
1995-1997 Associate Professor and Director of Molecular Diagnostic Laboratory, Department of Pathology and Pediatrics, University of Southern California, School of Medicine, Los Angeles, California
1997-2005 Associate to Full Professor and Director of Molecular Genetics Laboratory, Institute for Molecular and Human Genetics, Departments of Oncology, Pediatrics, and Medicine, Georgetown University Medical Center, Washington DC
1999 -2005 Genetics Core Laboratory Director, General Clinical Research Center, GUMC
2005-present Professor and Director of Mitochondrial Diagnostics Laboratory, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas
Honors and Awards
1967-1971 Distinguished Academic Achievement Award, National Taiwan University
1971 Professor Y.S. Wei Award, National Taiwan University
1972-1973 William Lloyd Evans Graduate Research Award
1980-1981 Elloise Gerry Fellowship, Graduate Women in Science Award
1992-1994 Michael Higgins Fellowship, Institute for Molecular Genetics, Baylor College of Medicine
Serve as Reviewer for the Following Journals
Breast Cancer Research and Treatment
American Journal of Medical Genetics
Clinical Chemistry
Human Genetics
J Medical Genetics
J Pediatrics
Mitochondrion
Molecular Cancer Research
Am J Human Genetics
Molecular Genetics and Metabolism
Clin Genetics
Cancer Research
Muscle & Nerve
Peer Reviewed Papers (recent five years):
1. Gropman A, Chen TJ, Perng C-L, Krasnewich D, Chernoff E, Tifft C, Wong L-JC.(2004) Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation. Am J Med Genet 124A:377-382.
2. Baidas S, Chen TJ, Kolev V, Wong LJC, Imholte J, Qin N, Meck J. (2004) Cytogenetic and molecular evidence of constitutional mosaic trisomy 8 and hematologic abnormalities in a phenotypically normal woman. Am J Med Genet 124A:383-387.
3. Lee-Jun C. Wong, Duan-Jun Tan, Ren-Kui Bai, Kun-Tu Yeh, Julia Chang. (2004) Molecular alterations in mitochondrial DNA of hepatocellular carcinomas: Is there a correlation with clinicopathological profile? J Med Genet;41: 65.
4. Szigeti K, Wong LJC, Perng CL, Saifi GM, Eldin K, Adesina AM, Cass DL, Hirano M, Lupski JR, Scaglia F. (2004) MNGIE with lack of skeletal muscle involvement and a novel TP splice-site mutation. J Med Genet 41:125-129.
5. Williams SM, Ritchie MD, Phillips JAIII, Dawson E, Prince M, Dzhura E, Willis A, Semenya A, Summar M, White BC, Addy JH, Kpodonu J, Wong LJ, Felder RA, Jose PA, Moore JH. (2004) Multilocus analysis of hypertension: A hierarchical approach. Hum Hered 57:28-38.
6. Wong LJC, Wladyka C, Mardach-Verdon R. (2004) A mitochondrial DNA mutation in a patient with an extensive family history of Duchenne Muscular Dystrophy. Muscle & Nerve 30:118-122.
7. Johnston JJ, Lichter-Konecki U, Wilson E, Cobb BR, Evans BM, Schnur RE, Wong LJC. (2004) Discordant PKU phenotype in one family due to disparate genotypes and a novel mutation. J Inh Metab Dis 27:157-163.
8. Wong LJC. (2004) Comprehensive molecular diagnosis of mitochondrial disorders: Qualitative and quantitative approach. Ann NY Acad Sci 1011:246-258.
9. Bai RK, Perng CL, Hsu CH, Wong LJC. (2004) Quantitative PCR analysis of mitochondrial DNA content in patients with mitochondrial disease. Ann NY Acad Sci 1011:304-309.
10. Tan DJ, Chang J, Chen WL, Agress LJ, Yeh KT, Wang BT, Wong LJC. (2004) Somatic mitochondrial DNA mutations in oral cancer of betel quid chewers. Ann NY Acad Sci mitochondrial pathogenesis 1011:310-316.
11. Kwon HY, Tan DJ, Bai RK, Wong LJC. (2004) Enhanced detection of deleterious mutations by TTGE analysis of mother and child’s DNA side by side. Ann NY Acad Sci mitochondrial pathogenesis 1011:299-303.
12. Wong S, Wong LJC. (2004) Biochemical markers for the diagnosis of acute coronary syndromes. The Changhua Journal of Medicine 9:57-66.
13. Wong LJC. (2004) Molecular genetics of mitochondrial DNA disorders. The Zhanghua Journal of Medicine 9:125-137.
14. Wong LJC, Chen TJ, Tan DJ. (2004) Detection of mitochondrial DNA mutations using Temporal temperature gradient gel electrophoresis (TTGE).Electrophoresis 25:2602-2610.
15. Wong LJC, Alper OM. (2004) Detection of CFTR mutations using Temporal temperature gradient gel electrophoresis (TTGE). Electrophoresis 25:2593-2601.
16. Shanske S, Wong LJC. (2004) Molecular analysis for mitochondrial DNA disorders. Mitochondrion 4:403-415.
17. Bai RK, Wong LJC. (2004) Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time quantitative PCR analysis: a single step rapid, sensitive, and accurate approach. Clin Chem 50:996-1001.
18. Andreas Kurtz, Maria Lueth, Lan Kluwe, Tingguo Zhang, Rosemary Foster, Victor-Felix Mautner, Melanie Hartmann, Duan-Jun Tan, Robert L Martuza, Reinhard E Friedrich, Pablo Hernaiz Driever, Lee-Jun C. Wong. (2004) Somatic mitochondrial DNA mutations in Neurofibromatosis type 1-associated tumors. Mol Cancer Res 2:433-441.
19. Scaglia F, Vogel H, Hawkins EP, Vladutiu GD, Guan MX, Liu LL, Wong LJC. (2004) In reply to: proving pathogenicity-when evolution is not enough. Am J Med Genet 14.
20. Alper O, Wong LJ. Young S, Pearl M, Graham S, Sherwin J, Kharrazi M. (2004) Identification of novel and rare CFTR mutations in California Hispanic Hispanic and African American cystic fibrosis patients. Hum Mut 24:353.
21. Scaglia F, Towbin JA,Craigen WJ,Belmont JW, Smith EO, Neish SR, Ware SM, Bowles KR, Hunter J,Fernbach SD, Vladutiu G, Wong L-JC, Vogel H. (2004) Clinical Spectrum, Morbidity, and Mortality in 113 Patients with Mitochondrial Disease. Pediatrics 114:925-931.
22. Wong LJC, Alper OM, Hsu E, Woo MS, Margetis MF. (2004) The necessity of complete CFTR mutational analysis of an infertile couple before in vitro fertilization. Fertility & Sterility 82:947-949.
23. Wong LJC, Lin Y-H, Suwannarat P, Hsu C-H, Kwon HY, Mackowiak S. (2005) Mitochondrial DNA mutations in a patient with sex reversal and clinical features consistent with Fraser syndrome. Clin Genetics 67:252-257.
24. Wong LJC, Alper O, Kwon HY, Tan DJ, Chen TJ. (2005) Temporal temperature gradient gel electrophoresis: a mutation detection method. Encyclopedia of Diagnostic Genomics and Proteomics. Fuchs J, Podda M, eds. Marcel Dekker, Inc. 1257-1261.
25. Wong LJC, Boles R. (2005) Mitochondrial DNA in clinical laboratory diagnostics. Invited Review Article, Clinica Chimica Acta 354:1-20.
26. ScagliaF, Wong LJC, Vladutiu GD, Hunter JV. (2005) Predominant cerebellar volume loss as a neuroradiological feature of pediatric respiratory chain defects. American Journal of Neuroradiology 26:1675-1680.
27. Wong LJC. (2005) Molecular Genetics of common mitochondrial DNA disorders. J Peking Univ [Health Sci], Beijing Da Xue Xue Bao 37: 26-31.
28. McComsey G, Bai RK, Maa JF, Seekins D, Wong LJ. (2005) Extensive investigation of mitochondrial DNA genome in treated HIV-infected subjects: beyond mtDNA depletion. JAIDS 39:181-188.
29. Wu CC, Alper OM, Lu JF, Wang SP, Guo L, Chiang HS, Wong LJ. (2005) Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens. Hum Reprod 20:2470-2475.
30. Hsu CH, Kwon H, Perng CL, Bai RK, Dai P, Wong LJ. (2005) Hearing loss in mitochondrial disorders. Ann N Y Acad Sci 1042:36-47.
31. Bai R, Wong LJC. (2005) Simultaneous detection and quantification of mitochondrial DNA deletion, depletion, and amplification in patients with mitochondrial disease. J Mol Diagnosis 7:613-622.
32. Lohmueller KE, Wong LJC, Mauney MM, Jiang L, Felder RA, Jose PA, Williams SM. (2006) Patterns of genetic variation in the hypertension candidate gene GRK4: ethnic variation and haplotype structure. Annals Hum Genet 70:27-41.
33. Wong LJC, Cobb BR, Chen TJ. (2006) Molecular analysis of mitochondrial DNA point mutations by PCR. In Clinical Application of PCR, second Edition, Edited by YMD Lo, RWK Chiu, and KCA Chan, series Methods in Molecular Biology,; 336:135-43 Humana Press Inc., Totowa, NJ.
34. Wong LJC, Bai RK. (2006) Real Time quantitative PCR analysis of mitochondrial DNA point mutations. Invited chapter In “Fluorescent Energy Transfer Nucleic Acid Probes: Designs and Protocols. In the series, Methods in Molecular Biology, 335, 187-200 Humana Press Inc. Totowa, NJ.
35. Enns GM, Bai RK, Beck AE, Wong LJ. (2006) Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load. Mol Genet Metab 88:364-371.
36. Tan DJ, Chang J, Liu LL, Bai RK, Wang YF, Yeh KT, Wong LJC. (2006) Somatic mtDNA alterations in esophageal cancer. BMC Cancer 6:93.
37. Wong LJC, Yim D, Bai RK, Kwon HY, Vacek MM, Zane J, Hoppel CL, Kerr D. (2006) A novel mutation in the mitochondrial tRNAser(AGY) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency. J Mol Genet 43:46.
38. Wong LJC, Dai P, Lu JF, Lou MA, Clarke R, Nazarov V. (2006) AIB1 gene amplification and the instability of poly Q encoding sequences in breast cancer cell lines. BMC Cancer 6:111.
39. Gambello MJ, Bai RK, Chen TJ, Dimachkie M, Wong LJC. (2006) Exercise intolerance associated with a novel 8300T>C mutation in mitochondrial tRNALys. Muscle & Nerve 34:437-443.
40. Feigenbaum A, Bai RK, Doherty E, Kwon H, Tan DJ, Sloane A, Cutz E, Robinson BH, Wong LJC. (2006) Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness. Am J Med Genet 140:2216-22.
42. Wong LJC, Lee MH, Ming Chen, Alper OM, Tsao L-Y, Wang BT.(2007) The first prenatal diagnostic analysis of CFTR gene in East Asian. Pediatrics International 49:686-7.
43. Dimmock D, Kobayashi K, Lijima M, Tabata A, Wong LJC, Saheki T, Lee B, Scaglia F. (2007) Citrin Deficiency: A novel cause of failure to thrive that responds to a high-protein, low –carbohydrate diet. Pediatrics 119: 773-777.
44. Wong LJ. (2007) Diagnostic challenges of mitochondrial DNA disorders. Mitochondrion 7:45-52.
45. Wong LJC. (2007) Pathogenic mitochondrial DNA mutations in protein coding genes. Invited Review Article. Muscle & Nerve 36:279-93.
46. Dai P, Yu F, Han B, Yuan Y, Li Q, Wang G, Huang D, Kang D, Zhang X, Yuan H, Schmitt ES, Han D, Wong LJC. (2007) The prevalence of 235delC GJB2 mutation in Chinese deaf population. Genet in Med 9:283-289.
47. Bai RK, Leal SM, Covarrubias D, Liu A, Wong LJC. (2007) Mitochondrial genetic background modifies breast cancer risk. Cancer Research 67: 4687-94.
48. Bao X, Wu Y, Wong LJC, Zhang Y, Xiong H, Chou PC, Truong CK, Jiang Y, Qin J, Yuan Y, Lin Q, Wu X. (2007) Alpers syndrome with prominent white matter changes. Brain & Development.
49. Wong LJC, Brunetti-Pierri N, Zhang Q, et al. (2007) Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. Hepatology46:1218-1227.
50. Scaglia F, Wong LJC. (2008) Human mitochondrial tRNAs: role of pathogenic mutations in disease. Invited Review Article, Muscle & Nerve 37:150-171.
51. Dimmock DP, Dionisi-Vici C, Shieh J, Zhang Q, Truong C, Schmitt E, Sifry-Platt M, Carrozzo R, Lucioli S, Ficicioglu CH, Wierenga K, Enns GM, Arch EM, Longo N, Lipson MH, Vallance H, Scaglia F, Wong LJC. (2008) Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Human Mutation 29:330-331.
52. Bai RK, Leal SM, Covarrubias D, Liu A, Wong LJC. (2008) Letter to the Editor, Cancer Research 28:624.
53. The Mitochondrial Medicine Society’s committee on Diagnosis. Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Wong LJ, Cohen BH, Naviaux RK. (2008) The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab 94:16-37.
54. Dimmock DP, Dunn JK, Feigenbaum A, Rupar A, Horvath R, Freisinger P, Mousson de Camaret, Wong LJ, Scaglia F. (2008) Abnormal neurological exam predicts poor survival and should precluded liver transplantation in deoxyguanosine kinase deficiency. Liver Transplantation 14:1480-1485.
55. Brunetti-Pierri N, Selby K, O’Sullivan M, Hendson G, Truong C, Waters P, Wong LJC. (2008) Rapidly progressive neurological deterioration in Alpers syndrome in a child with previously normal brain MRI. Neuropediatrics 39:179-183.
56. Schrijver I, Rappahahn K, Pique L, Kharrazi M, Wong LJC. (2008) MLPA identificationof whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis. J Mol Diagnosis 10:368-75.
57. Wong LJC, Dimmock D, Geraghty MT, Quan R, Lichter-Konecki U, Wang J, Brundage EK, Scaglia F, Chinault AC. (2008) Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions. Clin Chem 54:1141-8.
58. Wong LJC, et al. (2008) Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mut 29: 150-172.
59. Brautbar A, Wang J, Abdenur JE, Chang RC, Thomas JA, Grebe TA, Lim C, Weng S-W, Graham BH, Wong LJ. (2008) The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle. Molecular Genetics and Metabolism 94:485-90.
60. Milone M, Brunetti-Pierri N, Tang LY, Kumar N, Mezei MM, Josephs K, Powell S, Simpson E, Wong LJ. (2008) Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. Neuromuscul Disord 18:626-32.
61. Covarrubias D, Bai RK, Wong LJC, Leal SM. (2008) Mitochondrial DNA variant interactions modify breast cancer risk. J Hum Genet 53:924-928.
62. P Dai, Y Yuan, D Huang, X Zhu, F Yu, D Kang, H Yuan, B Wu, D Han, LJC Wong. (2008) Molecular Etiology of Hearing Impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis. Journal of Translational Medicine 6:74.
63. Lee NC, Dimmock DP, Hwu WL, Tang LY, Huang WC, Chinault AC, Wong LJC. (2009) Simultaneous detection of mitochondrial DNA depletion and single exon deletion in DGUOK using array CGH. Arch Dis Child 94:55-8.
64. Shchelochkov OA, Wong LJ, Shabani A, Shinawi M. (2009) Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation. Muscle & Nerve 39:374-382.
65. Dimmock D, Maranda B, Dionisi-Vici C, Wang J, Kleppe S, Fiermonte G, Bai R, Hainline B, Hamosh A, O'Brien WE, Scaglia F, Wong LJ.(2009) Citrin deficiency, a perplexing global disorder. Mol Genet Metab 96:44-49.
66. Dhar SU, Scaglia F, Li FY, Smith L, Barshop BA, Eng CM, Haas RH, Hunter JV, Lotze T, Maranda B, Willis M, Abdenur JE, Chen E, O'Brien W, Wong LJ. (2009) Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency. Mol Genet Metab 96:38-43.
67. Wang J, Brautbar A, Chan AK, Dzwiniel T, Li FY, Waters PJ, Graham BH, Wong LJ. (2009) Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family. Mol Genet Metab 96:59-65.
68. Ware SM, Grange DK, Zhang Q, Ma YW, Miller E, Wong B, Spicer RL, Craigen WJ, Kozel E, Kahler SG, Wong LJ. (2009) Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase6 and 8 genes. J Mol Genet 46:308-14.
70. Lutz RE, Dimmock D, Schmitt ES, Zhang Q, Tang LY, Reyes C, Truemper E, McComb RD, Hernandez A, Basinger A, Wong LJC. (2009) De Novo mutations in POLG presenting with acute liver failure or encephalopathy. J Ped Gastroenterology and Nutrition.
71. Van Hove JLK, Rice C, Cunningham V, Ringel S, Zhang Q, Chou PC, Truong CK, Wong LJC. (2009) Finding Twinkle in the eyes of a 71-year-old lady. Am J Med Genet 149A:861-7.
72. Yoon MK, Roorda A, Zhang Y, Nakanishi C, Wong LJ, Zhang Q, Gillum L, Green A, Duncan JL. (2009) Adaptive optics scanning laser opththalmoscopy images demonstrate abnormal cone structure in a family with the mitochondrial DNA T8993C mutation. Invest Ophthalmol Vis Sci.
73. Mobley BC, Enns GM, Wong LJ, Vogel H. (2009) A novel homozygous SCO2 mutation, G193S, causing fatal infantile cardioencephalomyopathy. Clinical Neuropathology 28:143-149
74. Milone M, Younge BR, Wang J, Zhang S, Wong LJ. (2009) Mitochondrial disorder with OPA1 mutation lacking optic atrophy. Mitochondrion 9:279-81.
75. Dai P, Yu F, Han B, Wang G, Li Q, Yuan Y, Liu X, Huang D, Kang D, Zhang X, Yuan H, Yao K, Hao J, etc. Wong LJC. (2009) GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment. J Transl Med 7:26.
76. Shaibani A, Shchelochkov OA, Zhang S, Katsonis P, Lichtarge O, Wong LJ, Shinawi M. (2009) Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurology (in press).
77. Chinault AC, Shaw CA, Brundage EK, Tang LY, Wong LJ. (2009) Application of dual genome oligonucleotide aCGH to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes. Genetics in Medicine (accepted).
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