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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！
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Cynthia Casson Morton教授

        Cynthia Casson Morton教授现任美国哈佛医学院妇产科和生殖生理学教授，病理学教授，遗传学和基因组学哈佛合作中心副主任，生物医学研究所主任，波士顿布莱格姆暨妇产医院（Brigham and Women's Hospital）细胞遗传学主任。
        Cynthia Casson Morton博士曾是美国医学遗传学会主任委员会成员，是其评估委员会的秘书、财务总管和主席，也曾是美国病理学会和医学遗传学会的分子遗传病理政策和考核委员会的主席，是美国国立耳聋与其他交流障碍性疾病研究所的科学顾问委员会成员和主席。目前，Morton博士也是耳聋研究基金会科学理事顾问团成员，国立医学院医学图书馆的评议委员会主席；美国人类遗传学协会董事会成员，也是著名美国人类遗传学杂志（the American Journal of Human Genetics）的编委之一。
         Cynthia Casson Morton教授于1977年在美国维吉尼亚州威廉玛丽学院获得科学学士学位，1982年在维吉尼亚医学院获得人类遗传学博士学位。之后，Morton教授分别在哈佛医学院儿童医院和遗传学院进行博士后工作。其医学遗传学，临床细胞遗传学和临床分子遗传学的博士学位均得到了美国医学遗传学会的认证。
        Cynthia Casson Morton教授的研究领域主要集中在遗传性耳聋、子宫平滑肌瘤遗传学和人类各种发育疾病的分子细胞遗传学等方面。作为波士顿布莱格姆暨妇产医院细胞遗传学主任，Morton博士管理着可以提供全面服务的美国最大的细胞遗传学实验室之一。迄今为止，该实验室在对各个生命时期的染色体进行分子诊断性检测的研究领域均位列国际前沿，包括胚胎植入前诊断和产前诊断，先天性和发育疾病的围产期和儿童期评估，不孕和流产研究，白血病、淋巴瘤和实体瘤的细胞遗传学等。她的实验室已经成为一个培训临床细胞遗传学实验室专家的主要基地。作为细胞遗传学领域中的领军人物，Cynthia Casson Morton教授为人类遗传学研究做出了卓越的贡献。迄今为止，Cynthia Casson Morton教授共发表SCI收录文章240余篇，其中包括Science、Nature、Nature Genetics及Lancet等国际顶级杂志16余篇。
 
CURRICULUM  VITAE
 
 
Name:                 Cynthia Casson Morton
Address:        
               New Research Building, Room 160D
                            Harvard Medical School
                            77 Avenue Louis Pasteur
                            Boston, MA 02115
Place of Birth:   Atlanta, Georgia
Citizenship:       United States
E-mail: This e-mail address is being protected from spambots. You need JavaScript enabled to view it
 
Education
 
 1973-1977           B.S. in Biology, The College of William and Mary in Virginia
Williamsburg, VA
 1977-1982           Ph.D. in Human Genetics, Medical College of Virginia
Richmond, VA Laboratory of Judith A. Brown, Ph.D.
 1982-1983           Research Fellow in Pediatrics, Division of Clinical Genetics
                         Children's Hospital, Harvard Medical School, Boston, MA
                         Laboratory of David M. Kurnit, M.D., Ph.D.
 1983-1987           Research Fellow in Genetics, Department of Genetics
                         Harvard Medical School, Boston, MA
                         Laboratory of Philip Leder, M.D.
 
Academic Appointments
 
1996-                            William Lambert Richardson Professor of Obstetrics, Gynecology and
                                    Reproductive Biology   
Professor of Pathology
                                    Harvard Medical School, Boston, MA
 
2003-                            Member of the Affiliated Faculty of the Harvard-MIT Division of Health Sciences and Technology
 
Administrative Responsibilities and Hospital Affiliations
 
2001              Associate Director, Harvard-Partners Center for Genetics and Genomics
2005-08 Co-Director, Brigham and Women’s Hospital Biomedical Research Institute
2008-10 Director, Brigham and Women’s Hospital Biomedical Research Institute
 
Honors and Awards:
 
2001              VCU Life Sciences Advisory Board, Virginia Commonwealth University, Richmond
2001              Council of Scientific Trustees, Deafness Research Foundation
2002-      Advisory Committee, University of Nebraska Neurosensory CoBRE
2003              Mary Horrigan Conners Award, Brigham and Women’s Hospital
2004              MacArthur Research Service Award, Brigham and Women’s Hospital Research Council
2008    Advisory Board, The Raphael Recanati Genetic Institute, Rabin Medical Center, Petach
Tikva, Israel
 
Editorial Boards:
 
1999-01 American Journal of Human Genetics
2001              Human Genetics
2006-10 Editor, American Journal of Human Genetics
2007-      International Journal of Clinical and Experimental Pathology
2008              The Application of Clinical Genetics
2008              Audiology and Neurotology
2008              International Journal of Women’s Health
2008              Cancer Management and Research
 
Major Research Interests:
 
Biology of uterine leiomyomata
Biology of hearing and deafness
Gene mapping
Clinical and molecular cytogenetics
 
Research Funding Information:
1987-91    NIH/R01 PI Characterization of the myc Multigene Family
 1990-13    NIH/R01 PI Cloning Genes Involved in Hearing
1992-06      NIH/R01 PI Molecular and Cytogenetic Studies of Uterine Leiomyomata
2001-14    NIH/P01 PI DGAP: Developmental Genome Anatomy Project
2003-08    NIH/R01 PI Finding Genes for Fibroids
1999-2012      NIH/T32 PI: Training Grant in Genetics
 
Principal Clinical and Hospital Service Responsibilities:
 
 1987-    Director of Cytogenetics, Brigham and Women's Hospital
 1996-    Director of Cytogenetics, Partners HealthCare System
 
Major Administrative Responsibilities:
 
1987-              Director of Cytogenetics, Brigham and Women's Hospital
1999-       Program Director, Women’s Reproductive Health Research Career Development Center, Brigham and Women’s Hospital
2002-04   Program Director, Harvard Medical School American Board of Medical Genetics Training Program
2003-     Prinicipal Investigator, Genetics Training Grant at Harvard Medical School
2006-08       Co-Director, BWH Biomedical Research Institute
2008-10    Director, BWH Biomedical Research Institute
 
Papers Published (Recent Five Year)
1.               Dettori T, Frau DV, Garcia JL, Pierantoni G, Lee C, Hernandez JM, Fusco A, Morton CC, Vanni R. (2004) Comprehensive conventional and molecular cytogenetic characterization of B-CPAP, a human papillary thyroid carcinoma-derived cell line.  Cancer Genet. Cytogenet 151:171-177.
2.               Resendes BL, Kuo SF, Robertson NG, Giersch ABS, Honrubia D, Ohara O, Adams JC, Morton CC. (2004) Isolation from cochlea of a novel human intronless gene with predominant fetal expression. J. Assoc. Res. Otolaryngol. 5:185-202.
3.               Cowan CA, Klimanskaya I, McMahon, Atienza J, Witmyer J, Zucker JP, Wang S, Morton CC, McMahon AP, Powers D, Melton DA. (2004) Derivation of embryonic stem cell lines from human blastocysts. N. Engl. J. Med. 350:1353-1356.
4.               Quade BJ, Tao-Yeuan Wang T-Y, Sornberger K, Dal Cin P, Mutter GL, Morton CC. (2004) Molecular pathogenesis of uterine smooth muscle tumors from transcriptional profiling. Genes Chromosomes Cancer 40:97-108.
5.               Roberts AE, Irons MB, Kimonis VE, Mulliken JB, Morton CC, Lee C, Listewnik M. (2004) Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay. Am. J. Med. Genet. 130:204-207.
6.               Iannaccone A, Wang X, Jablonski MM, Kuo SF, Baldi A, Cosgrove D, Morton CC, Swaroop A. (2004) Increasing evidence for syndromic phenotypes associated with RPGR mutations. Am. J. Ophthalmol. 137:785-786.
7.               Gross KL, Panhuysen CIM, Kleinman MS, Goldhammer H, Jones ES, Nassery N, Stewart EA, Morton CC. (2004) Involvement of fumarate hydratase in nonsyndromic uterine leiomyomata: Genetic linkage analysis and FISH studies. Genes Chromosomes Cancer 41:183-190.
8.               Veugelers M, Bressan M, McDermott DA, Weremowicz S, Morton CC, Mabry CC, Lefaivre J-F, Zunamon A, Destree A, Chaudron J-M, Basson CT. (2004) Mutation of perinatal myosin heavy chain associated with a Carney complex variant. N. Engl. J. Med. 351:460-469.
9.               Moore SDP, Herrick SR, Ince TA, Kleinman MS, Dal Cin P, Morton CC, Quade BJ. (2004) Uterine leiomyomata with t(10;17) disrupt the histone acetyltransferase MORF. Cancer Res 64:5570-5577.
10.           Hida K, Hida Y, Amin DN, Flint AF, Panigrahy D, Morton CC, Klagsbrun M. (2004) Tumor-associated endothelial cells with cytogenetic abnormalities. Cancer Res 64:8249-8255.
11.           Bhattacharya SK, Rockwood EJ, Smith S, Bonilha V, Crabb JS, Peachey N, Kuchtey R, Robertson NG, Morton CC, Crabb JW.(2005) Proteomics reveals cochlin deposits in glaucomatous trabecular meshwork. J. Biol. Chem 280:6080-6084.
12.           Ligon AH, Moore SDP, Parisi MA, Mealiffe ME, Harris DJ, Ferguson HL, Quade BJ, Morton CC. (2005) Constitutional rearrangement of the architectural factor HMGA2: A novel human phenotype including overgrowth and lipomas. Am. J. Hum. Genet. 76:340-348.
13.           Kim H-G, Herrick SR, Lemyre E, Kishikawa S, Salisz JA, Seminara S, MacDonald ME, Bruns GAP, Morton CC, Quade BJ, Gusella JF. (2005) Hypogonadotropic hypogonadism and cleft lip and palate due to a balanced translocation producing haploinsufficiency for FGFR1. J. Med. Genet. 42:666-672.
14.           Makishima T, Rodriguez CI, Robertson NG, Morton CC, Stewart CL, Griffith AJ. (2005) Targeted disruption of mouse Coch provides functional evidence that DFNA9 hearing loss is not a COCH haploinsufficiency disorder. Hum. Genet. 118:29-34.
15.           Street VA, Kallman, JC, Robertson NG, Kuo SF, Morton CC, Phillips JO. (2005) A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction. Am. J. Med. Genet. 139:86-95.
16.           Morton CC, Nance WE. (2006) Newborn hearing screening: A silent revolution. N. Engl. J. Med. 354:2151-2164.
17.           Moore SDP, Offor O, Ferry JA, Amrein PC, Morton CC, Dal Cin P. (2006) ELF4 is fused to ERG in a case of acute myeloid leukemia with a t(X;21)(q25-26;q22). Leuk. Res. 30:1037-1042.
18.           Christacos NC, Quade BJ, Dal Cin P, Morton CC. (2006) Uterine leiomyomata with deletions of 1p represent a distinct cytogenetic subgroup associated with unusual histologic features. Genes Chromosomes Cancer 45:304-312.
19.           Kemperman MH, De Leenheer EMR, Huygen PLM, van Duijnhoven G, Morton CC, Robertson NG, Cremers FPM, Kremer H, Cremers CWRJ. (2005) Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation. Otol. Neurotol. 26:926-933.
21.           Stewart EA, Morton CC. (2006)The genetics of uterine leiomyomas: What clinicians need to know. Obstet. Gynecol. 107:917-921.
22.           Robertson NG, Cremers CWRJ, Huygen PLM, Ikezono T, Krastins B, Kremer H, Kuo SF, Liberman MC, Merchant SN, Miller CE, Nadol, Jr. JB, Sarracino DA, Verhagen WI, Morton CC. (2006) Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction. Hum. Mol. Genet. 15:1071-1085.
23.           Wilkins-Haug L, Quade B, Morton CC. (2006) Confined placental mosaicism as a risk factor among newborns with fetal growth restriction. Prenat. Diagn. 26:428-432.
24.           Weremowicz S, Sandstrom DJ, Morton CC, Miron PM. (2006) Validation of DNA probes for preimplantation genetic diagnosis (PGD) by fluorescence in situ hybridization (FISH). Prenat. Diagn. 26:1042-1050.
25.           Sivakumaran TA, Resendes BL, Robertson NG, Giersch ABS, Morton CC. (2006) Characterization of an abundant COL9A1 transcript in the cochlea with a novel 3’ UTR: expression studies and detection of miRNA target sequence. J. Assoc. Res. Otolaryngol. 7:160-172.
26.           Baek M-J, Park H-M, Johnson JM, Altuntas CZ, Jaini R, Thomas DM, Ball EJ, Robertson NG, Morton CC, Hughes GB, Tuohy VK. (2006) Increased frequencies of cochlin specific T cells in patients with autoimmune sensorineural hearing loss. J. Immunol. 177:4203-4210.
27.           Alkuraya FS, Saadi I, Lund JJ, Turbe-Doan A, Morton CC, Maas RL. (2006) SUMO1 haploinsufficiency leads to cleft lip and palate. Science. 313:1751.
28.           Kim H-G, Higgins AW, Herrick SR, Kishikawa S, Nicholson L, Kutsche K, Ligon AH, Harris DJ, MacDonald ME, Bruns GAP, Morton CC, Quade BJ, Gusella JF. (2007) Candidate loci for Zimmermann-Laband syndrome at 3p14.3. Am. J. Med. Genet. A 143A:107-111.
29.           Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim H-G, Fan Y, Xi Q, Li Q, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TPVM, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL. (2007) Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am. J. Hum. Genet. 80:616-632.
30.           Leach NT, Sun Y, Michaud S, Zheng Y, Ligon KL, Ligon AH, Sander T, Korf BR, Lu W, Harris DJ, Gusella JF, Maas RL, Quade BJ, Cole AJ, Kelz MB, Morton CC. (2007) Disruption of diacylglycerol kinase delta(DGKD)associated with seizures in humans and mice. Am. J. Hum. Genet. 80:792-799.
31.           Williamson RE, Darrow KN, Michaud S, Jacobs JS, Jones MC, Eberl DF, Maas RL, Liberman MC, Morton CC. (2007) Methylthioadenosine phosphorylase (MTAP) in hearing: Gene disruption by chromosomal rearrangement in a hearing impaired individual and model organism analysis. Am. J. Med. Genet. A 143A:1630-1639.
32.           Hodge JC, Morton CC. (2007) Genetic heterogeneity among uterine leiomyomata: Insights into malignant progression. Hum. Mol. Genet. 16:R7-R13.
33.           Quintero-Rivera F, Leach NT, de la Chapelle A, Gusella JF, Morton CC, Harris DJ. (2007) Is the disruption of an N-myristoyltransferase (NMT2) associated with hypoplastic testes? Am. J. Med. Genet. A 143:1796-1798.
34.           Lu W, Quintero-Rivera F, Fan Y, Alkuraya F, Donovan DJ, Xi Q, Turbe-Doan A, Li Q-G, Campbell CG, Shanske AL, Sherr EH, Ahmad A, Peters R, Rilliet B, Parvex P, Bassuk AG, Harris DJ, Ferguson H, Kelly C, Walsh CA, Gronostajski RM, Devriendt K, Higgins A, Ligon AH, Quade BJ, Morton CC, Gusella JF, Maas RL. (2007) NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet. 3:830-843.
35.           Gabashvili IS, Sokolowski B, Morton CC, Giersch ABS. (2007) Ion channel gene expression in the inner ear. J. Assoc. Res. Otolaryngol. 8:305-328.
36.           Chanock S, Manolio T, Boehnke M, Boerwinkle E, Hunter D, Thomas G, Abecasis G, Altshuler D, Bailey-Wilson JE, Brooks LD, Cardon LR, Daly M, Donnelly P, Fraumeni , Jr. JF, Freimer NB, Gerhard DS, Gunter C, Guttmacher AE, Guyer MS, Harris EL, Hirschhorn J, Hoh J, Hoover R, Kong CA, Merikangas KR, Morton CC, Palmer LJ, Phimister EG, Rice JP, Roberts J, Rotimi C, Tucker MA, Vogan K, Wacholder S, Wijsman EM, Winn DM, Collins FS. (2007) What constitutes replication of a genotype-phenotype association? Summary of an NCI-NHGRI Working Group. Nature 447:655-660.
37.           Picciani R, Desai K, Guduric-Fuchs J, Cogliati T, Morton CC, Bhattacharya SK (2007) Cochlin in the eye: functional implications. Prog. Retin. Eye Res. 26:453-469.
38.           Huyck KL, Panhuysen CIM, T.Cuenco K, Zhang J, Goldhammer H, Jones ES, Somasundaram P, Lynch AM, Harlow BL, Lee H, Stewart EA, Morton CC. (2008) The impact of race as a risk factor for symptom severity and age at diagnosis of uterine leiomyomata among affected sisters. Amer. J. Obstet. Gynecol. 168:1-9.
39.           Kim H-G, Kishikawa S, Higgins AW, Seong I-S, Donovan DJ, Shen Y, Lally E, Weiss LA, Najm J, Kutsche K, Descartes M, Holt L, Braddock S, Troxell R, Kaplan L, Volkmar F, Klin A, Tsatsanis K, Harris DJ, Noens I, Pauls DL, Daly MJ, MacDonald ME, Morton CC, Quade BJ, Gusella JF. (2008) Disruption of neurexin 1 associated with autism spectrum disorder. Am. J. Hum. Genet. 82:199-207.
40.           Williamson RE, Darrow KN, Giersch ABS, Resendes BL, Liberman MC, Tasheva ES, Morton CC. (2008) Expression studies of osteoglycin/mimecan (OGN) in the cochlea and auditory phenotype of Ogn-deficient mice. Hear. Res. 237:57-65.
41.           Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GAP, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim H-G, Kishikawa S, Korf BR, Kulkarni S, Lally E, Leach NT, Lemyre E, Lewis J, Ligon AH, Lu W, Maas RL, MacDonald ME, Moore SDP, Peters RE, Quade BJ, Quintero-Rivera F, Saadi I, Shen Y, Shendure J, Williamson RE, Morton CC. (2008) Characterization of apparently balanced chromosomal rearrangements from the Developmental Genome Anatomy Project. Am. J. Hum. Genet. 82:712-722.
42.           Hodge JC, Quade BJ, Rubin MA, Stewart EA, Dal Cin P, Morton CC. (2008) Molecular and cytogenetic characterization of plexiform leiomyomata provide further evidence for genetic heterogeneity underlying uterine fibroids. Am. J. Pathol. 172:1403-1410.
43.           Lee C, Morton CC. (2008) Structural genomic variation and personalized medicine. N. Engl. J. Med. 358:740-741.
44.           Poitras J, Dal Cin P, Aster JC, DeAngelo DJ, Morton CC. (2008) Novel SSBP2-JAK2 fusion gene resulting from a t(5;9)(q14.1;p24.1) in pre-B acute lymphocytic leukemia.  Genes Chromosomes Cancer 47:884-889.
45.     Robertson NG, Jones SM, Sivakumaran TA, Giersch ABS, Jurado SA, Call LM, Miller CE, Maison SF, Liberman MC, Morton CC:  A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction. Hum. Mol. Genet. 2008; 17:3426-3434.
46.       Hodge JC, T.Cuenco K, Huyck KL, Somasundaram P, Panhuysen CIM, Stewart EA, Morton CC. (2009) Uterine leiomyomata and decreased height: A common HMGA2 predisposition allele. Hum. Genet. 125:257-263.
47.           Brown KK, Alkuraya FS, Matos M, Robertson RL, Kimonis VE, Morton CC. (2009) NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness. Am. J. Med. Genet. 149A:931-938.
48.           Hodge JC, Park PJ, Dreyfuss JM, Assil-Kishawi I, Somasundaram P, Semere LG, Stewart EA, Quade BJ, Lynch AM, Morton CC. (2009) Identifying the molecular signature of del(7)(q22q32) uterine leiomyomata using a paired analysis. Genes Chromosomes Cancer, in press.
49.           Brown KK, Reiss JA, Crow K, Ferguson HL, Kelly C, Fritzch B, Morton CC. (2009) Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35). Hum. Genet. in press.
50.       Kuo SF, Whitney C, Malicki J, Morton CC. Functional characterization of KCTD12. Mech. Dev. under revision.