北京大学 | ENGLISH
讲座信息
基因组医学的成功实践 -- 基因组失衡与孤独症及发育性疾病
发布时间:2009-08-28      点击量:1572
主讲人:吴柏林教授
讲座地点:Room 610, new Life Science Building, Peking University
讲座日期:2009-08-31
 

Bio:
吴柏林,复旦大学特聘教授, 博士生导师。复旦大学生物医学研究院高级PI,
复旦大学医学院和儿科医院双聘教授。哈佛医学院波士顿儿童医院研究员,基因诊断研究室主任,临床分子诊断专科医学主任,分子遗传病理项目主任。上海医科大学医学遗传学硕士,波士顿大学分子遗传学博士,哈佛大学临床遗传学博士后。2003年当选美国医学遗传学院专家委员(FACMG);
2007年当选美国华人遗传学家学会(ACGA)第21任会长。长期在国内外从事遗传医学和基因组医学,
基因诊断和分子病理的科研、教学和临床应用; 致力于出生缺陷及儿童遗传病的研究和临床,领导开发遗传病分子诊断新方法和临床基因检测新技术;
发现和鉴定与疾病相关的基因突变和基因组失衡。参与组织了多次国际会议,
包括历史性的由哈佛大学、麻省理工学院和中华医学会共同主办的21世纪东方-西方医学大会。2005 年担任上海ACGA-Fudan
国际基因组医学大会学术委员会联席主席兼组委会秘书长。2008 年担任香港ACGA-HKSMG
国际遗传医学和基因组医学大会组委会副主席。2008 年担任上海东方科技论坛第115 期 “孤独症: 中国的现状、机遇和挑战”
联席执行主席。巳在国内外应邀讲学30 余次, 被10
余所大学、研究所和机构聘为客座教授和顾问。近期主要聚焦先天性聋病,智障和神经/精神发育性疾病等重大出生缺陷的遗传病因识别/鉴定及其转化医学研究,包括与中国同行的一系列合作研究。近年来,他的团队率先研发了一种可用于临床的全基因组高分辨高通量微阵列基因芯片,以诊断基因组失衡引起的疾病;
成功地发现和证实了两个与孤独症及智力障碍和发育性疾病发病相关的可重复发生的热点区域(16p11.2; 15q13.3),
在与基因组失衡相关的出生缺陷及神经发育和精神类疾病的遗传病因鉴定及转化医学研究方面走在世界前列。这些重要成果已经发表在新英格兰医学杂志等国际著名期刊,并应邀撰写了相关的文献综述。

Recent publications:
1. Shen Y, Irons M, Miller DT, Cheung SW, Lip V, Sheng X, Tomaszewicz
K, Shao H, Fang H, Tang HS, Irons M, Walsh CA, Platt O, Gusella JF, Wu
BL. Development of a focused oligonucleotide-array comparative genomic
hybridization chip for clinical diagnosis of genomic imbalance.
Clinical Chemistry 2007 Dec 1; 53(12):2051-9. [Epub ahead of print,
Sept 27, 2007]
2. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R,
Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer
DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K,
Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ. Autism Consortium.
Association between microdeletion and microduplication at 16p11.2 and
autism. N Engl J Med. 2008 Feb 14; 358(7):667-75. [Epub ahead of
print, Jan 11, 2008]
3. Miller DT, Shen Y, Wu BL. Oligonucleotide microarrays for clinical
diagnosis of copy number variation (Protocol). Curr Protoc Hum Genet.
2008 Jul; Chapter 8:Unit 8.12.
4. Dai P, Li Q, Huang D, Yuan Y, Kang D, Miller DT, Shao H, Zhu Q, He
J, Yu F, Liu X, Han B, Yuan H, Platt OS, Han D, Wu BL: SLC26A4
c.919-2A>G varies among Chinese ethnic groups as a cause of hearing
loss. Genet  Med 2008 Aug 1; 10:586-92
5. Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox
GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O,
Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard
A, Smith SE, Sobeih M, Soul J, Stoler J, Takeoka M, Tan WH, Thakuria
J, Wolff P, Yusupov R, Gusella JF, Daly MJ, Wu BL.
Microdeletion/duplication at 15q13.2q13.3 among individuals with
features of autism and other neuropsychiatirc disorders. J Med Genet.
2009 Apr; 46(4):242-8. (Epub ahead of print, 2008 September 19)
6. Dai P, Yuan Y, Huang D, Zhu X, Yu F, Kang D, Yuan H, Wu BL, Han D,
Wong LJ: Molecular etiology of hearing impairment in Inner Mongolia:
mutations in SLC26A4 gene and relevant phenotype analysis. J Transl
Med. 2008 Nov 30; 6:74.
7. Shen Y, Wu BL. Microarray-based Genomic DNA Profiling Technologies
in Clinical Molecular Diagnostics (Review). Clinical Chemistry 2009
April 1; 55(4):659-69. [Epub ahead of print, Feb 20, 2009]
8. Dai P, Yu F, Han B, Liu X, Wang G, Li Q, Yuan Y, Liu X, Huang D,
Kang D, Zhang X, Yuan H, Yao K, Hao J, He J, He Y, Wang Y, Ye Q, Yu Y,
Lin H, Liu L, Deng W, Zhu X, You Y, Cui J, Hou N, Xu X, Zhang J, Tang
L, Song R, Lin Y, Sun S, Zhang R, Wu H, Ma Y, Zhu S, Wu BL, Han D,
Wong LJ: GJB2 mutation spectrum in 2,063 Chinese patients with
nonsyndromic hearing impairment. J Transl Med. 2009 Apr 14; 7:26.
9. Shen Y, Wu BL. Designing a simple multiplex ligation-dependent
probe amplification (MLPA) assay for rapid detection of copy number
variants in the genome. J. Genet. Genomics 2009; 36(4):257-65
10. Dai P, Stewart AK, Chebib F, Hsu A, Rozenfeld J, Huang D, Kang D,
Lip V, Fang H, Shao H, Liu X, Yu F, Yuan H, Kenna M, Miller DT, Shen
Y, Yang W, Zelikovic I, Platt OS, Han D, Alper SL, Wu BL: Distinct and
novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with
non-syndromic hearing loss. Physiol Genomics. 2009 Jun 9. [Epub ahead
of print]
11. Bixia Xiang1, Hongbo Zhu1, Yiping Shen 2, David T. Miller2,
Kangmo Lu 3, Xiaofeng Hu4, Hans C. Andersson4, Tarachandra M.
Narumanchi4, Yueying Wang5, Jose E. Martinez5, Bai-Lin Wu 2*, Peining
Li3*, Marilyn M. Li4*; Tian-Jian Chen 5*, Yao-Shan Fan1*  Genome-wide
oligonucleotide array CGH for etiological diagnosis of mental
retardation: a multi-center experience on 1,499 clinical cases。J Mol
Diag Accepted
12. Yiping Shen, PhD*,a,b,c,d,  Kira A. Dies, ScM*,a,c, Ingrid A.
Holm, MD, MPHa,c,e, Carolyn Bridgemohan, MDa,c,f,   Magdi M. Sobeih,
MD, PhDa,c,g, Elizabeth B. Caronna, MDa,h, Karen J. Miller, MDa,i,
Jean A. Frazier, MDa,j,k, Iris Silverstein, MDa,l, Jonathan Picker,
MD, PhDa,c,m, Laura Weissman, MDa,c,f, Peter Raffalli, MDa,c,g,
Shafali Jeste, MDa,c,g, Laurie A. Demmer, MDa,i, Heather K. Peters,
MSa,e, Stephanie J. Brewster, MSa,e, Sara J. Kowalczyk, MA, MPHa,h,
Beth Rosen-Sheidley, MSa,i, Caroline McGowan, MSa,m, Andrew W. Duda
III, MSa,l, Sharyn A. Lincoln, MSa,m, Kathryn R. Lowe, MSa,e, Alison
Schonwald, MDa,c,f, Michael Robbins, MDa,c,g, Fuki Hisama, MDa,c,m,
Robert Wolff, MDa,c,g, Ronald Becker, MDa,c,f, Ramzi Nasir, MD,
MPHa,c,f, David K. Urion, MDa,c,g, Jeff M. Milunsky, MDa,h,n, Leonard
Rappaport, MDa,c,f, James F. Gusella, PhD a,c,d, Christopher A. Walsh,
MD, PhDa,c,m, Bai-Lin Wu, PhD, M Med #,a,b,c,o, and David T. Miller,
MD, PhD#,a,b,c,m on behalf of the Autism Consortium Clinical
Genetics/DNA Diagnostics Collaboration$
Clinical Genetic Testing for Patients with Autism Spectrum Disorders.
Pediatrics Accepted


 

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