第二届国际罕见病研究联盟会议

第二届国际罕见病研究联盟会议

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时间：11/07-11/09
地点： 深圳
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第二届国际罕见病研究联盟会议

第二届国际罕见病会议由国际罕见病研究联盟主办，中华医学会医学遗传学分会，中国稀有病联盟，中国罕见病发展中心及国家基因库协办，在中华医学会的支持下，将于2014年11月7-9日在中国•深圳举行。
罕见病分子诊断也是转化医学的重大应用之一，一是将先进的技术转化为诊断方法；二是转化为遗传咨询；三是推进科技进步，阻断遗传性疾病、罕见性疾病，使我们的后代越来越健康。本文是记者对上海交通大学医学院附属上海儿童医学中心检验科主任傅启华教授关于“下一代测序技术在罕见病分子诊断中的应用”的采访稿。
在患者权益保护组织与国会的共同努力下，1983年美国颁布《罕见病药物法案》，使罕见病研究在过去30年中得到迅速发展。美国患病人数低于20万人的疾病被定义为罕见病，政府为补偿了其研发成本在药品销售上实施优惠政策，此法案促进了罕见病群体治疗产品（包括药品、疫苗、诊断试剂）的开发与上市。
会议简介

第二届国际罕见病研究联盟会议

为了促进中国以及全球对罕见病和各种遗传病的诊断和治疗的发展，创造整个领域的专家学者，科学家以及临床医生就国际最先进的科研，诊断，治疗等的技术和理念进行交流，学习和相互借鉴的平台，实现罕见病行业资源和前沿信息的共享，发展的合作机会，培育更多的遗传咨询人才。华大基因与国际罕见病研究联盟特定于中国召开“第二届国际罕见病研究联盟会议”（简称IRDiRC会议）。

将于2014年11月7-9日在中国•深圳隆重举行，本会议是全球罕见病领域会议规模最大、演讲人员水平最高、最具国际影响力的年度盛会！届时将有超过600名的业界领袖、临床医生、科研专家学者、药厂企业高管、行业巨擘、样本联盟、政府决策者参加，50家以上的机构、40家以上的国内外大众及专业媒体参与。

罕见病又称孤儿病，有相当数量的罕见病是由单基因突变所引起的。比如, 瓷娃娃”成骨不全症“渐冻人”肌萎缩侧索硬化等。本次大会将围绕罕见病临床诊断及应用、跨领域研究及技术、罕见病治疗理论及方法等主题展开广泛而深刻的探讨；此外，大会还设置了遗传咨询培训课程。会议内容涉及出生缺陷、神经障碍、代谢异常、免疫疾病、眼科疾病、生长发育异常、遗传疾病、药物遗传、遗传咨询以及药物学等罕见病各相关的领域。

大会亮点

第二届国际罕见病研究联盟会议

• “罕见”的平台

两大空间（国内、国外）、两大沟通平台（线上、线下）、六大主体（科研机构、临床医生、病友联盟、药厂及企业、样本联盟、投资公司）、十大学科融合交错的大平台。

• “罕见”的沟通

10分钟时间在分会上宣传自己现有资源、目标及需求，传达合作诉求，吸引互补或志同道合之人，召开蜂窝会议（10人小型合作交流会），进行面对面沟通，达到最终合作目的。

• “罕见”的培训由中国临床专家及国际顶尖研究团队合作，面向所有参会人员进行的为期三天的遗传咨询培训。培训结束后，学员可获得国家I类学分10分及会议主办方颁发的培训证明。

• “罕见“的计划

病友&医生联盟之“同病相联“第一批成果展示，寻找罕见病基因之“2020 寻找上帝密码”罕见病计划启动。

• “罕见”的活动

罕见病发展中心组织的—罕见病论坛，公益性植树纪念活动，“罕 见世界”罕见病摄影展，戈谢病组织的—“萤火虫”合唱团公益表演。

• “罕见”的曝光度

40家以上国内外大众及专业媒体对会议进行3天全程现场直播及会后采访。

大会议题

第二届国际罕见病研究联盟会议

• 罕见病临床诊断和应用

测序和其他组学技术介绍

测序数据演绎

罕见病诊断对病人和医疗体系的影响

罕见病研究信息和分享

• 跨领域研究及技术

样品库和信息库介绍

罕见病相关的国家政策与计划

罕见病研究伦理与病人互动

“孤儿药”卫生技术评价

• 罕见病治疗理论及方法

基因/细胞水平疗法

罕见病治疗理论发展概述

罕见病药物监管所面临的挑战

未来的可能性和挑战性展望

• 罕见病教育与培训

罕见病的国际现状分析

罕见疾病医疗和实验室的应用基因组学

遗传学新技术和数据库

遗传解读

演讲嘉宾

第二届国际罕见病研究联盟会议

Karen Aiach
Founding President / CEO, Lysogene
Russell Basser
Chief Medical Officer, CSL Limited
Michael Bamshad
Professor, Seattle Children's Hospital, University of Washington
Ségolène Aymé
Coordinator / Emeritus Director of Research, IRDiRC
Matthew Bellgard
Professor / Director, Centre for Comparative Genomics, Murdoch University
Michael Brudno
Associate Professor / Research Chair, Hospital for Sick Children, University of Toronto
Kym Boycott
Neurogeneticist / Investigator, Children's Hospital Eastern Ontario
Han Brunner
Professor, Nijmegen University Hospital
Seng Cheng
Head of R&D, Rare Diseases, Genzyme, a Sanofi Company
Maya Chopra
Clinical Geneticist / Course Director, Shanghai First Maternity and Infant Hospital
Radoje Drmanac
Chief Scientific Officer / Co-Founder, Complete Genomics
Tao Duan
President / CEO, Shanghai 1st Maternity and Infant Hospital of Tongji University
Christian Gilissen
Bioinformatician, Radboud University Medical Centre, Nijmegen University Hospital
Jack Goldblatt
Clinical Professor / Director, Genetic Services & Familial Cancer Program of Western Australia
Stephen Groft
Retired / Former Director, Office of Rare Diseases Research, National Center for Advancing Translational Sciences (NCATS)
Ning Guang
Professor, Laboratory of Endocrine & Metabolic Diseases, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences
Matthew Hurles
Senior Group Leader, Genome Mutation and Genetic Disease Group, Wellcome Trust Sanger Institute
Shangzhi Huang
Professor, Institute of Medical Sciences Chinese Academy of Medical Sciences, Peking Union Medical College
Hui Jiang
Deputy Director, BGI-Research
Raúl Insa
CEO, SOM Biotech
Marlene Haffner
Founding President / CEO, Haffner Associates, LLC
Fan Jin
Professor, Women's Hospital, Zhejiang University School of Medicine
Brian Kaspar
Associate Professor / Investigator, Center for Childhood Cancer, Nationwide Children's Research Institute
Petra Kaufmann
Director, Division of Clinical Innovation, National Center for Advancing Translational Sciences (NCATS)
Alastair Kent
Director, Genetic Alliance UK
Brett Monia
Senior Vice President, Isis Pharmaceuticals
Nigel Laing
Professor, University of Western Australia
Yann Le Cam
CEO, EURORDIS
Paul Lasko
Chair / Scientific Director, IRDiRC / Institute of Genetics, CIHR
David K Lee
Director, Office of Legislative and Regulatory Modernization, Health Canada
Elizabeth McNeil
Acting Director, Office of Clinical Research at NIH/NINDS
Robert Kuhn
Associate Director, UCSC Genome Browser, University of California Santa Cruz
Barend Mons
Professor / Scientific Director, Biosemantics Group, Leiden University Medical Center
Willem Ouwehand
Professor, University of Cambridge & Wellcome Trust Sanger Institute and NHS Blood and Transplant
Ming Qi
Professor / Chief Scientist, BGI Health
Sarah Sawyer
Assistant Professor / Clinical Geneticist, University of Ottawa and Children's Hospital of Eastern Ontario
Albert Seymour
Vice President / Head, Discovery Research, Shire
Wei Wang
Deputy Director / Chief Medical Officer, BGI Health, BGI Shenzhen
Xue Zhang
Professor / Director, PUMCH Laboratory of Clinical Genetics, Chinese Academy of Medical Sciences & Peking Union Medical College
Weiye Wang
Director, Xin Hua Hospital, Affiliated to Shanghai Jiao Tong University School of Medicine
Sharon Terry
President / CEO, Genetic Alliance US
Jun Wang
Professor / Director, BGI
Heidi Rehm
Associate Professor / Director, Laboratory for Molecular Medicine, Partners HealthCare Center for Personalized Genetic Medicine
Qiuju Wang
Professor / Director, Department of Otolaryngology/Head and Neck Surgery, Institute of Otolaryngology, China PLA General Hospital
Qing K Wang
Professor / Director, Key Laboratory of Molecular Biophysics, Ministry of Education, Huazhong University of Science & Technology
Zhenglin Yang
Professor / Director, Center for Human Molecular Biology and Genetics, Sichuan Academy of Medical Sciences & Sichuan Provincial People’s Hospital
Kun Xia
Director, The State Key Laboratory of Medical Genetics, The School of Life Sciences, Central South University
Yaping Yang
Associate Professor / Director, Department of Molecular and Human Genetics, Baylor College of Medicine
Huanming Yang
Professor / Chaiman, BGI
Yong Zhang
Director, China National Genbank
Hongbing Zhang
Professor, Peking Union Medical College
Yiming Wang
Professor / Senior Advisor, Medical Genetics, BGI Dx
Xuejun Zhang
Professor / Director, Key Lab of Dermatology, Ministry of Education
Jianguo Zhang
Group Leader of Mendelian Disorders Research, BGI-Shenzhen
Yaffa Rubinstein
Program Director for Patient Resources for Clinical and Translational Research, Office of Rare Diseases Research, National Center for Advancing Translational Sciences (NCATS)
联系方式

第二届国际罕见病研究联盟会议

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Tel: 0755-25273653

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报名入口：http://irdirc-shenzhenconference2014.org/zh-hans/zhu-ce-he-zhai-yao-di-jiao-zhi-nan

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会议地址

第二届国际罕见病研究联盟会议


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