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1、谈谈精准医学,史 江 南京医科大学康达学院药学部,精准医学,精准医学： 研究每个人的基因，结合环境、 生活方式等个体差异，用于疾病预防和治疗的新兴的医疗手段。 关键词： 精准 基因 差异 医学,精准,军事,政治,经济,日常生活,人类基因组计划,基因组（Genome）：物种中所有基因的整体,人类基因组：22对常染色体 男 XY， 女 XX 4000万个基因 30亿个碱基对,基因,发现所有人类基因，找出它们在染色体上的位置，破译人类全部遗传信息。,国际合作 美国，欧洲，中国是唯一的发展中国家 首倡 Dulbecco 1986年 启动 1987年 中国于99年9月启动，承担人类3号染色体短臂上300
2、0万个碱基对的测序。不到一年就完成了。 四张图谱 遗传图谱 物理图谱 序列图谱 基因图谱,意义,1. 人类疾病基因研究 病根,已证明8000多种人类疾病的根源在基因上 如：各种遗传性疾病: 亨廷顿舞蹈症 大部分肿瘤： 乳腺癌、结肠癌单基因突变 肺癌、肝癌多基因突变 代谢性疾病： 糖尿病、肾病、自身免疫性疾病 除了病毒性细菌性疾病，几乎所有疾病都与基因有关！,2. 医学，预防医学研究 如：基因诊断，基因治疗 疾病的易感基因识别 风险人群生活方式 环境因子干预 3. 生物技术 药物、诊断、生物芯片,4. 细胞胚胎 组织工程、干细胞克隆、器官再造 5. 制药工业 药物筛选，个体化的药物治疗、药物基因
3、组学 6. 社会经济 农业，转基因食品，工业药物，制造业，3D打印 7. 生物进化 8. 负面影响,不只是读出人类的全部DNA序列，更重要的是读懂每个基因的功能，每个基因与疾病的关系，真正对生命进行系统的科学解码，由此达到根本上了解认识生命的起源，种间、个体间的差异原因；疾病产生的机制；长寿衰老等困扰人类的最基本生命现象。,人类基因组研究的目的,State of the Union Address 国情咨文,11,State of the Union Address 国情咨文 Jan. 30, 2015,12,Precision Medicine Initiative (PMI),“Tonig
4、ht, Im launching a new Precision Medicine Initiative to bring us closer to curing diseases like cancer and diabetes and to give all of us access to the personalized information we need to keep ourselves and our families healthier.” President Barack Obama, State of the Union Address, January 20, 2015
5、,Definition of Precision Medicine (精准医学的定义),Precision medicine is an emerging approach for disease prevention and treatment that takes into account of peoples individual variations in gens, environmental and lifestyles. The PMI will generate scientific evidences needed to move the concept of precisi
6、on medicine into clinical practice. 什么是精准医学 精准医学是考虑到每个人基因，环境和生活方式等个体差异的用于疾病的预防和治疗的新兴的医疗手段。 精准医学计划将产生使精准医学概念进入临床实践所需的科学依据。,NIH Names Panel to Lead Obamas Precision Medicine Initiative,Co-chairs: Richard Lifton, Yale University School of Medicine; Bray Patrick-Lake, Duke University; Kathy Hudson, the
7、deputy director of science, outreach, and policy at the NIH. The panel members: Esteban Gonzalez Burchard, the University of California, San Francisco; Tony Coles, Yumanity Therapeutics; Rory Collins, the University of Oxford; Andrew Conrad, Google X; Josh Denny, Vanderbilt University. Also on the p
8、anel are Susan Desmond-Hellmann from the Gates Foundation; Eric Dishman from Intel; Kathy Giusti from the Multiple Myeloma Research Foundation; Sekar Kathiresan from the Broad Institute and Harvard Medical School; Sachin Kheterpal from the University of Michigan Medical School; Shiriki Kumanyika fro
9、m the University of Pennsylvania Perelman School of Medicine; Spero Manson from the University of Colorado; P. Pearl ORourke of Partners Health Care System; Richard Platt of Harvard Pilgrim Health Care Institute; Jay Shendure of the University of Washington; and Sue Siegel of GE.,15,The Roles of the
10、 Working Group,The panel will seek input from stakeholders in the Precision Medicine Initiative and define the scope and scale of the initiative, the issues that need to be addressed, and what success would look like 5 and 10 years out. The panel will be formed as a working group of the Advisory Com
11、mittee to the NIH Director and will deliver a preliminary report in September that will inform efforts to explain the role that individual differences play in health. 工作小组的作用就是听取与精准医学计划有关各方的建议和反 馈来制定该计划的范围，规模，需要解决的事项以及五年或十 年后的预定目标。这个工作小组将作为美国NIH负责人的咨询 委员会并将在今年九月发表一个初步报告汇报并解释参加该计 划各方的任务和功能。,16,Obama
12、Announces $215 Million （$2.15亿) Precision-Medicine Genetic Plan Effort Seeks to Take Advantage of Technological Advances to Analyze Peoples Full Genetic Makeups,The $215 million in additional funding, included in the presidents budget for fiscal 2016, would go toward research by the National Institu
13、tes of Health, the NIHs National Cancer Institute and the Food and Drug Administration. The NIH would get $130 million for the genetic mapping project, which would take advantage of technological advances that have made it possibleand relatively affordableto analyze peoples full genetic makeups. In
14、addition to the NIH funding, the National Cancer Institute would get $70 million to study genetic causes of cancer; the FDA would get $10 million to evaluate new diagnostic devices and drugs; and $5 million would be devoted to building the computing and privacy components of the genetic-data network
15、.,17,NIH 1.3 亿美元，百万人基因组计划以及基因修饰的分析研究 NCI 0.7 亿美元，肿瘤基因组学的研究 FDA 0.1 亿美元，对新的肿瘤诊断设备和治疗药物的评估 数据分析0.05亿美元，高质量数据库的开发和个人资料保护措施的研发,NIH Director, Dr. Francis Collins,“Establishing a 1 million person cohort is an audacious endeavor. But the results from studying such a large group of Americans will build the
16、scientific evidence necessary for moving precision medicine from concept to reality. Im confident that weve pulled together the best of the best in this working group to put us on the right path forward.“ 建立一个百万人的基因组排列研究是个很大胆的努力。但通过该大样本研究产生的结果将为推动把精准医学这个概念变成医学实践提供必需的科学依据。我相信我们把最好的精英们集合到我们的工作小组，他们将指引我们在正确的道路上前进。,19,Aims of Precision Medicine Initiative (精准医学计划的目标),精准医学计划有两个部分（目标）： 1. 短期目标 肿瘤学研究 2. 长期目标 应用到更广泛的与健康事务和不同的疾病中 现在对完成这两个目标都有了一定的基础，这主要归因于基础研究的进展，如分子生物
