The Human Variome Project: Collection of Human Gene Variation

人类变异组计划：人类基因变异的收集

• 批准号: 7166887
• 负责人: Michael Shaw WATSON
• 金额: $ 1.5万
• 依托单位: AMERICAN COLLEGE OF MEDICAL GENETICS
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-06-19 至 2007-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7166887
• 关键词: genetic polymorphism; genome; meeting /conference /symposium; travel

DESCRIPTION (provided by applicant): A meeting is being held to address a great need in the areas of single gene disorder, genetics of common disease (e.g. asthma, schizophrenia, etc) and drug side effects due to genetic differences between people. This need is being able to access up to date lists of human gene variation of one form or another as well as accurate and complete records of studies attempting to identify genes responsible for common disease and drug side effects. This would allow those responsible to deliver timely and accurate genetic healthcare and inform research in the area. Systematic and complete collection of this data and its expert curation, ready availability and searchability is not available at this time despite numerous and some large scale, well meaning and expertly curated and designed databases being available. This meeting will formally initiate the global "Human Variome Project" to correct this deficiency and prepare for a deluge of faults in genes causing single gene disorder, at least, of some 100 to 1000 faults in each of the 24,000 genes. The meeting brings together representatives relevant to the task and includes bioinformaticians, clinical geneticists, researchers, database curators, diagnostic laboratory heads, common disease variation experts, genome sequencers, funders as well as representatives of all the World Health Organization's (WHO) regions of the world. Eight sessions are essentially planned around these groupings. The meeting has the backing of the WHO, American College of Medical Genetics, OECD, European Commission and UNESCO. Representatives of these and other key organizations such as the American Society of Human Genetics will be attending. The meeting comprises a majority of invitees, who will develop a series of recommendations in the listed areas. This initiative emerged from the single gene disorder field but the common disease community is well represented and the meeting would not preclude an analogous meeting primarily of that community.

描述（由申请人提供）：正在举行一次会议，以解决单个基因疾病，常见疾病遗传学（例如哮喘，精神分裂症等）的巨大需求以及由于人们之间的遗传差异而引起的药物副作用。这种需求是能够访问一种形式或另一种形式的人类基因变异的最新清单，以及试图识别负责常见疾病和药物副作用的基因的精确而完整的研究记录。这将使负责及时准确的遗传医疗保健并为该地区的研究提供信息。这些数据及其专家策划的系统和完整收集，尽管有许多大规模，良好的含义，精心策划和设计的数据库，目前尚无目前可用的可用性和可搜索性。 这次会议将正式启动全球“人类变化项目”，以纠正这种缺陷，并准备在24,000个基因中的每个基因中至少造成单个基因疾病的基因中的大量缺陷。会议汇集了与任务相关的代表，包括生物信息学家，临床遗传学家，研究人员，数据库策展人，诊断实验室负责人，常见疾病变异专家，基因组序列者，资助者以及世界卫生组织（世界卫生组织）全球（WHO）地区的代表。本质上是围绕这些分组计划的八个课程。会议得到了世卫组织，美国医学遗传学，经合组织，欧洲委员会和联合国教科文组织的支持。这些和其他关键组织的代表将参加美国人类遗传学学会。 会议包括大多数受邀者，他们将在上市地区提出一系列建议。这项倡议来自单基因障碍领域，但共同疾病界的代表很好，这次会议不会排除主要是该社区的类似会议。