CONFERENCE ON MOLECULAR BIOLOGY OF HUMAN GENETIC DISEASE

人类遗传疾病分子生物学会议

• 批准号: 2148890
• 负责人: MAIMON M COHEN
• 金额: $ 0.9万
• 依托单位: KEYSTONE CENTER
• 依托单位国家: 美国
• 财政年份: 1994
• 资助国家: 美国
• 起止时间: 1994-01-01 至 1994-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2148890
• 关键词: gene therapy; genetic disorder; genetic mapping; human data; meeting /conference /symposium; molecular biology; molecular genetics; travel

Some of the most exciting recent research advances in human molecular genetics involve the isolation or impending isolation of human disease genes. Such successes provide improved diagnostic capabilities but, at the same time, introduce basic questions regarding the biologic function, regulation and expression of gene products, raising hopes of workable therapeutic modalities. The more important current problems revolve about strategies for more rapid cloning and expression systems and include classification of mouse-human homologies' relative to the development of appropriate animals models of human disease states leading to better gene therapy approaches. This multidisciplinary meeting will convene a group of outstanding investigators, all of whom are internationally recognized authorities in their respective fields of research. The past two years have witnessed significant progress in several areas of investigation with exciting implications for the management and possible treatment of genetic diseases. These advances will be discussed in sessions on: novel inheritance patterns; cancer etiologies; human disease "knockouts"/animal models; homologous recombination/mouse models; specific human disease genes/mutational analysis; human gene therapy; gene mapping and cloning; and human molecular cytogenetics. This meeting is being held in conjunction with a companion Keystone symposium devoted specifically to gene therapy. A previous format of this particular combination (1992) proved extremely successful and provides an interface for scientists working in basic and clinical research areas of animal and human genetics. Most of these investigators are NIH-supported and their participation in this symposium will be underwritten by the award of this application, not to be supplemented by funds from individual research grants. This symposium constitutes a unique forum for the presentation of newer approaches to clinically relevant issues in human inherited diseases.

人类分子中一些最令人兴奋的最新研究进展 遗传学涉及对人类疾病的隔离或即将隔离 基因。这种成功提供了改进的诊断能力，但在 同时，介绍有关生物功能的基本问题， 基因产物的调控和表达，带来了可行的希望 治疗方式。当前更重要的问题围绕着 更快速克隆和表达系统的策略，包括 鼠-人同源基因的分类与人类发育的关系 人类疾病状态的适当动物模型导致更好的基因 治疗即将到来。本次多学科会议将召集一批 杰出的调查员，他们都是国际公认的 他们在各自的研究领域拥有权威。 过去两年在以下几个领域取得了重大进展 对管理层具有激动人心的影响的调查和可能的 遗传病的治疗。这些进展将在 会议内容：新的遗传模式；癌症病因；人类疾病 “基因敲除”/动物模型；同源重组/小鼠模型；特异性 人类疾病基因/突变分析；人类基因治疗；基因图谱 和克隆；以及人类分子细胞遗传学。 这次会议是与一个配套的Keystone一起举行的 专门讨论基因治疗的研讨会。这个的以前的格式 特别的组合(1992)被证明是非常成功的，并提供了一种 为从事基础和临床研究领域的科学家提供的界面 动物和人类的遗传学。这些调查人员中的大多数都得到了NIH的支持 他们参加这次研讨会将由 这项申请的奖励，不能由个人资金补充 研究经费。这次研讨会是一个独特的 介绍人类临床相关问题的新方法 遗传性疾病。