JOINT CONFERENCE ON HUMAN GENETIC DISEASE & GENE TRANFER

此应用程序请求部分支持一个 1992年在科罗拉多州铜山举行的联合Keystone研讨会。这些 研讨会为交流科学信息提供了一个论坛 人类和医学遗传学的基础和应用方面，以及 促进国际学术界之间的个人联系 在这个快速发展的领域。这次会议的召开正值 重要进展和强大的分析技术在阐明 真核生物的基础分子遗传学是针对 人类遗传学的临床实践：重组DNA、DNA-和 染色体介导的基因转移、流式细胞术、聚合酶链法 反应、同源重组和转基因动物。这 联合研讨会将汇集公认的国际专家 在两个主要领域：(1)识别和识别和 克隆重要的人类疾病基因；(2)基因转移策略 基因治疗的最终便利化。基因分离允许 提高了诊断能力，但引发了关于 基因产品的生物学功能。使用转基因动物作为 分析基因功能的工具，以及交换或替换的能力 将介绍通过同源重组获得的遗传信息。 位置克隆需要改进的技术，通过 进化同源性，并描绘了由 这些技术；该计划将包括利用 这些程序。广泛的载体系统应用于基因 中的表达式和函数也将计算传输 细胞、器官和整个动物的发育。人类特有的基因 疾病，尤其是那些最有可能接受基因治疗的疾病 在不久的将来，将详细讨论，以及将知识 从邻接性基因缺失综合征和 基因组印记。本次研讨会结合了两个会议，“分子” 《人类遗传病生物学》和《基因转移、替换和 计划的方案包括单独的会议，处理 与上述主要焦点，以及共同 与会者的共同兴趣。

This application requests partial support for the scientific program of a combined Keystone Symposium in Copper Mountain, CO, in 1992. These symposia provide a forum for the exchange of scientific information on fundamental and applied aspects of human and medical genetics, and promote personal contacts among the international community of scholars in this rapidly-advancing field. This meeting comes at a time when important advances and powerful analytical techniques in elucidating the basic molecular genetics of eukaryotic organisms are being directed at the clinical practice of human genetics: recombinant DNA, DNA- and chromosome-mediated gene transfer, flow cytometry, polymerase chain reaction, homologous recombination, and transgenic animals. This combined symposium will bring together recognized international experts in two major areas: (1) the newest technologies for identifying and cloning important human disease genes; (2) gene transfer strategies for the eventual facilitation of gene therapy. Gene isolation allows improved diagnostic capabilities, but raises questions concerning the biological function of gene products. The use of transgenic animals as tools to dissect gene function, and the ability to exchange or replace genetic information by homologous recombination will be presented. Improved technologies are needed for positional cloning, cloning by evolutionary homology, and delineating the functions of genes isolated by these techniques; the program will include strategies for exploitation of these procedures. A wide variety of vector systems applied to gene transfer will also be evaluated for expression and function in development in cells, organs, and whole animals. Specific human genetic diseases, especially those most likely to be candidates for gene therapy in the near future, will be discussed in detail, as will the knowledge gained from experience with contiguous gene deletion syndromes and genomic imprinting. This symposium combines two meetings, "The Molecular Biology of Human Genetic Disease" and "Gene Transfer, Replacement, and Augmentation". The projected program includes separate sessions dealing with the main foci described above, as well as joint sessions of common interest to the combined audience of participants.