JOINT CONFERENCE ON HUMAN GENETIC DISEASE & GENE TRANFER

本申请要求部分支持的科学计划的一个 1992年，在科罗拉多州铜山举行的Keystone研讨会。 这些 专题讨论会为交流以下方面的科学信息提供了论坛： 人类和医学遗传学的基础和应用方面，以及 促进国际学者之间的个人联系 在这个快速发展的领域。 本次会议召开之际 重要的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正致力于 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 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）最新的技术， 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。 基因分离使得 提高了诊断能力，但提出了有关 基因产物的生物学功能。 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 通过同源重组的遗传信息将被呈现。 需要改进定位克隆技术， 进化同源性，并描绘基因分离的功能， 这些技术;该计划将包括开发战略， 这些程序。 多种载体系统应用于基因工程 中的表达式和函数进行评估 细胞、器官和整个动物的发育。 特定人类遗传 疾病，特别是那些最有可能成为基因治疗候选者的疾病 在不久的将来，将详细讨论，因为将知识 从连续基因缺失综合征的经验中获得， 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 增强”。 预计的方案包括单独的会议处理 与上述主要重点，以及共同 对参与者的观众感兴趣。

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.