The World Congress on Chromosome Abnormalities

描述（由申请人提供）：本次会议的总体目标是优化先天性染色体异常儿童的具体治疗，使他们能够过上健康自主的生活。为了实现这一目标，组织者试图更好地了解染色体异常对特定器官和组织的影响，以便设计出针对每个个体缺失或复制的治疗方案。组织者将尝试创建一个跨学科的临床医生和科学家社区，他们将设计标准化的评估工具，对染色体异常的个体进行全面的表型和基因型评估。这一步是必要的，然后才能设计具体的综合征评估。因此，会议将强调从可能的分子机制的角度进行表型评估。这一系列会议的成果将是发表一组关于染色体异常个体统一、系统评估的论文。

DESCRIPTION (provided by applicant): The overall goal of this conference is to optimize the specific treatment of children born with chromosome abnormalities so they can lead healthy and autonomous lives. To accomplish this goal, the organizers seek to better understand the consequences of chromosome abnormalities on specific organs and tissues so that treatment regimes can be devised which are specific to each individual's deletion or duplication. The organizers will try to create an interdisciplinary community of clinicians and scientists who will devise standardized evaluation tools for comprehensive phenotypic and genotypic evaluation of individuals with chromosome abnormalities. This step is necessary before syndrome specific evaluations can be designed. Thus, the meeting will emphasize phenotypic assessment with the perspective of possible molecular mechanisms. The product of this series of sessions will be a published group of papers on the uniform, systematic assessment of individuals with chromosome abnormalities. This objective will be initiated as a conference during which six working groups will be convened, focusing on Molecular Genetics, Endocrinology and Metabolism, Neuro & Anatomical Imaging, Perception & Communication, Cognitive Neuroscience, and Data Integration and Bioinformatics. To do so, this conference will have adequate administrative staff so that it can move forward in a timely manner and not rely entirely on the volunteer time of committee members. This application seeks funding for the Scientific Sessions of the World Congress on Chromosome Abnormalities, to be held in June of 2004 in San Antonio, Texas.