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The World Congress on Chromosome Abnormalities

世界染色体异常大会

基本信息

批准号：
6730317
负责人：
JANNINE De Mars CODY
金额：
$ 2.8万
依托单位：
UNIVERSITY OF TEXAS HLTH SCIENCE CENTER
依托单位国家：
美国
项目类别：
财政年份：
2004
资助国家：
美国
起止时间：
2004-03-01 至 2005-02-28
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/6730317
关键词：
chromosome aberrations endocrinology meeting /conference /symposium metabolism molecular genetics neuroimaging

项目摘要

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.

描述（由申请人提供）：本次会议的总体目标是优化出生时染色体异常儿童的具体治疗，使他们能够过上健康和自主的生活。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人的缺失或复制的治疗方案。组织者将尝试创建一个由临床医生和科学家组成的跨学科社区，他们将设计标准化的评估工具，用于对染色体异常个体进行综合表型和基因型评估。在设计综合征特异性评估之前，这一步骤是必要的。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一组关于染色体异常个体的统一、系统评估的论文。这一目标将作为一个会议启动，在此期间将召集六个工作组，重点是分子遗传学，内分泌学和代谢，神经和解剖成像，感知和通信，认知神经科学，数据集成和生物信息学。为此，本次会议将配备足够的行政人员，以便及时推进，而不是完全依赖委员会成员的志愿时间。本申请为将于2004年6月在德克萨斯州圣安东尼奥举行的染色体畸变世界大会科学会议寻求资金。