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唐氏综合征:患者注册中心、研究数据库和生物库国家会议。

Down syndrome: national conference on patient registries, research databases, and biobanks.

机构信息

Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892-7510, USA.

出版信息

Mol Genet Metab. 2011 Sep-Oct;104(1-2):13-22. doi: 10.1016/j.ymgme.2011.07.005. Epub 2011 Jul 13.

Abstract

A December 2010 meeting, "Down Syndrome: National Conference on Patient Registries, Research Databases, and Biobanks," was jointly sponsored by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at the National Institutes of Health (NIH) in Bethesda, MD, and the Global Down Syndrome Foundation (GDSF)/Linda Crnic Institute for Down Syndrome based in Denver, CO. Approximately 70 attendees and organizers from various advocacy groups, federal agencies (Centers for Disease Control and Prevention, and various NIH Institutes, Centers, and Offices), members of industry, clinicians, and researchers from various academic institutions were greeted by Drs. Yvonne Maddox, Deputy Director of NICHD, and Edward McCabe, Executive Director of the Linda Crnic Institute for Down Syndrome. They charged the participants to focus on the separate issues of contact registries, research databases, and biobanks through both podium presentations and breakout session discussions. Among the breakout groups for each of the major sessions, participants were asked to generate responses to questions posed by the organizers concerning these three research resources as they related to Down syndrome and then to report back to the group at large with a summary of their discussions. This report represents a synthesis of the discussions and suggested approaches formulated by the group as a whole.

摘要

2010 年 12 月,“唐氏综合征:患者登记处、研究数据库和生物库全国会议”在马里兰州贝塞斯达的美国国立卫生研究院 (NIH) 国立儿童健康与人类发展研究所 (NICHD) 和科罗拉多州丹佛市全球唐氏综合征基金会 (GDSF)/琳达·克里尼克唐氏综合征研究所共同主办。来自各个倡导团体、联邦机构(疾病控制和预防中心以及 NIH 的各个研究所、中心和办公室)、行业成员、临床医生和来自各个学术机构的研究人员的大约 70 名与会者和组织者受到了 NICHD 副主任 Yvonne Maddox 博士和琳达·克里尼克唐氏综合征研究所执行主任 Edward McCabe 博士的欢迎。他们要求与会者通过演讲和分组讨论重点关注单独的联系登记处、研究数据库和生物库问题。在每个主要会议的分组讨论中,要求参与者针对组织者提出的与唐氏综合征相关的这三个研究资源的问题做出回答,然后向全体小组报告他们的讨论摘要。本报告代表了整个小组讨论和提出的方法的综合。

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