Conference--Genetic Disease Research Need /Opportunity

会议--遗传疾病研究需求/机会

• 批准号: 6942323
• 负责人: Michael Shaw WATSON
• 金额: $ 4.5万
• 依托单位: AMERICAN COLLEGE OF MEDICAL GENETICS
• 依托单位国家: 美国
• 财政年份: 2003
• 资助国家: 美国
• 起止时间: 2003-08-01 至 2008-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6942323
• 关键词: congenital disorders; developmental disease /disorder; genetic disorder; health science research; meeting /conference /symposium; mental retardation; orphan disease /drug; travel

DESCRIPTION (provided by applicant): The annual meeting of the American College of Medical Genetics (ACMG) brings together a large proportion of basic and clinical investigators of rare genetic diseases. The organizers propose a series of workshops to be held in conjunction with ACMG meetings to consider issues related to identifying needs and opportunities for collaborative research involving rare genetic diseases (RGDs) associated with birth defects, mental retardation and developmental disabilities, and would set the stage for clinical and translational research. RGDs present many challenges to the development of effective research plans. These include infrastructure to identify and register patients with RGDs, their associated databases, identification and/or collection of biological specimens, coordination of rapidly evolving therapeutic interventions, and the coordination of studies of a usually limited number of experts involved with any individual rare condition with expertise from correlative sciences and other specialties. A coordinated and collaborative group would facilitate research into the epidemiology, intervention, and prevention of these rare conditions. It would allow for the integration of the many complementary programs overseen by non-NIH governmental organizations and agencies and, in association with currently funded NIH initiatives such as the Mental Retardation Research Centers and the National Children's Study, be highly synergistic with regard to RGD research. The annual workshops over the five years of this application would evaluate the existing models for facilitating collaborative research such as the consortium and cooperative group models. Specific diseases or classes of diseases would be used to identify the research gaps in the current system, the types of research that would be enabled, and the issues that rare genetic diseases raise that drive the need for collaborative research. The workshops would bring together representatives of government agencies, basic and clinical researchers, consumers and families, women, minorities, and underserved populations and geneticists. The first workshop in March 2004 would focus on the current models for collaborative research, the needs and potential benefits of collaborative research for these conditions, and assess collaborative research systems for a specific disease such as the lysosomal storage diseases or cystic fibrosis.

描述（由申请人提供）：美国医学遗传学学院（ACMG）的年度会议汇集了大量罕见遗传疾病的基本和临床研究者。 组织者建议将一系列讲习班与ACMG会议一起举行，以考虑与确定涉及罕见遗传疾病（RGD）的需求和机会有关的问题，这些问题与罕见的遗传疾病（RGD）有关，与出生缺陷，精神障碍和发育障碍有关，并将为临床和转化研究奠定阶段。 RGD为制定有效的研究计划带来了许多挑战。 这些包括基础架构以识别和注册患者使用RGD，其相关数据库，生物标本的识别和/或收集，对治疗干预措施的快速发展的协调以及与相关科学和其他专业专家及其与任何个人稀有条件有关的专家的研究协调，以及相关科学和其他专业的任何个人稀有条件的协调。 一个协调和协作的小组将促进对这些罕见条件的流行病学，干预和预防的研究。 这将允许整合非NIH政府组织和机构监督的许多补充计划，并与当前资助的NIH倡议（例如心理迟缓研究中心和国家儿童研究）合作，在RGD研究方面非常协同。 本申请的五年中的年度研讨会将评估现有模型，以促进合作研究，例如财团和合作集团模型。 特定疾病或类别的疾病将用于识别当前系统中的研究差距，将启用的研究类型以及罕见的遗传疾病引发的问题，从而促进了进行协作研究的需求。 这些研讨会将召集政府机构，基础和临床研究人员，消费者和家庭，妇女，少数民族以及服务不足的人群和遗传学家的代表。 2004年3月的第一个研讨会将重点关注当前的合作研究模型，在这些条件下的协作研究的需求和潜在好处，并评估针对特定疾病的协作研究系统，例如溶酶体储存疾病或囊性纤维化。