Conference--Genetic Disease Research Need /Opportunity

会议--遗传疾病研究需求/机会

• 批准号: 6670701
• 负责人: Michael Shaw WATSON
• 金额: $ 1万
• 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/6670701
• 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（申请人提供）：美国医学遗传学会（ACMG）年会汇集了很大一部分罕见遗传病的基础和临床研究者。 组织者提议与 ACMG 会议同时举办一系列研讨会，以考虑与确定涉及出生缺陷、智力迟钝和发育障碍相关罕见遗传病 (RGD) 的合作研究的需求和机会相关的问题，并为这一问题奠定基础。用于临床和转化研究。 RGD 给有效研究计划的制定带来了许多挑战。 其中包括识别和登记 RGD 患者的基础设施、相关数据库、生物标本的识别和/或收集、快速发展的治疗干预措施的协调，以及涉及任何个别罕见病症的通常数量有限的专家的研究的协调相关科学和其他专业的专业知识。 一个协调和协作的小组将促进对这些罕见疾病的流行病学、干预和预防的研究。 它将允许整合由非 NIH 政府组织和机构监督的许多补充计划，并与目前资助的 NIH 举措（例如智力迟钝研究中心和国家儿童研究中心）相结合，与 RGD 研究高度协同。 该应用程序五年内的年度研讨会将评估促进协作研究的现有模型，例如联盟和合作团体模型。 特定疾病或疾病类别将用于确定当前系统中的研究差距、将进行的研究类型以及罕见遗传病引起的推动合作研究需求的问题。 研讨会将汇集政府机构、基础和临床研究人员、消费者和家庭、妇女、少数民族、服务不足人群和遗传学家的代表。 2004 年 3 月举行的第一次研讨会将重点讨论当前的合作研究模式、针对这些疾病的合作研究的需求和潜在益处，并评估针对特定疾病（如溶酶体贮积病或囊性纤维化）的合作研究系统。