Rare Cancer Genetics Registry

罕见癌症遗传学登记处

• 批准号: 7942897
• 负责人: DIANNE M FINKELSTEIN
• 金额: $ 48.8万
• 依托单位: MASSACHUSETTS GENERAL HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-09-30 至 2012-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7942897
• 关键词: Area; Authorization documentation; Behavioral; Bioinformatics; Cancer Genetics Network; Clinic; Clinical; Clinical Research; Clinical Trials; Communication; Communities; Complex; Computers; Consent; DNA; DNA Library; Data; Data Collection; Databases; Disease; Ensure; Epidemiologist; Epidemiology; Event; Family history of; Funding; Genetic; Genetic Determinism; Grant; Human Resources; Individual; Longitudinal Studies; Malignant Neoplasms; Medical Records; Natural History; Online Systems; Pathologic; Patients; Rare Diseases; Recruitment Activity; Registries; Research; Research Design; Research Infrastructure; Research Personnel; Research Project Grants; Resources; Sampling; Scientist; Secure; Specialist; Specific qualifier value; Specimen; Stimulus; System; Translational Research; Treatment Efficacy; United States National Institutes of Health; Update; cancer genetics; cancer therapy; clinical research site; data management; design; genetic registry; improved; insight; interest; meetings; patient registry; research study; response; tool; tumor; web site

DESCRIPTION (provided by applicant): This proposal is for a Rare Cancer Genetics Registry (RCGR). The proposal is being submitted for Challenge Area: 07: Enhancing Clinical Trials and specific Challenge Topic: Rare Disease Genetic Patient Registry: 07-OD(ORDR)-102. We will develop a registry of individuals with rare cancers who are interested in participating in clinical research. We propose to rapidly recruit a large number of individuals with rare cancers and maintain their data in a secure web-based database. Registrants will give consent to be re-contacted for participation in studies and to provide updates to their clinical information. They will give samples from which DNA will be extracted and stored in a central bank. To develop this infrastructure we will leverage the resources and scientific community of the Cancer Genetics Network (CGN). The CGN Steering Committee will guide decisions on who and what data should be in the Registry, recruit registrants from their cancer clinics, and review all requests for access to resources of the registry. We will build and maintain a web-based resource for communication about the Registry with researchers, including a query tool which can be used to characterize the registrants and samples available for studies. We will provide researchers who contact the RCGR with biostatistical support to plan and design studies using registry subjects. This project will fill an important gap in the research infrastructure, providing a resource to recruit sufficient numbers of cases needed to perform important clinical and translational research such as exploring the genetic determinants of disease and response to therapy. Such studies are often infeasible because the subject pool is small, but have the potential to reveal the etiologic mechanisms not only of specific rare cancers, but possibly of more common and complex tumors. By utilizing the existing infrastructure of the CGN, we will be able to quickly and economically develop this infrastructure within the two years of this Challenge Grant, which can subsequently be supported by research grants from NIH or other agencies. This project also serves the intent of the Challenge Grants related to stimulus of the economy, as it will require hiring personnel at the clinical sites and at the coordinating center who are not currently funded or employed. Thus, this project will be a boost to the economy while improving the research infrastructure, increasing the opportunity for new insights into the causes of and treatment of cancer. This project will fill an important gap in the research infrastructure, providing a resource to recruit sufficient numbers of cases needed to perform important clinical research including clinical trials and analyses of the genetic determinants of disease and treatment efficacy in these rare diseases. Such studies are currently difficult to perform, but have the potential to reveal the etiologic mechanisms not only of specific rare cancers, but possibly more common and complex tumors. By utilizing the existing infrastructure of the CGN, we will be able to quickly and economically develop this infrastructure within the two years of this Challenge Grant, thus rapidly building an important tool for research into rare and under-studied cancers.

描述（由申请人提供）：本提案适用于罕见癌症遗传学登记处 (RCGR)。该提案提交的挑战领域：07：加强临床试验和具体挑战主题：罕见病遗传患者登记：07-OD(ORDR)-102。我们将建立一个有兴趣参与临床研究的罕见癌症患者的登记册。我们建议快速招募大量患有罕见癌症的人，并将他们的数据保存在安全的网络数据库中。注册者将同意重新联系参与研究并提供其临床信息的更新。他们将提供样本，从中提取 DNA 并将其存储在中央银行。为了开发这一基础设施，我们将利用癌症遗传学网络 (CGN) 的资源和科学界。 CGN 指导委员会将指导有关哪些人以及哪些数据应纳入注册中心的决策，从其癌症诊所招募注册者，并审查所有访问注册中心资源的请求。我们将建立和维护一个基于网络的资源，用于与研究人员就注册系统进行交流，包括一个查询工具，可用于描述注册者的特征和可用于研究的样本。我们将为联系 RCGR 的研究人员提供生物统计支持，以利用注册受试者来规划和设计研究。该项目将填补研究基础设施的一个重要空白，提供资源来招募足够数量的病例，以进行重要的临床和转化研究，例如探索疾病的遗传决定因素和对治疗的反应。此类研究通常不可行，因为受试者规模较小，但有可能不仅揭示特定罕见癌症的病因机制，而且可能揭示更常见和复杂肿瘤的病因机制。通过利用 CGN 的现有基础设施，我们将能够在挑战资助的两年内快速、经济地开发该基础设施，随后可以得到 NIH 或其他机构的研究资助的支持。该项目还服务于与经济刺激相关的挑战补助金的目的，因为它将需要在临床地点和协调中心雇用目前没有资助或雇用的人员。因此，该项目将促进经济发展，同时改善研究基础设施，增加对癌症原因和治疗的新见解的机会。该项目将填补研究基础设施的重要空白，提供资源来招募进行重要临床研究所需的足够数量的病例，包括临床试验和疾病遗传决定因素分析以及这些罕见疾病的治疗效果。此类研究目前很难进行，但有可能不仅揭示特定罕见癌症的病因机制，而且可能揭示更常见和复杂肿瘤的病因机制。通过利用 CGN 的现有基础设施，我们将能够在挑战资助的两年内快速、经济地开发该基础设施，从而快速构建一个用于研究罕见和尚未充分研究的癌症的重要工具。