Resources to Assist Investigations in Primary Immunodeficiency Diseases (U24)

协助原发性免疫缺陷疾病调查的资源 (U24)

• 批准号: 9240568
• 负责人: CHARLOTTE CUNNINGHAM-RUNDLES
• 金额: $ 69.77万
• 依托单位: IMMUNE DEFICIENCY FOUNDATION
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-04-01 至 2020-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9240568
• 关键词: Affect; Autoimmune Process; Award; Blood; Categories; Cell Line; Cells; Clinical; Collaborations; Communities; Consent; Contracts; DNA; Data; Data Collection; Defect; Deficiency Diseases; Diagnosis; Disease; Educational Materials; Enrollment; Etiology; Fostering; Foundations; Funding; Funding Opportunities; Genes; Goals; Grant; Human; Immune; Immune System Diseases; Immune system; Immunologic Deficiency Syndromes; Immunologics; Individual; Infant; Inflammatory; Information Dissemination; Investigation; Laboratories; Link; Marrow; Mission; National Institute of Allergy and Infectious Disease; Neonatal Screening; Observational Study; Online Systems; Pathway interactions; Patient Participation; Patient-Focused Outcomes; Patients; Physicians; Quality of life; Recruitment Activity; Registries; Research; Research Institute; Research Personnel; Resources; Scientist; Secure; Severe Combined Immunodeficiency; T-Lymphocyte; Training; Transplantation; U-Series Cooperative Agreements; United States; United States National Institutes of Health; Work; career; congenital immunodeficiency; data sharing; design; education access; experience; gene therapy; improved; innovation; international center; programs; public health relevance; repository; response; training opportunity

 DESCRIPTION (provided by applicant): The field of Primary Immune Deficiency Diseases PIDD continues to grow rapidly, with recognition of over 200 different disease-associated genes. To keep pace with these discoveries, the NIH has supported a number of mechanisms to accelerate and expand PIDD research, funding individual grants, contracts, and cooperative agreements. The NIAID has recognized that a number of additional resources are required to advance this work, including data collection, physician education, and access to rare resources and first proposed an RFA for this work in 2003. To answer this need, a group of experienced PIDD investigators formed the U. S. Immunodeficiency Network (USIDNET), in collaboration with the Immune Deficiency Foundation (IDF). This group was awarded the first contract, (2003-2010) and subsequently, as a competitive continuation the USIDNET was awarded a cooperative agreement for this work, receiving funds for 2010-2015. The present application is for the continuation of this work, under RFA-AI-13-054, "Resources to Assist Investigations in Primary Immunodeficiency Diseases". To continue and accelerate this momentum, the USIDNET investigators propose to carry forward this initiative, with innovative plans to extend and accelerate this work. The goals of USIDNET are to maintain, improve and extend the needed PIDD resources, including (1) Extend the scope, enrollment and utilization of the secure, web-based, consented USIDNET Registry of individuals with all forms of PIDD, to collect longitudinal data, develop additional PIDD-specific forms, support observational studies, stimulate research collaborations, engage the patient community directly and further define patient outcomes using Quality of Life indicators; (2) Maintain and expand a repository of cells and DNA to aid in the research of PIDD and find ways to make accessible other rare materials and (3) Provide intensive training and educational opportunities for dissemination of information about these diseases, and encourage collaborative PIDD research at all levels.

 描述（由申请人提供）：原发性免疫缺陷疾病PIDD领域继续快速增长，识别了200多种不同的疾病相关基因。为了跟上这些发现的步伐，NIH支持了许多机制来加速和扩大PIDD研究，为个人赠款、合同和合作协议提供资金。NIAID认识到需要大量额外资源来推进这项工作，包括数据收集、医生教育和获取稀有资源，并于2003年首次提出了这项工作的RFA。为了满足这一需求，一组有经验的PIDD调查人员组成了美国PIDD研究所。S.免疫缺陷网络（USIDNET），与免疫缺陷基金会（IDF）合作。该小组获得了第一份合同（2003-2010年），随后，作为竞争性的延续，USIDNET获得了这项工作的合作协议，获得了2010-2015年的资金。本申请是为了继续这项工作，根据RFA-AI-13-054，“协助原发性免疫缺陷病调查的资源”。为了继续并加速这一势头，USIDNET研究人员建议推进这一倡议，并制定创新计划来扩展和加速这项工作。USIDNET的目标是维护，改进和扩展所需的PIDD资源，包括（1）扩展安全，基于网络，同意的USIDNET登记处的范围，招募和使用所有形式的PIDD个人，收集纵向数据，开发额外的PIDD特定形式，支持观察性研究，刺激研究合作，让患者社区直接参与，并使用生活质量指标进一步定义患者结局;（2）维持和扩大细胞和DNA的储存库，以帮助PIDD的研究，并找到获得其他稀有材料的方法;（3）提供强化培训和教育机会，传播有关这些疾病的信息，并鼓励在各级开展PIDD合作研究。