Laboratory Diagnosis and Immunologic Characterization of Heritable Immune Disorde

遗传性免疫性疾病的实验室诊断和免疫学特征

• 批准号: 7613790
• 负责人: Alexandra H Filipovich
• 金额: $ 0.3万
• 依托单位: CINCINNATI CHILDRENS HOSP MED CTR
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-11-01 至 2009-10-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7613790
• 关键词: Adult; Affect; American; Arts; Canada; Categories; Cell Transplantation; Child; Clinical; Clinical Medicine; Consensus; Development; Diagnosis; Diagnostic; Disease; Electronics; Europe; Faculty; Funding; Genetic screening method; Healthcare Systems; Hematopoietic; Immune; Immune System Diseases; Immunologic Deficiency Syndromes; Immunologics; Individual; Journals; Knowledge; Laboratories; Laboratory Diagnosis; Laboratory Scientists; Latin America; Natural History; North America; Outcome; Pan Genus; Participant; Patients; Peer Review; Preparation; Publishing; Resource Sharing; Resources; Scientist; Senior Scientist; Source; Testing; Travel; Videotape; base; cost; cost effective; improved; interest; member; next generation; symposium; tool; working group

DESCRIPTION (provided by applicant): Laboratory Diagnosis and Immunologic Characterization of Heritable Immune Disorders - a Pan American Consensus Conference: Sharing Resources, Sharing Knowledge This is planned as a 2 day interactive conference to be held November 8 and 9, 2008. Major academic centers with strengths in diagnosis and treatment of heritable immunodeficiencies (often termed Primary Immunodeficiency Disorders, or PIDDs) will be represented. If funding permits, at least two individuals from each North American center will be invited: e.g. a senior scientist and a junior faculty member, or a clinician and a laboratory scientist: e.g. an "expert" and a next generation "expert". All academic participants including members of working groups, moderators and speakers will be invited and their travel expenses will be provided. The majority of participants will be from U.S. and Canada, with a handful of invitees from Latin America and Europe if funding from non-NIH sources permits. A few scientists representing relevant corporate organizations in the U.S. may attend at their own expense. Topics to be discussed will cover : 1) an overview of clinical laboratory based testing, including genetic testing, available in North America for PIDDs, 2) review of existing and emerging rapid and cost effective strategies for definitive diagnosis of PIDDs, 3) identification of new and emerging diagnostic tools and how to move them into clinical medicine 4) development of paradigms for accurate diagnosis and management of different categories of PIDDs, 5) optimization of (existing) networks of professionals with an interest in PIDDs. Conference proceedings, including discussion, will be videotaped to assist preparation of consensus documents. We plan to publish these in peer-reviewed journals, and have initiated discussions to that end. Furthermore, if practical and affordable, an electronic compendium of resources for diagnosis of PIDD in North America, will be developed and regularly curated, perhaps under the auspices of PAGID (Pan American Group for Immunodeficiencies). The more than 100 primary immunodeficiency disorders (PIDDs), while individually rare, as a group represent a significant burden on the health care system due to the complexity and cost of managing children and adults with such disorders. It is also clear that there are many individuals affected by so-called emerging PIDDs for which robust diagnostic tools are not yet widely available, and the natural history is poorly understood. Most of the PIDDs are prematurely lethal and a significant number can only be "cured" by hematopoietic cell transplantation. Since better outcomes with all treatments hinge on early and correct diagnoses, access to state of the art laboratory tools and the best "expert" interpretation of results is central to improving outcomes for patients with PIDDs.

描述（由申请人提供）：遗传性免疫疾病的实验室诊断和免疫学表征-泛美共识会议：共享资源，共享知识这是一个为期2天的互动会议，将于2008年11月8日和9日举行。在遗传性免疫缺陷（通常称为原发性免疫缺陷疾病或PIDDs）的诊断和治疗方面具有优势的主要学术中心将派代表参加。如果资金允许，每个北美中心将邀请至少两名个人：例如一名高级科学家和一名初级教员，或一名临床医生和一名实验室科学家：例如一名“专家”和一名下一代“专家”。将邀请包括工作组成员、主持人和发言人在内的所有学术与会者参加，并提供差旅费。大多数参与者将来自美国和加拿大，如果非NIH来源的资金允许，少数受邀者将来自拉丁美洲和欧洲。代表美国相关企业组织的一些科学家可以自费参加。讨论的主题将包括：1）在北美可用于PIDDs的基于临床实验室的测试的概述，包括基因测试，2）用于PIDDs的确定性诊断的现有和新兴的快速和成本有效的策略的综述，3）识别新的和新兴的诊断工具，以及如何将其应用于临床医学4）开发用于精确诊断和管理不同类别的PIDD的范例，5）优化对PIDD感兴趣的（现有）专业人员网络。将对会议过程，包括讨论情况进行录像，以协助编写协商一致文件。我们计划在同行评审的期刊上发表这些论文，并为此展开了讨论。此外，如果可行和负担得起，将开发和定期管理一个用于诊断北美PIDD的电子资源汇编，可能在PAGID（泛美免疫缺陷小组）的主持下。超过100种原发性免疫缺陷疾病（PIDDs），虽然个别罕见，但作为一个群体，由于管理患有此类疾病的儿童和成人的复杂性和成本，对卫生保健系统构成了重大负担。同样清楚的是，有许多人受到所谓的新兴PIDDs的影响，对于这些PIDDs，强大的诊断工具尚未广泛使用，并且对自然史了解甚少。大多数PIDD是过早致死的，并且相当数量的PIDD只能通过造血细胞移植来“治愈”。由于所有治疗的更好结果取决于早期和正确的诊断，因此获得最先进的实验室工具和最好的“专家”结果解释对于改善PIDDs患者的结果至关重要。