Eighteenth Annual Fanconi Anemia Research Symposium

第十八届年度范可尼贫血研究研讨会

• 批准号: 7223443
• 负责人: Grover Carlton Bagby
• 金额: $ 2万
• 依托单位: FANCONI ANEMIA RESEARCH FUND, INC.
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-09-30 至 2007-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7223443
• 关键词: bioinformatics; congenital aplastic anemia; congenital blood disorder; genetic disorder; meeting /conference /symposium; travel

DESCRIPTION (provided by applicant): Fanconi anemia is a rare hereditary disease characterized by bone marrow failure, developmental anomalies, a high incidence of myelodysplasia (MDS), acute non-lymphocytic leukemia (AML), and solid tumors, and cellular hypersensitivity to cross-linking agents. The function of the proteins is largely unknown but many form complexes with each other and in one canonical "pathway" eight of the eleven known Fanconi anemia (FA) proteins bind together in a complex and monoubiquitinate FANCD2, one of the proteins not in the core complex. There is in vitro and in vivo evidence that at least some of the FA proteins also promote survival signaling pathways in hematopoietic cells by forming complexes with signaling molecules. Stem cell transplantation is the treatment of choice for eligible patients with bone marrow failure and squamous cell cancers develop in many of the survivors of bone marrow failure. The disease is an ideal candidate (because of the inherent selectability of complemented stem cells) for gene therapy. Broad evidence is being developed as well that dysfunction of the FA signaling pathways can develop as somatic changes (epigenetic and genetic) in neoplastic cells arising in non-Fanconi patients. Each year the Fanconi Anemia Research fund provides grant support for investigators, family support, family retreats, special consensus conferences, and a well-attended international Fanconi anemia research symposium. This annual symposium brings together investigators from around the world to discuss all basic, translational, and clinical research aspects of this disease. The meeting provides a unique opportunity for investigators to cross-fertilize and to develop interdisciplinary research projects. One nearing completion, funded initially by the FA Research Fund and subsequently through the NHLBI Microarray Center grant support, is the International Fanconi Anemia Transcriptome Consortium, final results of which will be presented at the October 2006 meeting. Not only will the data be shared freely with all investigators, the files will be made accessible to anyone through GeneSifter, an online bioinformatics tool that can be used from on-line analysis. This application seeks partial support for this meeting, scheduled to be held in Bethesda in October 2006.

描述（由申请人提供）： 范可尼贫血是一种罕见的遗传性疾病，其特征为骨髓衰竭、发育异常、骨髓增生异常 (MDS)、急性非淋巴细胞白血病 (AML) 和实体瘤的高发率，以及细胞对交联剂过敏。这些蛋白质的功能很大程度上未知，但许多蛋白质彼此形成复合物，并且在一个规范的“途径”中，11 种已知的范可尼贫血 (FA) 蛋白质中的 8 种以复合物和单泛素 FANCD2 形式结合在一起，FANCD2 是不在核心中的蛋白质之一复杂的。 体外和体内证据表明，至少一些 FA 蛋白还通过与信号分子形成复合物来促进造血细胞中的生存信号通路。 干细胞移植是符合条件的骨髓衰竭患者的首选治疗方法，许多骨髓衰竭的幸存者都患有鳞状细胞癌。 该疾病是基因治疗的理想候选者（因为补充干细胞固有的选择性）。广泛的证据表明，FA 信号通路的功能障碍可能会随着非 Fanconi 患者肿瘤细胞的体细胞变化（表观遗传和遗传）而发展。范可尼贫血研究基金每年都会为研究人员提供赠款支持、家庭支持、家庭务虚会、特别共识会议以及参加人数众多的国际范可尼贫血研究研讨会。这次年度研讨会汇集了来自世界各地的研究人员，讨论该疾病的所有基础、转化和临床研究方面。这次会议为研究人员提供了一个独特的机会，可以相互促进并开发跨学科研究项目。国际范可尼贫血转录组联盟 (International Fanconi Anemia Transcriptome Consortium) 最初由 FA 研究基金资助，随后得到 NHLBI 微阵列中心的拨款支持，该项目即将完成，其最终结果将在 2006 年 10 月的会议上公布。这些数据不仅可以与所有研究人员自由共享，而且任何人都可以通过 GeneSifter（一种可用于在线分析的在线生物信息学工具）访问这些文件。本申请寻求对定于 2006 年 10 月在贝塞斯达举行的这次会议的部分支持。