Twenty-first Annual Fanconi Anemia Research Fund Scientific Symposium

第二十一届年度范可尼贫血研究基金科学研讨会

基本信息

项目摘要

DESCRIPTION (provided by applicant): Twenty-first Annual Fanconi Anemia Research Fund Scientific Symposium. Fanconi anemia (FA) is a rare hereditary disease characterized by bone marrow failure, developmental anomalies, a high incidence of myelodysplasia (MDS), acute non-lymphocytic leukemia (AML), solid tumors, and cellular hypersensitivity to cross-linking agents. A unique feature of Fanconi anemia is the development, in early life, of specific epithelial and hematopoietic malignancies usually found only in aging populations. 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 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. Survivors of bone marrow failure ultimately face an extremely high risk of developing squamous cell cancers. The disease is an ideal candidate for gene therapy because of the inherent selectability of complemented stem cells. Broad evidence is being developed that dysfunction of the FA signaling pathways can develop as somatic changes (epigenetic and genetic) in neoplastic cells arising in non-Fanconi patients and that the consequences of such somatic changes suppress self-replicative potential and enhance senescence in progenitor cell pools. The Annual Fanconi Anemia Research Fund Scientific Symposium brings together investigators from around the world to discuss all basic, translational, and clinical research aspects of this rare disease. The meeting provides a unique opportunity for investigators to cross-fertilize and to develop interdisciplinary research projects. Not only will the data be shared freely with all investigators, the files will be made accessible through GeneSifter, an online bio-information tool. This application seeks partial support for this meeting, scheduled to be held in Baltimore, Maryland in October 2009. PUBLIC HEALTH RELEVANCE: Twenty-first Annual Fanconi Anemia Research Fund Scientific Symposium. The Fanconi Anemia Research Fund's Annual Symposia are the only scientific conferences convened that focus on Fanconi anemia (FA). Recent research has established the importance of Fanconi anemia genes in tumor suppression, DNA repair, stem cell function, and suppression of apoptosis and senescence; thus, advances made in FA science have an impact beyond affected patients and families. Acquired abnormalities of FA genes and FA gene expression have been reported in patients with sporadic malignancies of plasma cells, leukemia, head and neck cancer, lung cancer, and ovarian cancer.
描述(由申请人提供):第二十一届年度范科尼贫血研究基金科学研讨会。 范可尼贫血(FA)是一种罕见的遗传性疾病,其特征是骨髓衰竭、发育异常、骨髓增生异常(MDS)、急性非淋巴细胞白血病(AML)、实体瘤和对交联剂的细胞超敏反应。范可尼贫血的一个独特特征是在生命早期发生通常仅在老年人群中发现的特定上皮和造血恶性肿瘤。这些蛋白质的功能在很大程度上是未知的,但许多蛋白质彼此形成复合物,在一个典型的“途径”中,11种已知的范可尼贫血蛋白中的8种结合在一起形成复合物,并与一种不在“核心”复合物中的蛋白质FANCD 2结合。有体外和体内证据表明,至少一些FA蛋白也通过与信号分子形成复合物来促进造血细胞中的存活信号通路。干细胞移植是符合条件的骨髓衰竭患者的治疗选择。骨髓衰竭的幸存者最终面临着极高的发展鳞状细胞癌的风险。这种疾病是一个理想的候选基因治疗,因为固有的选择性补充干细胞。正在开发的广泛证据表明,FA信号通路的功能障碍可以发展为非范科尼患者中产生的肿瘤细胞中的体细胞变化(表观遗传和遗传),并且这种体细胞变化的后果抑制了自我复制潜力并增强了祖细胞池的衰老。 年度范科尼贫血研究基金科学研讨会汇集了来自世界各地的研究人员,讨论这种罕见疾病的所有基础,转化和临床研究方面。会议为研究人员提供了一个独特的机会,以交叉施肥和开发跨学科的研究项目。这些数据不仅将与所有研究人员免费共享,而且还将通过在线生物信息工具GeneSifter访问这些文件。本申请寻求对定于2009年10月在马里兰州巴尔的摩举行的这次会议的部分支持。 公共卫生相关性:第二十一届范科尼贫血研究基金科学研讨会。范可尼贫血研究基金的年度研讨会是唯一一个专注于范可尼贫血(FA)的科学会议。最近的研究已经确定了范可尼贫血基因在肿瘤抑制,DNA修复,干细胞功能以及抑制细胞凋亡和衰老中的重要性;因此,FA科学的进展对受影响的患者和家庭产生了影响。在散发性恶性肿瘤如浆细胞癌、白血病、头颈癌、肺癌和卵巢癌患者中已报道了获得性FA基因和FA基因表达异常。

项目成果

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Grover Carlton Bagby其他文献

Grover Carlton Bagby的其他文献

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{{ truncateString('Grover Carlton Bagby', 18)}}的其他基金

24th Annual Fanconi Anemia Research Fund Scientific Symposium
第24届年度范可尼贫血研究基金科学研讨会
  • 批准号:
    8398885
  • 财政年份:
    2012
  • 资助金额:
    $ 5万
  • 项目类别:
23rd Annual Fanconi Anemia Research Fund Scientific Symposium
第23届年度范可尼贫血研究基金科学研讨会
  • 批准号:
    8205078
  • 财政年份:
    2011
  • 资助金额:
    $ 5万
  • 项目类别:
Fanconi Anemia: Molecular pathogenesis of Bone Marrow Failure and Clonal Evolutio
范可尼贫血:骨髓衰竭和克隆进化的分子发病机制
  • 批准号:
    8255538
  • 财政年份:
    2011
  • 资助金额:
    $ 5万
  • 项目类别:
Fanconi Anemia: Molecular pathogenesis of Bone Marrow Failure and Clonal Evolutio
范可尼贫血:骨髓衰竭和克隆进化的分子发病机制
  • 批准号:
    7918661
  • 财政年份:
    2010
  • 资助金额:
    $ 5万
  • 项目类别:
Twenty-second Annual Fanconi Anemia Research Fund Scientific Symposium
第二十二届范可尼贫血研究基金年度科学研讨会
  • 批准号:
    8062909
  • 财政年份:
    2010
  • 资助金额:
    $ 5万
  • 项目类别:
Fanconi Anemia stem cells allow molecular characterization of acute leukemia
范可尼贫血干细胞可对急性白血病进行分子表征
  • 批准号:
    8118792
  • 财政年份:
    2008
  • 资助金额:
    $ 5万
  • 项目类别:
Fanconi Anemia stem cells allow molecular characterization of acute leukemia
范可尼贫血干细胞可对急性白血病进行分子表征
  • 批准号:
    8302374
  • 财政年份:
    2008
  • 资助金额:
    $ 5万
  • 项目类别:
Fanconi Anemia stem cells allow molecular characterization of acute leukemia
范可尼贫血干细胞可对急性白血病进行分子表征
  • 批准号:
    7692961
  • 财政年份:
    2008
  • 资助金额:
    $ 5万
  • 项目类别:
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
  • 财政年份:
    2006
  • 资助金额:
    $ 5万
  • 项目类别:
CORE--Cancer Pathology
核心--癌症病理学
  • 批准号:
    7107613
  • 财政年份:
    2005
  • 资助金额:
    $ 5万
  • 项目类别:

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