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

批准号：
7803501
负责人：
Grover Carlton Bagby
金额：
$ 5万
依托单位：
FANCONI ANEMIA RESEARCH FUND, INC.
依托单位国家：
美国
项目类别：
财政年份：
2009
资助国家：
美国
起止时间：
2009-09-30 至 2010-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/7803501
关键词：
Acute Affect Age Animal Model Apoptosis Baltimore Candidate Disease Gene Carcinogenesis Mechanism Cell physiology Cells Clinical Clinical Management Clinical Research Collaborations Complement Complex Cues DNA Repair Data Development Disease Dysmyelopoietic Syndromes Epigenetic Process Epithelial Face Family Fanconi anemia protein Fanconi&apos s Anemia FarGo Fostering Functional disorder Funding Gene Expression Gene Expression Regulation Genes Genetic Genetic Heterogeneity Goals Head and Neck Cancer Hematopoietic Hematopoietic Neoplasms Hematopoietic Stem Cell Transplantation Hereditary Disease Hypersensitivity Immune response In Vitro Incidence Inflammatory Interdisciplinary Study Knowledge Laboratory Diagnosis Life Malignant Neoplasms Malignant Squamous Cell Neoplasm Malignant neoplasm of lung Malignant neoplasm of ovary Maryland Modeling Molecular Myeloid Leukemia Pancytopenia Participant Pathway interactions Patients Physicians Plasmacytic Leukemia Population Protein Binding Proteins Rare Diseases Reporting Research Research Personnel Research Project Grants Schedule Science Signal Pathway Signaling Molecule Solid Neoplasm Stem cell transplant Stem cells Survivors System Therapeutic Transplantation Tumor Suppression carcinogenesis crosslink extracellular forging gene therapy graduate student high risk in vivo leukemogenesis meetings neoplastic cell protein complex protein function public health relevance response senescence symposium tool

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21届年度Fanconi贫血研究基金科学研讨会。 Fanconi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，骨髓增生性发育不全（MDS）的高发病率，急性非淋巴细胞性白血病（AML），实体瘤和对交叉固定剂的细胞超敏性。 Fanconi贫血的一个独特特征是早期生活，特定上皮和造血恶性肿瘤的发展通常仅在衰老人群中。蛋白质的功能在很大程度上是未知的，但是许多彼此形成了复合物，并且在一个规范的“途径”中，其中八个已知的fanconi贫血蛋白蛋白中的八个在复合物和单液化的fancd2中结合在一起，这是“核心”，而不是“核心”中的一种。复杂的。有体外和体内证据表明，至少某些FA蛋白还通过用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选择治疗。骨髓衰竭的幸存者最终面临着出现鳞状细胞癌的极高风险。由于互补的干细胞的固有选择性，该疾病是基因治疗的理想候选者。广泛的证据表明，FA信号通路的功能障碍可以随着非癌症患者产生的肿瘤细胞的体细胞变化（表观遗传和遗传）的发展而发展，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细胞衰老的影响游泳池。一年一度的Fanconi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本，转化和临床研究方面。这次会议为调查人员提供了一个独特的机会，可以交叉利用和开发跨学科研究项目。数据不仅可以与所有调查人员自由共享，还可以通过在线生物信息工具Genesifter访问这些文件。该申请为计划于2009年10月在马里兰州巴尔的摩举行的这次会议寻求部分支持。公共卫生相关性：第21届年度Fanconi贫血研究基金科学研讨会。 Fanconi贫血研究基金的年度研讨会是唯一召集的科学会议，专注于Fanconi贫血（FA）。最近的研究确定了Fanconi贫血基因在肿瘤抑制，DNA修复，干细胞功能以及凋亡和衰老的抑制中的重要性。因此，FA科学的进步超出了受影响的患者和家庭的影响。在血浆细胞，白血病，头颈癌，肺癌和卵巢癌的零星恶性肿瘤患者中，已经报道了FA基因和FA基因表达的异常。