26th Annual Fanconi Anemia Research Fund Scientific Symposium

第26届范可尼贫血研究基金年度科学研讨会

基本信息

批准号：
8786035
负责人：
EVA C GUINAN
金额：
$ 0.75万
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：
2014
资助国家：
美国
起止时间：
2014-09-01 至 2015-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8786035
关键词：
Acute Adult Fanconi Anemia Affect Age Aging Apoptosis Area BRCA2 gene Basic Science Biochemical Blood Blood Cells Breast Candidate Disease Gene Carcinogenesis Mechanism Cell Survival Cell physiology Cells Charge Clinical Clinical Sciences Clinical Trials Collaborations Complement Complex Cues DNA Damage DNA Repair Defect Development Disease Dysmyelopoietic Syndromes Employee Strikes Environmental Carcinogens Epigenetic Process Epithelial Erythroid Progenitor Cells Evaluation Experimental Hematology Exposure to Failure Family Fanconi anemia protein Fanconi&apos s Anemia FarGo Fees Fostering Functional disorder Funding Gene Expression Gene Mutation Genes Genetic Genome engineering Head and neck structure Hematopoietic Hematopoietic Neoplasms Hematopoietic Stem Cell Transplantation Hereditary Disease Human Papillomavirus Human Resources Hypersensitivity Immune response In Vitro Incidence Inflammatory Interdisciplinary Study International Ionizing radiation Laboratory Diagnosis Lung Malignant Neoplasms Marrow Maryland Medicine Metabolism Modeling Molecular Monoubiquitination Mutation Myelogenous Myeloid Leukemia Oral Ovary Oxidative Stress Pancytopenia Participant Pathogenesis Pathology Pathway interactions Patients Pharmaceutical Preparations Physicians Population Production Protein Binding Radiation Radiation Tolerance Rare Diseases Regulation Relative Risks Reporting Research Research Personnel Research Project Grants Research Proposals Risk Science Signal Pathway Signaling Molecule Site Solid Neoplasm Somatic Cell Squamous cell carcinoma Stem cell transplant Stem cells Stress Texas Therapeutic Travel Tumor Suppression abstracting base biological adaptation to stress cancer genomics carcinogenesis chemotherapeutic agent clinical Diagnosis cost crosslink cytokine design extracellular gene therapy graduate student in vivo insight interest leukemogenesis meetings neoplastic cell novel therapeutics posters protein structure function public health relevance response screening senescence small molecule stem cell differentiation symposium translational study

项目摘要

DESCRIPTION (provided by applicant): Fanconi anemia (FA) is a rare hereditary disease characterized by bone marrow failure (BMF), developmental anomalies, cellular hypersensitivity to cross-linking agents and a high incidence of malignancy including myelodysplasia, acute non-lymphocytic leukemia, and solid tumors. Unique features of FA are the nearly universal development of BMF and a high relative risk of developing, at an early age, specific epithelial and hematopoietic malignancies usually found only in aging populations. Evaluation of adult FA patients reveals a striking incidence of squamous cell carcinomas, especially of the head and neck and gynecological tract. Moreover, the genetic instability of the somatic cells in the FA patient means that exposure to ionizing radiation; environmental carcinogens and chemotherapeutic agents pose unique risks to the patient. The specific biochemical functions of the FA proteins are largely unknown, but many form complexes with each other and in one canonical "pathway," 8 of the 16 known FA proteins bind together in a complex that facilitates the monoubiquitination of FANCD2. In vitro and in vivo evidence suggests that at least some of the FA proteins promote survival signaling pathways in hematopoietic cells by forming complexes with signaling molecules. Broad evidence is being developed that dysfunction of the FA signaling pathways can result in somatic changes (epigenetic and genetic) in neoplastic cells arising in FA patients and that FA protein dysfunction can be acquired by several mechanisms in non-Fanconi patients. Treatment options for the multiple pathologies of FA remain limited. Hematopoietic stem cell transplantation remains the treatment of choice for eligible patients with bone marrow failure. However, this disease is an ideal candidate for gene therapy because of the inherent selectability of complemented stem cells. Novel therapeutic options are needed to treat the other FA-related pathologies, including squamous cell carcinomas, particularly as the patients cannot tolerate conventional radiation and chemotherapeutic approaches to malignancy. The 26th Annual Fanconi Anemia Research Fund Scientific Symposium will be held in Bethesda, Maryland, September 18-21, 2014. Approximately 200 researchers and clinicians are expected to participate in the three-day conference comprised of invited keynote and/or special session presenters and approximately 45 oral abstract presentations in a single-track format, interspersed with one or two panel presentations designed for greater interactivity. Approximately 60 additional abstracts may be selected for poster presentations. The Symposium brings together an international assemblage of leading researchers and physicians as well as young investigators to discuss basic science, translational, and clinical aspects of this rare disease. Extended poster session receptions and on-site meals foster ongoing discussion. The meeting provides a unique opportunity for investigators to cross-fertilize and develop interdisciplinary research projects, as evidenced by subsequent research proposals received for the Fund's consideration. No registration fee is charged. Travel expenses are reimbursed for oral abstract presenters, key-note speakers and special session participants. Limited travel support is available upon request for poster presenters who would otherwise be unable to attend. This application seeks support for travel costs for speakers, key personnel, and young investigators to attend this important conference.

描述（由申请人提供）： Fanconi贫血（FA）是一种罕见的遗传性疾病，其特征是骨髓衰竭（BMF），发育异常，对交联药的细胞超敏反应以及包括骨髓增生的高发病率，包括骨髓增生，包括急性非淋巴细胞性白血病和固体瘤。 FA的独特特征是BMF的几乎普遍发展，并且在很小的时候就有很高的相对风险，即通常仅在衰老人群中发现的特定上皮和造血恶性肿瘤。对成年FA患者的评估显示，鳞状细胞癌的发生率显着，尤其是头颈和妇科界。此外，FA患者中体细胞的遗传不稳定意味着暴露于电离辐射。环境致癌物和化学治疗剂对患者构成独特的风险。 FA蛋白的特异性生化功能在很大程度上是未知的，但是许多彼此形成复合物，并且在一个规范的“途径”中，16个已知的FA蛋白中的8个结合在一起，以促进FANCD2的单样泛滥的复合物结合在一起。体外和体内证据表明，至少一些FA蛋白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。广泛的证据表明，FA信号通路的功能障碍会导致FA患者引起的肿瘤细胞的躯体变化（表观遗传和遗传），并且FA蛋白功能障碍可以通过非癌症患者的几种机制获取。 FA多种病理的治疗选择仍然有限。造血干细胞移植仍然是符合条件的骨髓衰竭患者的选择治疗。然而，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。需要新的治疗选择来治疗其他与FA相关的病理，包括鳞状细胞癌，特别是因为患者无法忍受常规辐射和化学治疗方法的恶性肿瘤。 2014年9月18日至21日，第26届年度Fanconi贫血研究基金科学研讨会将于马里兰州贝塞斯达举行。预计约有200名研究人员和临床医生参加由受邀的Keynote和/或特殊会议演讲者和/或特别会议的演讲者和/或特殊会议的演讲者和特殊会议的会议。大约有45个单轨格式的口头抽象演示，并散布在一个或两个面板演示中，旨在更大的交互性。可能会选择大约60个其他摘要以进行海报演示。该研讨会汇集了主要研究人员和医生的国际集会以及年轻的研究人员，讨论这种罕见疾病的基础科学，翻译和临床方面。扩展的海报会议招待会和现场餐点促进了正在进行的讨论。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，这是随后收到的研究提案所证明的。不收取注册费。向口头抽象演示者，键盘演讲者和特别会议参与者偿还旅行费用。有限的旅行支持可应要求提供否则将无法参加的海报主持人。该申请为演讲者，关键人员和年轻调查人员参加这次重要会议的差旅费提供了支持。