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

• 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
• 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' 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

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）： 范可尼贫血（FA）是一种罕见的遗传性疾病，其特征在于骨髓衰竭（BMF）、发育异常、细胞对交联剂的超敏反应和恶性肿瘤（包括骨髓增生异常、急性非淋巴细胞白血病和实体瘤）的高发病率。FA的独特特征是几乎普遍发生BMF，并且在早期发生特定上皮和造血恶性肿瘤的相对风险较高，这些恶性肿瘤通常仅见于老年人群。对成年FA患者的评估显示鳞状细胞癌的发病率很高，尤其是头颈部和妇科。此外，FA患者体细胞的遗传不稳定性意味着暴露于电离辐射、环境致癌物和化疗剂对患者构成独特的风险。FA蛋白的具体生化功能在很大程度上是未知的，但许多形成复合物彼此和在一个典型的“途径”，16个已知的FA蛋白中的8个结合在一起，促进FANCD 2的monoubiquitination的复合物。体外和体内证据表明，至少有一些FA蛋白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。广泛的证据表明，FA信号通路的功能障碍可导致FA患者肿瘤细胞的体细胞变化（表观遗传和遗传），FA蛋白功能障碍 在非Fanconi患者中可通过多种机制获得。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治疗选择。然而，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。需要新的治疗选择来治疗其他FA相关的病理，包括鳞状细胞癌，特别是当患者不能耐受常规的放射和化疗方法来治疗恶性肿瘤时。第26届年度范科尼贫血研究基金科学研讨会将于2014年9月18日至21日在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将参加为期三天的会议，包括受邀的主题演讲和/或特别会议演讲者，以及约45个单轨格式的口头摘要演讲，并穿插一两个旨在增强互动性的小组演讲。可选择大约60份额外摘要用于海报展示。研讨会汇集了国际领先的研究人员和医生以及年轻的研究人员，讨论这种罕见疾病的基础科学，转化和临床方面。延长海报会议招待会和现场用餐促进持续的讨论。这次会议为研究人员提供了一个独特的机会，使他们能够相互促进和制定跨学科研究项目，随后收到供基金审议的研究提案就是证明。不收取注册费。口头摘要介绍人、主旨发言人和特别会议与会者的旅费可报销。如果海报主持人提出要求，则无法出席会议，可提供有限的差旅支助。该申请寻求对演讲者、关键人员和年轻研究人员参加这一重要会议的差旅费的支持。