Sixth International Marfan Syndrome Symposium

描述(申请人提供)：第六例国际马凡综合征 研讨会将于2001年8月11日至14日在华盛顿州西雅图举行。这次会议 将把代表最先进研究的研究人员聚集在一起 旨在确定马凡氏综合症的潜在基础， 纤维蛋白基因及其相互作用伙伴的基础生物学 确定其他矩阵成分对 弹性纤维网络的构建，通过它的机制 突变被转化为表型发现，基因座的问题 异质性及其与其他由以下原因引起的疾病的关系 相关基因的突变，疾病的自然病史， 通过内科或外科干预的自然病史，以及 对这些基因的分析有助于临床决策。这次会议的主题是 研讨会的主题是“当前发病机制研究中的争议和 马凡综合症及相关疾病的治疗“。这些问题将是 在五次科学会议上进行了检查，每次大约3至3.5小时。这个 第一个会议将致力于研究基因型与表型的关系， 分子诊断的作用以及突变对纤维蛋白的影响 蛋白质。第二项研究将研究细胞生物学中的纤维蛋白的功能。 蛋白质，它们的加工和纤维形成，以及与 矩阵的其他组件，以及这些过程中的缺陷如何导致 马凡和其他表型。第三部分将研究组织 组织，非马凡表型中的纤维蛋白托尔，以及其他 可能与某些马凡表型相似的疾病。第四个将是 致力于医学治疗中的问题，包括P受体阻滞剂、钙离子的使用 通道阻滞剂，和基质降解的抑制剂，以减缓 主动脉增大，过早死亡的主要危险因素。第五个遗嘱 检查心脏手术和晶状体脱位手术的相关问题。 这些问题包括在主动脉足部使用“保留瓣膜”手术。 置换，主动脉手术的时机，以及晶状体摘除在 视力障碍的治疗。这将是第一次重要的聚会 调查人员将在三年内与国家 马凡基金会年会。预计将有125名参与者 激励未来几年的研究努力。

DESCRIPTION (provided by applicant): The Sixth International Marfan Syndrome Symposium will be held in Seattle, WA from August 11 -14, 2001. This meeting will bring together investigators who represent the most advanced research directed toward determining the underlying basis of Marfan Syndrome, the fundamental biology of the fibrillin genes and their interacting partners, the identification of other matrix components that are important for the construction of the elastic fiber network, the mechanisms by which the mutations are translated into the phenotypic findings, the issues of locus heterogeneity and the relationship to other disorders that result from mutations in related genes, the natural history of the disorder, the change in natural history by medical or surgical intervention, and the manner in which analysis of these genes assist in clinical decision making. The theme of the Symposium will be "Current Controversies in Research in Pathogenesis and Treatment of Marfan Syndrome and Related Disorders". These issues will be examined in five scientific sessions of approximately 3 to 3.5 hours each. The first session will be devoted to the relationship of genotype to phenotype, the role of molecular diagnostics, and the effect of mutations on the fibrillin proteins. The second will examine the function of fibrillitts, the cell biology of the proteins, their processing and fibrillogenesis, and interaction with other components of the matrix, and how defects in these processes lead to Marfan and other phenotypes. The third will examine the organization of tissues, the tole of fibrillins in non-Marfan phenotypes, and of other disorders that may mimic some of the Marfan phenotypes. The fourth will be devoted to issues in medical therapy, including the use of P-blockers, calcium channel blockers, and inhibitors of matrix degradation to slow the rate of aortic enlargement, the major risk factor for premature death. The fifth will examine issues surrounding cardiac surgery and surgery for lens dislocation. These issues include the use of "valve-sparing" surgery in aortic foot replacement, the timing of aortic surgery, and the role of lens removal for treatment of visual disturbance. This will be the first major gathering of investigators in three years and will be held in conjunction with the National Marfan Foundation annual meeting. The expected 125 participants should galvanize research efforts for the next years.