SECOND INTERNATIONAL SYMPOSIUM ON THE MARFAN SYNDROME

在这个应用程序中，我们主要寻求集团旅行支持， 马凡氏综合症国际科学会议。 这 在许多方面，这种情况是一种典型的遗传性疾病， 结缔组织（HDCT）。 这是最早的综合症之一， 1914年，他解释说，在间充质中存在广泛的缺陷， 第一个被归类为HDCT，由McKusick在1955年。 过去 30年来，马凡氏综合征在美国有相对较高的知名度， 因为戏剧性的事件会导致早期死亡--急性的 主动脉夹层和严重瓣膜返流。 最近的死亡事件 著名运动员从主动脉夹层，教育活动的 国家马凡基金会，国家对研究的支持 关节炎、肌肉骨骼和皮肤病研究所，以及 1991年7月马凡氏综合征基因的发现， 非专业人员对这种情况的认识和关注， 专业人士和科学家。 大量的临床和基础 过去5年来的调查从未 在一个公开论坛上，来自不同背景的调查人员 and perspectives观点could learn学习from each每other. 临床科学家有一个 显然需要了解原因，特别是与改善有关的原因。 诊断和了解发病机制。 基础科学家受益于 学习表型，变量表达，自然历史和形式 遗传学，以了解潜在的生化和DNA缺陷 和遗传异质性。 因此，本次会议的目标是， 与许多国际和北美领先的 尽可能多地参与结缔组织研究。 具体目标 本次会议补助金申请是提供组织和 几名主要调查员出席会议所需的差旅费 并通过竞争向12名初级调查员提供津贴 （研究生、博士后） 参加.

In this application we seek primarily bloc travel support for an international scientific conference devoted to the Marfan syndrome. This condition is, in many ways, one of the prototypic heritable disorders of connective tissue (HDCT). It was one of the first syndromes to be interpreted, in 1914, in terms of a generalized defect in mesenchyme and the first to be categorized as a HDCT, by McKusick in 1955. For the past 3 decades, the Marfan syndrome has had relatively high visibility in medicine because of the dramatic events that lead to early death--acute aortic dissection and severe valvular regurgitation. The recent deaths of famous athletes from aortic dissection, the educational activities of the National Marfan Foundation, the support given to research by the National Institute of Arthritis, Musculoskeletal and Skin Diseases, and the discovery of the gene for Marfan syndrome in July, 1991 have heightened awareness and concern about this condition among laypeople, health professionals and scientists. The large amount of clinical and basic investigation that has occurred in the past 5 years has never been presented in an open forum at which investigators with diverse backgrounds and perspectives could learn from each other. Clinical scientists have an obvious need to know about cause, especially as relates to improved diagnosis and understanding of pathogenesis. Basic scientists benefit from learning about phenotype, variable expression, natural history, and formal genetics in order to gain insight to potential biochemical and DNA defects and genetic heterogeneity. Thus, the goal of this conference is to bring together as many of the leading international and North American investigators in connective tissue research as possible. The specific aims of this conference grant application are to provide the organizational and travel funds necessary to bring several key investigators to the conference and to provide competitively awarded stipends to 12 junior investigators (graduate students, postdoctoral fellows) who otherwise would not be able to attend.