SECOND INTERNATIONAL SYMPOSIUM ON THE MARFAN SYNDROME

在此应用程序中，我们主要寻求阻止旅行支持 专门研究马凡综合征的国际科学会议。这 在许多方面，条件是一种典型的遗传性疾病 结缔组织(HDCT)。这是最早出现的综合征之一。 1914年，根据间充质的普遍缺陷和 第一个被归类为HDCT的，由McKusick于1955年提出。为了过去 30年来，马凡综合征在 医学因为导致早逝的戏剧性事件--急性 主动脉夹层和严重的瓣膜返流。最近的死亡事件 来自主动脉夹层的著名运动员，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 1991年7月马凡综合征基因的发现已有很大进展 普通人对这种情况的认识和关注，健康 专业人士和科学家。大量的临床和基础知识 过去5年发生的调查从来没有 在公开论坛上展示，来自不同背景的调查人员 不同的观点可以相互学习。临床科学家有一种 显然需要了解原因，尤其是与改进有关的原因 对发病机制的诊断和理解。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，以洞察潜在的生化和DNA缺陷 和遗传异质性。因此，这次会议的目标是带来 与许多领先的国际和北美 结缔组织研究的研究者越多越好。具体目标 这项会议赠款申请的目的是提供组织和 将几名关键调查人员带到会议所需的旅费 并向12名初级调查员提供有竞争力的津贴 (研究生、博士后研究员)否则不能 来参加。

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.