Translational Opportunities for the Heritable Disorders of Connective Tissue

描述(由申请人提供)：拟于2011年7月10日至14日在美国俄勒冈州波特兰市举行的“结缔组织遗传性疾病的翻译机会”会议。这次会议将满足一个迫切的需求，因为上一次关于结缔组织遗传性疾病的会议是在十多年前举行的。发表了2000年最后一次会议的结果和建议摘要(Sakai，LY，Byers，PH和Ramirez，F.Matrix Biology 21：7-13,2002PMID：11827787)。与上一次会议一样，拟议的会议将包括这一领域的所有主题的介绍--从识别新的疾病基因到参与疾病发病机制的独特结缔组织途径。然而，由于在过去十年中取得了巨大的进步，拟议中的会议将侧重于结缔组织遗传性疾病的新疗法的前景。会议的具体目的是(1)分享结果、讨论和批判性地评估新疗法；(2)确定新的分子或细胞机制作为未来疗法的有希望的目标；(3)确定当前将基本机制知识转化为新疗法的机会。此外，会议还将促进研究人员之间的新合作，并将促进年轻科学家的研究兴趣。与以往一样，会议组织者将编写并出版一份会议记录和建议的报告。这次会议将在全国马凡基金会年会之前举行，该年会也将在俄勒冈州波特兰举行。马凡综合征是第一个被McKusick描述为“结缔组织遗传性疾病”的遗传性疾病。今天，国家马凡基金会继续在遗传性结缔组织疾病联盟中发挥主导作用。该联盟的其他成员包括成骨不完美基金会、弹性假黄瘤国际(PXE)、美国营养不良大疱性表皮松解症研究协会(DEBRA)、埃勒斯-丹洛斯国家基金会、美国小人基金会和洛伊斯-迪兹综合征基金会。将介绍与联盟中代表的每一种疾病有关的研究；将评估进展情况，并就未来方向提出建议。会议的总体目标将是促进将新的基本信息转化为治疗结缔组织遗传性疾病的新疗法。我们预计，会议上的讨论以及我们对会议记录的总结和对未来方向的建议将有助于指导这一领域的研究，并将有助于在结缔组织遗传性疾病的转化医学方面取得更快的进展。 公共卫生相关性：这项申请是为了支持一次关于“结缔组织遗传性疾病的翻译机会”的特别会议。会议的目标是批判性地评估为这些独特的疾病开发新疗法的最新进展，确定未来疗法的有希望的目标，鼓励新的合作，并促进可以取得快速进展的领域。将发表进展和建议的摘要。

DESCRIPTION (provided by applicant): The proposed meeting on "Translational Opportunities for the Heritable Disorders of Connective Tissue" is scheduled for July 10-14, 2011, in Portland, OR. This meeting will fill a critical need, since the last meeting on heritable disorders of connective tissue was held more than a decade ago. A summary of the results and recommendations from the last meeting in 2000 was published (Sakai, LY, Byers, PH, and Ramirez, F. Matrix Biology 21:7-13, 2002 PMID:11827787). As in the previous meeting, the proposed meeting will include presentations that span the full range of topics in this area-from the identification of new disease genes to the unique connective tissue pathways that are involved in disease pathogenesis. However, due to the tremendous progress in the last decade, the proposed meeting will focus on prospects for new therapies for heritable disorders of connective tissue. The specific aims of the meeting are (1) to share results, discuss, and critically assess novel therapies; (2) to identify novel molecular or cellular mechanisms as promising targets for future therapies; (3) to define current opportunities for translating knowledge of basic mechanisms into new therapies. In addition, the meeting will stimulate new collaborations between investigators and will promote the research interests of young scientists. As in the past, a report of the meeting proceedings and recommendations will be prepared and published by the meeting organizers. The meeting will precede the Annual Meeting of the National Marfan Foundation, which will also be held in Portland, OR. The Marfan Syndrome was the first genetic disorder to be described by McKusick as a "heritable disorder of connective tissue." Today the National Marfan Foundation continues to play a lead role in the Coalition of Heritable Disorders of Connective Tissue. Others in the Coalition include the Osteogenesis Imperfecta Foundation, Pseudoxanthoma Elasticum (PXE) International, Dystrophic Epidermolysis Bullosa Research Association of America (DebRA), the Ehlers-Danlos National Foundation, the Little People of America, and the Loeys-Dietz Syndrome Foundation. Research relevant to each of these disorders represented in the Coalition will be presented; progress will be assessed and recommendations for future directions will be made. The overall goal of the meeting will be to stimulate the translation of novel basic information into new therapies for the heritable disorders of connective tissue. We anticipate that discussions at the meeting as well as our summary of the proceedings and recommendations for future directions will help to guide research in this area and will contribute to more rapid advances in translational medicine for the heritable disorders of connective tissue. PUBLIC HEALTH RELEVANCE: This application is to support a special meeting on "Translational Opportunities for the Heritable Disorders of Connective Tissue." The goals of the meeting are to critically assess recent progress in developing novel therapies for these unique disorders, to identify promising targets for future therapies, to stimulate new collaborations, and to promote areas in which rapid advances can be made. A summary of progress and recommendations will be published.