PXE 2004 Research Meeting

描述（由申请人提供）： 本基金申请要求对一个名为“PXE研究2004”的研讨会提供部分支持。会议将于2004年10月13日和14日在马里兰州贝塞斯达的Pooks Hill Marriott酒店举行，这是一家残疾人无障碍酒店。该会议由PXE国际组织协调和共同赞助，该组织是一个非营利基金会，成立于1995年，旨在推进弹性假黄瘤（PXE）的研究。本次研讨会将利用自1997年上次研究会议以来在对PXE遗传学和受PXE影响的结构组分的基本理解方面取得的重大进展。虽然这些进展是重要的，但它们突出了基本遗传和分子进展与这种疾病的发病机制之间缺乏联系。本次会议将回顾遗传学，细胞和分子生物学的进展，通过相关研究的知识和工具促进当前的研究，为全面的研究计划提供基础，并确定受PXE影响的个人的临床护理的最佳实践。研讨会的总体目标是为研究人员提供一个论坛，讨论转运蛋白生物学，代谢，遗传学和流行病学的相关进展，并为临床导向的同事和PXE国际共同规划未来的研究和翻译应用。观众预计将代表广泛的个人与不同的专业知识，包括执业临床医生照顾病人与PXE，医生，科学家和基础科学研究人员和外行领导人，所有人都有兴趣在PXE。本次研讨会的具体目的是提供一个论坛，为基础和临床科学之间的思想交叉施肥，这可能是无法实现在更一般的会议，这是必不可少的转化研究。来自皮肤病学、眼科学、胃肠病学和心脏病学学科的临床研究者的存在将允许对PXE及其许多全身效应进行广泛的讨论，告知基础科学以关注它，并相反地为数据收集和临床护理设定最佳实践标准。会议特别注意青年研究人员和受训人员的参与，并邀请代表性不足的社区的科学家和临床医生参加。

DESCRIPTION (provided by applicant): This grant application requests partial support for a Symposium, entitled "PXE Research 2004". The meeting will be held October 13 and 14, 2004 at the Pooks Hill Marriott, Bethesda, MD, a handicapped accessible hotel. The meeting is coordinated and co-sponsored by PXE International, a nonprofit foundation, established in 1995, to advance research on pseudoxanthoma elasticum (PXE). This symposium will capitalize on significant progress made in basic understanding of the genetics of PXE and the structural components affected by PXE since the last research meeting in 1997. Though these advances are significant, they have highlighted a lack of linkage between the basic genetic and molecular advances and the pathogenesis of this disease. This meeting will review progress in genetics, cellular and molecular biology, catalyze the current research through knowledge and tools of related research, provide the foundation for a comprehensive research plan and determine best practices for clinical care of individuals affected by PXE. The overall goal of the Symposium is to provide a forum for investigators to discuss relevant advances in transporter biology, metabolism, genetics, and epidemiology and for clinically oriented colleagues and PXE International to jointly plan for future research and translational applications. The audience is expected to represent a broad spectrum of individuals with varying expertise including practicing clinicians caring for patients with PXE, physician-scientists and basic science investigators and lay leaders, all of whom share an interest in PXE. The specific aim of this Symposium is to provide a forum for a cross-fertilization of ideas between the basic and clinical sciences that may not be achievable in more general meetings, and that is essential to translational research. The presence of clinical investigators from the disciplines of dermatology, ophthalmology, gastroenterology and cardiology will allow broad-based discussion of PXE with its many systemic effects, to inform the basic science to focus it, and conversely to set best practice standards for data collectiton and clinical care. Special attention is paid to the involvement of young investigators and trainees in this meeting, and involving both scientists and clincians from underrepresented communities.