PXE 2004 Research Meeting

描述(由申请人提供)： 这项赠款申请要求为题为“PXE研究2004”的研讨会提供部分资助。会议将于2004年10月13日和14日在马里兰州贝塞斯达的普克斯山万豪酒店举行，这是一家无障碍酒店。这次会议是由PXE国际协调和共同主办的，PXE国际是一个非营利性基金会，成立于1995年，旨在推进对弹性假黄瘤(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的遗传学和PXE影响的结构成分的基本了解方面取得的重大进展。尽管这些进展意义重大，但它们突显了基本的遗传和分子进步与这种疾病的发病机制之间缺乏联系。这次会议将回顾遗传学、细胞和分子生物学方面的进展，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，让他们讨论转运蛋白生物学、新陈代谢、遗传学和流行病学的相关进展，并让临床同事和PXE国际公司共同规划未来的研究和翻译应用。预计受众将代表具有不同专业知识的广泛个人，包括护理PXE患者的执业临床医生、内科科学家和基础科学研究人员以及非专业领导人，他们都对PXE感兴趣。这次研讨会的具体目的是为基础科学和临床科学之间的思想交流提供一个论坛，这可能是在更多的一般会议上无法实现的，这对转化性研究至关重要。皮肤科、眼科、胃肠科和心脏科的临床研究人员的出席将使人们能够广泛讨论PXE的许多系统效应，让基础科学关注它，并反过来为数据收集和临床护理设定最佳实践标准。特别注意青年研究人员和受训人员参加这次会议，并让来自代表性不足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.