Pseudoxanthoma Elasticum Research 2010 Conference

描述(由申请者提供)：这项拨款申请请求部分支持一个名为“PXE研究2010”的会议。会议将于2010年9月8日和9日在马里兰州贝塞斯达的贝塞斯达北万豪酒店举行，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。这次会议将利用自2004年上次研究会议以来在遗传学、病因学和潜在的治疗方法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。本次会议的具体目的是回顾PXE基础和翻译研究的现状，确定最相关的生物标志物和临床终点，为临床试验做准备，并评估一些假想的治疗干预措施，包括维生素K治疗和抗血管生成治疗。此外，会议还将回顾对PXE临床表现的理解，以就诊断标准达成共识。会议将为研究人员提供一个论坛，讨论转运蛋白生物学、新陈代谢、遗传学和流行病学方面的相关进展，并让临床同事和PXE国际组织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。此外，大会将为基础科学和临床科学之间的思想交流提供一个论坛，这在更多的大会上可能无法实现，这对转译研究至关重要。皮肤科、眼科、胃肠病学、代谢学和心脏病学等学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。将制定和传播一项研究计划。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 Conference, entitled "PXE Research 2010". The meeting will be held September 8 and 9th, 2010 at the Bethesda North 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 conference will capitalize on significant progress made in basic understanding of the genetics, etiology and potential treatments for the disease since the last research meeting in 2004. 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. The specific aim of this Conference is to review the current status of basic and translational research on PXE, determine the most relevant biomarkers and clinical endpoints in preparation for clinical trials, and evaluate a number of hypothetical therapeutic interventions including vitamin K therapy and anti-angiogensis therapies. Additionally, the meeting will review the understanding of the clinical manifestations of PXE, to come to consensus on diagnostic criteria. The Conference will 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. Further, the Conference will 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, metabolics, 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 collection and clinical care. A research plan will be developed and disseminated. Special attention is paid to the involvement of young investigators and trainees in this meeting, and involving both scientists and clinicians from underrepresented communities.