The Progeria Research Foundation 8th International Scientific Workshop "Across the Table, Around the Globe"

项目摘要 概述：Hutchinson-Gilford早衰症(HGPS或早衰症)是一种罕见的、致命的节段性早产 由LMNA基因的剪接点突变引起的老年病。患有早衰症的儿童死于心脏 发病或中风的平均年龄为14.6岁，发生在过早的进行性动脉粥样硬化之后。这个 早衰症研究基金会(PRF)的使命是寻找早衰症的病因、治疗和治愈方法。 它与衰老相关的疾病，包括心脏病。2016年PRF国际科学研讨会 早衰赛将于2016年5月2日至4日在马萨诸塞州剑桥市举行。这将是永久系列中的第8个 PRF自2001年以来举办的国际讲习班。之前的所有会议都是由国家 卫生研究院。关于Progeria的同行评议出版物数量创历史新高， 来自PRF细胞和组织库的细胞系用于HGPS临床前探索，有大量的 新的科学信息可供讨论。目标：创造理想的协作环境 基础和临床科学家之间的讨论，讨论他们对Progeria的集体经验如何 加快在早衰症、心血管疾病和老龄化领域的科学进步；协调 开展研究活动，并在这些领域开展未来的活动。节目：会议以一个 在一个鼓舞人心的会议上，患有老年痴呆症的孩子和他们的父母一起分享他们的经历，感受， 以及科学观众中的非凡个性。这之后是一个全面的“基线” 会议总结了HGPS的重要临床和基础科学发现及其与衰老和 心血管疾病。这将为以后更深入地讨论HPGS的具体方面奠定基础 会话。在整个项目中，经验丰富的HGPS、CVD和老年专家，以及初级 毫无疑问，他们将在未来十年引领这一领域。第二天将包括来自 仅有的两项正在进行的HGP临床治疗试验和正在进行的蛋白质组学研究，以确定HGP的生物标志物 并量化法尼化孕激素，这是导致HGPS的突变蛋白。那么，未来的干预措施 占据了中心舞台，新的数据支持7种药物干预，3种RNA疗法，以及端粒- 以治疗策略为基础。一场前沿的基础科学会议随后强调了层蛋白A在疾病中的作用 以及衰老，包括诱导多能干细胞研究。总结将由医学博士弗朗西斯·柯林斯领导， 发现HGPS突变的美国国立卫生研究院博士朱迪思·坎皮西博士(Buck Inst.) 马克·基兰，医学博士，博士(哈佛大学)，HGPS临床试验首席研究员。他们会 促进基础和临床科学家从会议中获得的互动讨论，以及 与会者将为他们未来的研究带来什么。我们估计有超过200人参加，来自15个 26名发言者和60张海报，来自不同的国家。结论：这次会议上提出的科学代表着下一步 老年人群中早衰症的发现及其与衰老和心血管疾病的关系。

Project Summary Overview: Hutchinson-Gilford progeria syndrome (HGPS or Progeria) is a rare, fatal segmental premature aging disease caused by a splice site mutation in the LMNA gene. Children with Progeria die from heart attacks or strokes at an average age of 14.6 years following premature, progressive atherosclerosis. The mission of The Progeria Research Foundation (PRF) is to find the cause, treatments and cure for Progeria and its aging-related disorders, including heart disease. The 2016 PRF International Scientific Workshop on Progeria will be held in Cambridge, MA on May 2-4, 2016. This will be the 8th in a perpetual series of International Workshops conducted by PRF since 2001. All prior meetings were co-funded by the National Institutes of Health. With record-high numbers of both peer-reviewed publications on Progeria and requests for cell lines from the PRF Cell and Tissue Bank for HGPS preclinical explorations, there is a tremendous amount of new scientific information to discuss. Objectives: to create an ideal environment for collaborative discussion between basic and clinical scientists about how their collective experience with Progeria can accelerate scientific progress in the fields of Progeria, cardiovascular disease (CVD) and aging; to coordinate research activities, and to develop future activities in these fields. Program: The meeting starts with an inspiring session where children living with Progeria, along with their parents, share their experiences, feelings, and extraordinary personalities with the scientific audience. This is followed by a comprehensive “baseline” session summarizing key clinical and basic science discoveries in HGPS and their relationships to aging and CVD. This will lay the foundation for more in-depth discussion of specific aspects of HPGS in the subsequent sessions. Peppered throughout the program are seasoned HGPS, CVD and aging experts, mixed with junior investigators who will undoubtedly lead this field over the coming decade. Day two will include findings from the only two ongoing clinical treatment trials for HGPS, and ongoing proteomic studies to identify biomarkers of disease and to quantify farnesylated progerin, the HGPS-causing mutant protein. Future interventions then take center stage, with new data supporting 7 pharmacologic interventions, 3 RNA therapeutics, and telomere- based treatment strategies. A cutting edge basic science session then highlights the role of lamin A in disease and aging, including induced pluripotent stem cell research. The wrap-up will be led by Francis Collins, MD, PhD (NIH), who discovered the HGPS mutation, Judith Campisi, PhD (Buck Inst.), a world-renowned aging investigator, and Mark Kieran, MD, PhD (Harvard U.), Principal Investigator for HGPS clinical trials. They will facilitate an interactive discussion of what the basic and clinical scientists have gained from the meeting, and what the attendees will bring forward into their future research. We estimate over 200 attendees from 15 countries, 26 speakers and 60 posters. Conclusion: Science presented at this meeting represents the next wave of discovery in Progeria and its relationships to aging and CVD in the geriatric population.