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

项目摘要 概述：Hutchinson-Gilford早衰综合征（HGPS或早衰症）是一种罕见的，致命的节段性早产儿， 由LMNA基因中的剪接位点突变引起的衰老疾病。患有早衰症的儿童死于心脏病 在过早的、进行性动脉粥样硬化后，平均14.6岁时发作或中风。的 早老症研究基金会（PRF）的使命是寻找早老症的病因、治疗方法和治愈方法， 包括心脏病在内的衰老相关疾病。2016年PRF国际科学研讨会 早衰症将于2016年5月2日至4日在马萨诸塞州剑桥举行。这将是一个永恒系列的第八个， 自2001年以来，基金会举办了国际讲习班。以前的所有会议都是由国家方案共同资助的。 卫生研究院。随着关于早衰症的同行评审出版物数量的创纪录， 细胞系从PRF细胞和组织库HGPS临床前探索，有大量的 新的科学信息来讨论目标：创造一个理想的协作环境 基础和临床科学家之间的讨论，关于他们对早衰症的集体经验如何能够 加速早衰症、心血管疾病和老龄化领域的科学进步;协调 研究活动，并在这些领域开展未来的活动。节目：会议以一个 鼓舞人心的会议，儿童与早衰症，沿着与他们的父母，分享他们的经验，感受， 和非凡的个性与科学观众。其次是全面的“基线” 会议总结了HGPS的关键临床和基础科学发现及其与衰老和 CVD。这将为在随后的报告中更深入地讨论HPGS的具体方面奠定基础。 sessions.在整个计划中，经验丰富的HGPS，CVD和衰老专家， 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HGPS临床治疗试验，以及正在进行的蛋白质组学研究，以确定HGPS的生物标志物。 疾病和定量法尼基化的早老蛋白，HGPS引起的突变蛋白。今后的干预措施 占据中心舞台，新的数据支持7种药物干预，3种RNA治疗，以及端粒- 基于治疗策略。一个前沿的基础科学会议，然后强调了核纤层蛋白A在疾病中的作用， 和衰老，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， 博士（NIH），谁发现了HGPS突变，朱迪思坎皮西，博士（巴克研究所），世界著名的老龄化 研究员和Mark Kieran，MD，PhD（哈佛大学），HGPS临床试验的主要研究者。他们将 促进基础和临床科学家从会议中获得的互动讨论， 与会者将为他们未来的研究带来什么。我们估计超过200名与会者从15 国家、26位演讲者和60张海报。结论：本次会议上提出的科学代表了下一个 在早衰症及其与老龄化和心血管疾病在老年人群中的关系的发现浪潮。

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.