PRF 11th Anniversary Workshop on Progeria - "Hand in Hand: Basic and Clinica

描述(申请人提供)：Hutchinson-Gilford Progeria综合征(HGPS或Progeria)是一种罕见的、致命的节段性早衰疾病，由LMNA剪接点突变引起。所有患有早衰症的儿童死于心脏病发作或中风的平均年龄为13岁，死于过早的、进行性的动脉粥样硬化。早衰症研究基金会(PRF)的使命是寻找早衰症及其衰老相关疾病的病因、治疗和治愈方法。2013年PRF关于早衰症的国际科学研讨会将于2013年4月24-26日在马里兰州贝塞斯达举行。这将是PRF自2001年以来进行的永久系列活动中的第六次。之前的所有会议都是由国立卫生研究院共同资助的。随着2011年和2012年关于Progeria的同行评议出版物创下历史新高，有大量新的科学信息需要讨论。会议目标：为基础和临床科学家之间的协作讨论创造一个理想的环境，讨论他们关于Progeria的集体经验如何加速Progeria、心血管疾病(CVD)和老龄化领域的科学进步。节目和演讲者：会议以一个鼓舞人心的采访环节开始，采访患有早衰症的儿童。之后是全体会议 发言人弗朗西斯·柯林斯，医学博士，发现了早衰症基因突变。他将把Progeria作为一个转化医学的成功故事来关注，这给我们带来了理解心血管疾病和衰老因素的独特钥匙。在题为“临床治疗试验”的会议上，试验首席调查员将介绍主要发现。Mark Kieran医学博士、博士(波士顿Dana Farber癌症研究所)和Nicolas Levy医学博士(法国马赛)将讨论法尼基转移酶抑制剂、双磷酸盐和他汀类药物在Progeria中的应用。心血管疾病、骨病和衰老方面的临床专家也将出席。华盛顿大学医学博士乔治·马丁是衰老遗传学的顶级专家，他将主持题为“衰老、心血管疾病和早衰症”的会议，该会议将包括研究孕激素和端粒之间的联系。卡洛斯·L博士(西班牙奥维耶多)将主持一场关于孕激素和层蛋白在健康和疾病中的伙伴的会议，领先的层蛋白生物学家，如罗伯特·戈德曼博士(西北大学)。Thomas Misteli博士(NCI)将主持一场关于研究和发现的尖端战略的会议，包括诱导多能干细胞研究、基因疗法、雷帕霉素和药物发现。两次短谈小组会议将培养年轻的调查人员。每一次演讲都将伴随着一张海报，上面有学习细节。世界知名的老龄化研究人员朱迪思·坎皮西博士(Buck Inst)将主持一个基础科学小组；波士顿儿童医院医学博士莫妮卡·克莱曼(Monica Kleinman)将主持一个临床科学小组，她曾领导美国心脏协会的临床政策小组，并担任Progeria临床试验的联合主席。我们估计有155名与会者、39名演讲者和50张海报演示文稿。教育工具包括海报竞赛和继续医学教育学分。结论：在这次会议上提出的科学代表了早衰症的下一波发现及其与心血管疾病和衰老的关系。

DESCRIPTION (provided by applicant): Hutchinson-Gilford Progeria Syndrome (HGPS or Progeria) is a rare, fatal segmental premature aging disease caused by a splice site mutation in LMNA. All children with Progeria die from heart attacks or strokes at an average age of 13 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. The 2013 PRF International Scientific Workshop on Progeria will be held in Bethesda, MD on April 24-26, 2013. This will be the sixth in a perpetual series conducted by PRF since 2001. All prior meetings were co-funded by the National Institutes of Health. With record-high peer-reviewed publications on Progeria in 2011 and 2012, there is a tremendous amount of new scientific information to discuss. Meeting Objectives: to create an ideal environment for collaborative discussion between basic and clinical scientists about how their collective experience with Progeria can accelerate the scientific progress in the fields of Progeria, cardiovascular disease (CVD) and aging. Program and Speakers: The meeting starts with an inspiring interview session with children living with Progeria. This is followed by Plenary Session speaker Francis Collins, MD, PhD, who discovered the Progeria gene mutation. He will focus on Progeria as a translational medicine success story which brings us unique keys to understanding elements of cardiovascular disease and aging. In a session entitled "Clinical Treatment Trials", trial principal investigators will present major findings. Mark Kieran, MD, PhD (Dana Farber Cancer Inst., Boston) and Nicolas Levy, MD (Marseilles, France) will discuss farnesyltransferase inhibitor, bisphosphonate and statin use in Progeria. Clinical experts on CVD and bone disease of Progeria and aging will also present. George Martin, MD (U. Washington), a top expert in the genetics of aging, will lead the session entitled "Aging, Cardiovascular Disease, and Progeria", which will include investigations on the connections between progerin and telomeres. Carlos L¿pez-Ot¿n, PhD (Oviedo, Spain) will moderate a session on progerin and lamin partners in health and disease, with leading lamin biologists such as Robert Goldman, PhD (Northwestern U.). Thomas Misteli, PhD (NCI) will lead a session on cutting edge strategies for research and discovery, including induced pluripotent stem cell research, genetic therapies, rapamycin and drug discovery. Two short-talk panel sessions will foster young investigators. Each talk will be accompanied by a poster with study details. Judith Campisi, PhD (Buck Inst.), a world-renowned aging investigator will moderate a basic science panel; Monica Kleinman, MD (Boston Children's Hosp.), who has led clinical policy panels for the American Heart Association and co-chairs Progeria clinical trials, will moderate a clinical science panel. We estimate 155 attendees, 39 speakers and 50 poster presentations. Educational tools include a poster competition and continuing medical education credits. Conclusion: Science presented at this meeting represents the next wave of discovery in Progeria and its relationships to CVD and aging.