PRF 10th Anniversary Workshop on Progeria - "From Bench to Bedside in a Decade"

描述(由申请人提供)： Hutchinson-Gilford早衰症(HGPS)是一种罕见的常染色体显性节段性早衰疾病，100%的儿童在平均13岁时死于中风或心脏病发作，这是长期动脉粥样硬化的结果。它是由编码层蛋白A的LMNA基因突变引起的，层蛋白A是一种内核膜蛋白，是关键的结构和细胞信号分子。重要的是，异常的层蛋白A(称为孕激素)也是由正常个体在低水平下产生的，并随着年龄的增长在细胞核中积累。层蛋白A和孕激素在影响我们所有人的心脏病和衰老中的作用是在早衰症基因发现之后才被发现的。因此，对这种罕见疾病的研究为研究正常老龄化人群的细胞衰老和血管疾病提供了一条新的途径。早衰症研究基金会(PRF)成立于1999年。其使命是通过研究和教育，发现早衰症及其与衰老相关的疾病的病因、治疗和治愈。通过2001年、2003年、2004年、2005年和2007年举办的一系列5个科学研讨会，为研究早衰症及其与心血管疾病和老龄化的关系做出了令人兴奋的努力。这些研讨会推动了这一领域从默默无闻到基因发现、早衰症小鼠模型的创建、自然历史研究、实验室中的治疗测试以及首次针对早衰症儿童的治疗试验。这次为期两天半的会议将以与患有早衰症的父母和儿童进行特别小组讨论开始。随后是为期两天的25个正式报告、40-50个海报报告和一个非正式的晚间会议。老龄化、心脏病、层粘连蛋白生物学和早衰症领域的专家，以及诱导多能干细胞和高通量检测系统等前沿研究的专家，将从基础和临床角度为研讨会做出贡献。2010年研讨会的一个亮点将是讨论法尼化抑制剂作为治疗早衰症动物模型和人类的方法，包括介绍第一个已完成的HGPS临床试验的结果。我们将提供一个公开论坛，讨论Progeria研究的基本方向，促进合作的科学努力，讨论PRF和NIH等来源对该领域的具体资金需求，并提供帮助科学和医学界的基础设施项目的最新信息，如Progeria患者登记、细胞和组织库、临床和研究数据库以及诊断设施。近代史的研究是转化医学的典范。随着对早衰症的生物治疗试验的进行，对层蛋白A多年的基础研究使该领域充满希望地开花。2010年的研讨会将再次把基础和临床科学家聚集在一起，计划未来几年在早衰症、板层生物学、心脏病和细胞衰老方面的发现。公共卫生相关性：在过去8年中，由PRF和NIH共同赞助的关于Hutchinson Gilford早衰症(早衰症)和相关早衰症的科学研讨会是制定早衰症研究议程的关键。自2007年最后一次研讨会以来的尖端研究证实并加强了Progeria作为在正常老龄化人口中研究心脏病许多方面的独特模型。2010年的研讨会将公布首次针对早衰症儿童的临床治疗试验的结果，并将继续促进基础和临床研究科学家之间的合作，努力将台架科学带到床边治疗早衰症和一般老龄化人口。

DESCRIPTION (provided by applicant): Hutchinson-Gilford progeria syndrome (Progeria or HGPS) is a rare, autosomal dominant segmental premature-aging disease in which 100% of children die at an average age of thirteen years due to strokes or heart attacks, a consequence of prolonged atherosclerosis. It is caused by a mutation in the LMNA gene, which encodes lamin A, an inner nuclear membrane protein that serves as a key structural and cell signaling molecule. Importantly, the abnormal lamin A (called progerin), is also produced by normal individuals at low levels and builds up in nuclei with increasing age. Roles for lamin A and progerin in the heart disease and aging that affect us all have come to light only in the wake of the Progeria gene discovery. Hence, the study of this rare disease has provided a new avenue for the study of cellular aging and vascular disease in the normal aging population. The Progeria Research Foundation (PRF) was founded in 1999. Its mission is to discover the cause, treatment and cure for Progeria and its aging-related disorders, through research and education. An exciting effort for research into Progeria and its relationship to cardiovascular disease and aging has been developed through a series of 5 scientific workshops held in 2001, 2003, 2004, 2005 and 2007. These workshops have propelled the field from obscurity, through gene discovery, creation of Progeria mouse models, natural history studies, testing treatments in the laboratory, and initiation of first-ever treatment trials for children with Progeria. This 2.5 day meeting will begin with a special panel discussion with parents and children living with Progeria. This will be followed by two days of 25 formal presentations, 40-50 poster presentations, and an informal evening meeting session. Experts in the fields of aging, heart disease, lamin biology, and Progeria, as well as experts on cutting edge research such as induced pluripotent stem cells and high throughput assay systems, will contribute to the workshop from both the basic and clinical perspectives. A highlight of the 2010 workshop will be the discussion of farnesylation inhibitors as treatment for Progeria animal models and in humans, including presentation of results from the first completed HGPS clinical trial. We will provide an open forum for discussing essential directions for Progeria research, fostering collaborative scientific efforts, discussing specific funding needs for the field from sources such as PRF and NIH, and providing updates on infrastructural programs that aid the scientific and medical communities such as the Progeria patient registry, cell and tissue bank, clinical and research database, and diagnostics facility. The recent history of Progeria research is a model for translational medicine. Years of basic study into lamin A has allowed the field to blossom with promise, as the biologically based treatment trials for Progeria ensue. The 2010 Workshop will bring basic and clinical scientists together once again, to plan the coming years of discovery into Progeria, lamin biology, heart disease, and cellular aging. PUBLIC HEALTH RELEVANCE: Scientific workshops on Hutchinson Gilford Progeria Syndrome (Progeria) and related Progerias, co-sponsored by PRF and NIH, have been key in developing the Progeria research agenda over the past 8 years. Cutting edge research since the last Workshop in 2007 has confirmed and strengthened Progeria as a unique model for investigating many aspects of heart disease in the normal aging population. The 2010 workshop will unveil results from the first-ever clinical treatment trial for children with Progeria, and will continue to foster collaborations between basic and clinical research scientists in an effort to bring bench science to the bedside for progeria, and for the general aging population.