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

描述（由申请人提供）： Hutchinson-Gilford早老综合征（Hutchinson-Gilford progeria syndrome，HGPS）是一种罕见的常染色体显性遗传节段性早衰症，其中100%的儿童死于中风或心脏病发作，平均年龄为13岁，这是长期动脉粥样硬化的结果。它是由LMNA基因突变引起的，LMNA基因编码核纤层蛋白A，核纤层蛋白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，异常核纤层蛋白A（称为早老蛋白）也由正常个体以低水平产生，并随着年龄的增长在细胞核中积累。核纤层蛋白A和早老蛋白在影响我们所有人的心脏病和衰老中的作用只是在早老症基因发现之后才被发现。因此，对这一罕见疾病的研究为正常老年人群的细胞衰老和血管疾病的研究提供了新的途径。 早老症研究基金会（PRF）成立于1999年。它的使命是通过研究和教育发现早衰症及其与衰老有关的疾病的原因、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个科学讲习班，对早衰症及其与心血管疾病和衰老的关系进行了令人兴奋的研究。这些研讨会推动了该领域从默默无闻，通过基因发现，创建早衰症小鼠模型，自然史研究，在实验室中测试治疗，并启动有史以来第一次治疗试验与早衰症儿童。 这个为期2.5天的会议将开始与父母和患有早衰症的儿童进行特别小组讨论。随后将举行为期两天的25场正式演讲，40-50场海报演讲和一场非正式的晚间会议。衰老，心脏病，核纤层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基化抑制剂作为治疗早衰症动物模型和人类，包括介绍第一个完成的HGPS临床试验的结果。我们将提供一个开放的论坛，讨论早衰症研究的基本方向，促进科学合作，讨论来自PRF和NIH等来源的该领域的具体资金需求，并提供有关基础设施计划的更新，以帮助科学和医学界，如早衰症患者登记处，细胞和组织库，临床和研究数据库，以及诊断设施。 早衰症研究的最新历史是转化医学的一个模型。对核纤层蛋白A多年的基础研究使该领域有希望开花，因为基于生物学的治疗早衰症的试验随之而来。2010年的研讨会将再次把基础和临床科学家聚集在一起，计划未来几年的发现到早衰症，核纤层蛋白生物学，心脏病和细胞衰老。公共卫生相关性：由PRF和NIH共同主办的关于哈钦森吉尔福德早衰综合征（早衰症）和相关早衰症的科学讲习班在过去8年中一直是制定早衰症研究议程的关键。自2007年上一次研讨会以来的前沿研究已经证实并加强了早衰症作为研究正常老龄化人群心脏病许多方面的独特模型。2010年的研讨会将公布有史以来第一次对患有早衰症的儿童进行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，努力将实验室科学带到早衰症的床边，并为一般老龄化人口服务。

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.