The 2007 Progeria Research Foundation Workshop on Hutchinson Gilford Progeria

2007 年早衰症研究基金会哈钦森·吉尔福德早衰症研讨会

基本信息

批准号：
7407834
负责人：
LESLIE B GORDON
金额：
$ 3万
依托单位：
PROGERIA RESEARCH FOUNDATION, INC.
依托单位国家：
美国
项目类别：
财政年份：
2007
资助国家：
美国
起止时间：
2007-09-21 至 2008-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/7407834
关键词：
Adult Age Aging Aging-Related Process Animal Model Area Atherosclerosis Biochemistry Biochemistry and Cellular Biology Biology Boston Cardiovascular Diseases Cells Cellular biology Child Clinical Research Communities Databases Development Diagnostic Disease Education Educational workshop Family Farnesyl Transferase Inhibitor Fostering Foundations Funding Funding Agency Genes Genetic Heart Diseases Insulin Resistance Lamin Type A Lamins Medical Membrane Proteins Mission Mus Mutation Myocardial Infarction Natural History Nuclear Envelope Numbers Osteoporosis Participant Pharmaceutical Preparations Phase II Clinical Trials Physiology Population Premature aging syndrome Production Progeria Proteins Research Role Scientific Advances and Accomplishments Scientist Series Signal Transduction Signaling Molecule Site Staging Stem cell transplant Stroke Structure Syndrome System Thinking Tissue Banks Tissue Model United States National Institutes of Health abstracting age related design gene therapy mouse model mutant normal aging patient registry posters programs

项目摘要

DESCRIPTION (Provided by applicant): Hutchinson-Gilford progeria syndrome (HGPS or Progeria) is a rare, fatal, premature-aging disease in which all Progeria children die at an average age of thirteen years due to strokes or heart attacks, a consequence of prolonged atherosclerosis. Progeria and a number of other progeroid diseases are 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 throughout the body. The turning-point discovery in 2003 of the lamin A gene's role in Progeria has provided the framework for the development of new mouse models of Progeria and a first-ever drug trial (phase II) for Progeria children. Importantly, the newly discovered production of the Progeria mutant protein (progerin) in the normal adult population is thought to be a potential factor in the development of cardiovascular disease (CVD) and in the typical aging process. The Progeria Research Foundation (PRF) was founded in 1999 with the mission to discover the cause, treatment and cure for Progeria and its aging-related disorders, through research and education. The collaborative efforts of PRF and NIH has yielded exciting scientific research into Progeria and its relationship to CVD and aging through a series of workshops held every other year: 2001, 2003 and 2005. These prior three workshops have propelled the field of Progeria into exciting scientific advances. To maintain the momentum of scientific discovery and support programs for the Progeria medical community, PRF is seeking NIH funding for a 2007 workshop (Nov 12-14, Boston MA). The 2007 workshop agenda has been formed by a PRF organizing committee with the guidance of an advisory panel of national experts from the fields of aging, lamin biology, and Progeria. The structure of the workshop will include 22 formal speakers, 2 open sessions for "latebreaking" experimental results, 30-40 poster presentations, and an opportunity to meet Progeria children and their families. Informal discussions will be encouraged during on-site shared meals and poster sessions. Junior scientists are encouraged to participate and share their results, particularly through the poster sessions. The selected speakers (clinicians and scientists) have made significant contributions in their fields, encompassing areas of genetics, physiology, cell biology, biochemistry, CVD and aging. The workshop format has been designed to foster collaborative scientific efforts, discuss funding sources, provide an open forum for determining new directions for research, and inform participants on the progress of ongoing PRF infrastructural programs that aid the scientific and medical communities (i.e. PRF Progeria patient registry, cell and tissue bank, clinical and research database, and diagnostics program). We are at the early stages of new directions for research into the mechanisms of disease caused by alterations in the lamin protein. Exploration into the basic cellular biology and biochemistry of this molecule will require intense study and collaborative efforts from the scientific community. We predict a highlight of the 2007 workshop will be the discussion of farnesyltransferase inhibitors as effective treatment in Progeria animal models and potentially in children with Progeria. Workshop topics will include the natural history of this multi-system disease, the potential for genetic therapies, and stem cell transplantation in HGPS. Effects of Progeria mutations on different tissues of model mice are likely to fuel studies on heart disease and normal aging, as well as important studies on the mechanisms by which osteoporosis, insulin resistance, and other developmental abnormalities found in Progeria arise. (End of Abstract)

描述（由申请人提供）：哈钦森-吉尔福德早衰症候群（HGPS 或早衰症）是一种罕见的致命性过早衰老疾病，所有早衰症儿童平均在 13 岁时死于中风或心脏病（这是长期动脉粥样硬化的结果）。早衰症和许多其他早衰症是由编码核纤层蛋白 A 的 LMNA 基因突变引起的，核纤层蛋白 A 是一种内核膜蛋白，是全身关键的结构和细胞信号分子。 2003 年，核纤层蛋白 A 基因在早衰症中的作用这一转折点的发现，为开发新的早衰症小鼠模型和针对早衰症儿童的首次药物试验（II 期）提供了框架。重要的是，新发现的早衰症突变蛋白（早衰素）在正常成年人群中的产生被认为是心血管疾病（CVD）发展和典型衰老过程的潜在因素。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来发现早衰症及其与衰老相关疾病的原因、治疗和治愈方法。 PRF 和 NIH 的合作努力，通过每隔一年举办一次的一系列研讨会（2001 年、2003 年和 2005 年），对早衰症及其与 CVD 和衰老的关系进行了令人兴奋的科学研究。前三场研讨会已将早衰症领域推向令人兴奋的科学领域。进步。为了保持早衰症医学界科学发现和支持计划的势头，PRF 正在为 2007 年研讨会（11 月 12 日至 14 日，马萨诸塞州波士顿）寻求 NIH 资助。 2007 年研讨会议程是由 PRF 组委会在衰老、核纤层蛋白生物学和早衰症领域的国家专家顾问小组的指导下制定的。研讨会的结构将包括 22 名正式演讲者、2 场“最新”实验结果公开会议、30-40 场海报展示，以及与早衰症儿童及其家人见面的机会。在现场共享餐食和海报会议期间将鼓励非正式讨论。我们鼓励年轻科学家参与并分享他们的成果，特别是通过海报会议。选定的演讲者（临床医生和科学家）在各自的领域做出了重大贡献，包括遗传学、生理学、细胞生物学、生物化学、心血管疾病和衰老领域。研讨会形式旨在促进科学合作，讨论资金来源，提供一个确定新研究方向的开放论坛，并向参与者通报正在进行的 PRF 基础设施项目的进展情况，这些项目旨在帮助科学界和医学界（即 PRF 早衰症患者）登记、细胞和组织库、临床和研究数据库以及诊断程序）。我们正处于研究核纤层蛋白改变引起的疾病机制新方向的早期阶段。对该分子的基础细胞生物学和生物化学的探索需要科学界的深入研究和协作努力。我们预计 2007 年研讨会的一大亮点将是讨论法尼基转移酶抑制剂作为早衰症动物模型以及早衰症儿童的有效治疗方法。研讨会主题将包括这种多系统疾病的自然史、基因疗法的潜力以及 HGPS 中的干细胞移植。早衰症突变对模型小鼠不同组织的影响可能会促进对心脏病和正常衰老的研究，以及对早衰症中发现的骨质疏松症、胰岛素抵抗和其他发育异常发生机制的重要研究。（摘要完）