2009 CAG Triplet Repeat Disorders Gordon Research Conference

2009 年 CAG 三联重复疾病戈登研究会议

• 批准号: 7671898
• 负责人: JANG-HO J CHA
• 金额: $ 3.5万
• 依托单位: GORDON RESEARCH CONFERENCES
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-04-01 至 2010-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7671898
• 关键词: American; Basic Science; CAG repeat; Clinic; Clinical Trials; Code; Collaborations; Dentatorubropallidoluysian atrophy pathway; Development; Disabled Persons; Discipline; Disease; Drosophila genus; Education; Ensure; European; Faculty; France; Funding; Genes; Genetic; Human; Huntington Disease; Inherited; Interdisciplinary Study; Italy; Kennedy Syndrome; Mentors; Minority; Mutation; Nerve Degeneration; Neurology; New Hampshire; Organic Chemistry; Participant; Pathogenesis; Pathologic; Postdoctoral Fellow; Proteins; Request for Applications; Research; Research Personnel; Resort; Science; Scientist; Senior Scientist; Site; Social Interaction; Structure; Therapeutic Intervention; Time; Trinucleotide Repeats; Type 1 Spinocerebellar Ataxia; Woman; career; college; graduate student; insight; lectures; mutant; nervous system disorder; neuropathology; peer; polyglutamine; posters; public health relevance; spinal and bulbar muscular atrophy; symposium

DESCRIPTION (provided by applicant): This application requests funding for the 2009 Gordon Research Conference on CAG Triplet Repeat Disorders to be held at Waterville Valley Resort, New Hampshire from May 31 to June 5, 2009 as well as the associated Graduate Research Seminar to be held May 30-31, 2009. This will be the fifth Gordon Research Conference on CAG Triplet Repeat Disorders, with the previous four conferences having alternated between American (Mount Holyoke College, 2001 and 2005) and European (Il Ciocco, Italy 2003 and Aussois, France 2007) sites. This is the first year that there will be an associated Graduate Research Seminar. The CAG Triplet Repeat Disorders are a group of largely untreatable inherited neurological disorders which result from an expansion in a CAG trinucleotide repeat in the mutant genes. This group of diseases includes Huntington's disease (HD), spinal and bulbar muscular atrophy (SBMA, Kennedy's disease), spinocerebellar ataxias types 1, 2, 3, 6, 7, and 17, and dentatorubropallidoluysian atrophy (DRPLA). In each case, the CAG repeat lies within the coding region of a gene and results in an abnormally long polyglutamine tract within the mutant protein. Marked similarities in the underlying genetics and neuropathology suggest common pathologic mechanisms among these disorders. Differences in the anatomical distribution of selective neuronal degeneration also make it imperative to unravel the distinguishing factors. Since the identification of the genetic defects, significant insights have been gained into the pathogenesis of these diseases such that the development of therapeutic interventions is now a reality. In order not only to increase the pace of basic research discovery but also to move the basic science into the clinic, a multidisciplinary research effort is required. It is essential that collaborative projects between scientists from diverse disciplines ranging from organic chemistry and fruit fly genetics to neurology and human clinical trials be established. The conference on CAG Triplet Repeat Disorders will gather together young investigators and established senior scientist to deliver provoking lectures on the cutting-edge of science. In keeping with the Gordon Research Conference format, there will be generous time allocated for structured discussions led by peers and for informal discussion and social interactions to facilitate collaboration. Strong emphasis is placed on mentoring of young scientists, and time will be devoted to career issues. All participants will be required to present posters. Priority will be given to women, minorities and persons with disabilities when selecting participants. PUBLIC HEALTH RELEVANCE: The 2009 Gordon Research Conference on CAG Triplet Repeat Disorders and its associated Graduate Research Seminar will bring together researchers and clinicians to discuss cutting edge information on disease mechanisms and therapeutic interventions for these devastating neurological diseases. In addition, the format of the Gordon Research Conference and the funding sought herein will promote and ensure the attendance and enhanced education of junior scientists, including graduate students, postdoctoral fellows, and junior faculty.

描述（由申请人提供）：本申请要求为2009年5月31日至6月5日在新罕布什尔州沃特维尔山谷度假村举行的2009年戈登CAG三重重复疾病研究会议以及2009年5月30日至31日举行的相关研究生研究研讨会提供资金。这将是第五次关于CAG三联重复障碍的戈登研究会议，前四次会议在美国（霍利奥克山学院，2001年和2005年）和欧洲（意大利Il Ciocco，2003年和法国Aussois，2007年）轮流举行。这是第一年，将有一个相关的研究生研究研讨会。CAG三重重复序列疾病是一组很大程度上无法治疗的遗传性神经系统疾病，其由突变基因中CAG三核苷酸重复序列的扩增引起。这组疾病包括亨廷顿氏病（HD）、脊髓延髓肌萎缩症（SBMA，肯尼迪氏病）、1、2、3、6、7和17型脊髓小脑共济失调和齿状核红核苍白球路易体萎缩症（DRPLA）。在每种情况下，CAG重复序列位于基因的编码区内，并导致突变蛋白内异常长的多聚谷氨酰胺段。潜在遗传学和神经病理学的显著相似性表明这些疾病之间存在共同的病理机制。选择性神经元变性的解剖分布的差异也使得必须解开的区别因素。自从鉴定出遗传缺陷以来，已经对这些疾病的发病机理获得了重要的见解，使得治疗干预的发展现在成为现实。为了不仅加快基础研究发现的步伐，而且将基础科学推向临床，需要多学科的研究努力。至关重要的是，来自不同学科的科学家之间的合作项目，从有机化学和果蝇遗传学到神经学和人类临床试验，必须建立。关于CAG三重重复障碍的会议将聚集年轻的研究人员和资深科学家，就科学前沿发表发人深省的演讲。为了与戈登研究会议的形式保持一致，将有大量的时间分配给同行领导的结构化讨论和非正式讨论和社交互动，以促进合作。特别强调对青年科学家的指导，并将把时间用于职业问题。所有参与者都将被要求展示海报。在挑选参与者时，将优先考虑妇女、少数民族和残疾人。 公共卫生相关性：2009年戈登研究会议CAG三重重复障碍及其相关的研究生研究研讨会将汇集研究人员和临床医生讨论这些毁灭性神经系统疾病的疾病机制和治疗干预的前沿信息。此外，戈登研究会议的形式和在此寻求的资金将促进和确保初级科学家，包括研究生，博士后研究员和初级教师的出席和加强教育。