CAG Triplet Repeat Disorders Gordon Research Conference and Seminar

CAG 三联重复疾病戈登研究会议和研讨会

• 批准号: 8898309
• 负责人: Beverly L. Davidson
• 金额: $ 2万
• 依托单位: GORDON RESEARCH CONFERENCES
• 依托单位国家: 美国
• 财政年份: 2015
• 资助国家: 美国
• 起止时间: 2015-03-01 至 2016-02-29
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8898309
• 关键词: Affect; American; Basic Science; Biochemistry; Brain Diseases; CAG repeat; Cells; Clinic; Clinical; Clinical Trials; Code; Collaborations; Data; Dentatorubropallidoluysian atrophy pathway; Disabled Persons; Discipline; Disease; Drosophila genus; Education; Ensure; Environment; European; Faculty; Fostering; France; Functional disorder; Funding; Genes; Genetic; Human; Human Genetics; Huntington Disease; Inherited; Institutes; Interdisciplinary Study; Italy; Journals; Kennedy Syndrome; Mentors; Metabolism; Microsatellite Instability; Mind; Minority; Molecular; Molecular Genetics; Molecular and Cellular Biology; Natural History; Nature; Nerve Degeneration; Neurology; Neurons; Organic Chemistry; Paper; Participant; Pathogenesis; Pathologist; Pathway interactions; Postdoctoral Fellow; Proteins; Publishing; RNA; Request for Applications; Research; Research Personnel; Resort; Resources; Science; Scientist; Senior Scientist; Site; Social Interaction; Structure; Therapeutic Intervention; Thinking; Time; Toxic effect; Training; Translations; Trinucleotide Repeats; Type 1 Spinocerebellar Ataxia; Woman; Work; abstracting; career; college; graduate student; human disease; innovation; lectures; meetings; member; mutant; nervous system disorder; novel; peer; planetary Atmosphere; posters; programs; public health relevance; spinal and bulbar muscular atrophy; stem; symposium

 DESCRIPTION (provided by applicant): This application requests funding for the 2015 Gordon Research Conference on CAG Triplet Repeat Disorders and the associated Graduate Research Seminar to be held at the Il Ciocco Resort in Barga, Italy from May 30 - June 5, 2015. This will be the eighth Gordon Research Conference on CAG Triplet Repeat Disorders. The previous five conferences have alternated between American (Mount Holyoke College, 2001, 2005; Waterville Valley NH, 2009 and 2013) and European (Il Ciocco, Italy 2003, 2011 and Aussois, France 2007) sites. This is the third 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). The disease-inducing CAG repeat expansion occurs in coding regions within the affected gene and can confer toxicity via RNA-dependent and/or protein-dependent mechanisms. Differences in the anatomical distribution of selective neuronal degeneration make it imperative to unravel their natural histories, cellular dysfunction and gene, RNA and protein pathways involved in the pathogenesis. To increase the pace of basic research discovery and set in place the contacts and clinical resources necessary to move the basic science forward, perhaps 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 scientists 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 both structured discussions led by peers and for informal discussion and social interactions to facilitate collaboration. Strong emphasis is placed on training and mentoring of young scientists, and time will be devoted to career issues. All participants will be required to present posters. The 2015 GRC has new innovations including a devoted session within the GRC to GRS participants and more late-breaking talks to be pulled from the abstracts from prior years. Priority will be given to women, minorities and persons with disabilities when selecting participants for all sessions.

 描述（由申请人提供）：本申请请求资助 2015 年戈登 CAG 三联体重复疾病研究会议以及相关的研究生研究研讨会，该研讨会将于 2015 年 5 月 30 日至 6 月 5 日在意大利巴尔加的 Il Ciocco 度假村举行。将是第八届关于 CAG 三联重复疾病的戈登研究会议 之前的五次会议在美国轮流举行（曼荷莲学院，2001 年， 2005 年；新罕布什尔州沃特维尔谷，2009 年和 2013 年）和欧洲（意大利 Il Ciocco，2003 年、2011 年和法国奥苏瓦，2007 年）举办相关的 CAG 三联体重复障碍研究生研究研讨会。一组基本上无法治疗的遗传性神经系统疾病，由突变基因中 CAG 三核苷酸重复的扩展引起。亨廷顿病 (HD)、脊髓和延髓肌萎缩症（SBMA、肯尼迪病）、脊髓小脑共济失调 1、2、3、6、7 和 17 型以及齿状核红苍白卢伊萎缩症 (DRPLA) 疾病诱发的 CAG 重复扩增发生于。受影响基因内的编码区可以通过RNA依赖性和/或蛋白质依赖性机制的差异赋予毒性。选择性神经元变性的解剖分布使得必须解开其发病机制中所涉及的自然历史、细胞功能障碍以及基因、RNA和蛋白质途径，以加快基础研究发现的步伐，并建立必要的联系和临床资源来推动这一过程。基础科学的发展，或许进入临床，需要在有机化学、果蝇遗传学、神经学和人体临床试验等不同学科的科学家之间建立合作项目。混乱将聚集在一起年轻的研究人员和资深科学家将就前沿科学发表令人兴奋的讲座，按照戈登研究会议的形式，将分配大量时间用于由同行主导的结构化讨论以及非正式讨论和社交互动，以促进合作。 2015 年 GRC 非常重视对年轻科学家的培训和指导，并要求所有参与者展示海报，包括在 GRC 内为 GRS 参与者举办专门会议等。 - 打破谈判在选择参加所有会议时，将优先考虑妇女、少数民族和残疾人。