CAG Triplet Repeat Disorders Gordon Research Conference and Seminar

 描述（由申请人提供）：本申请要求资助2015年戈登研究会议CAG三重重复疾病和相关的研究生研究研讨会将于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。这将是第八届关于CAG三重重复障碍的戈登研究会议。前五次会议在美国（霍利奥克山学院，2001年，2005年;沃特维尔谷NH，2009年和2013年）和欧洲（Il Ciocco，意大利2003年，2011年和Aussois，法国2007年）网站之间交替举行。这是第三年，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）。疾病诱导CAG重复扩增发生在受影响基因内的编码区中，并且可以通过RNA依赖性和/或蛋白质依赖性机制赋予毒性。选择性神经元变性的解剖学分布的差异使得必须解开它们的自然历史，细胞功能障碍以及参与发病机制的基因，RNA和蛋白质途径。为了加快基础研究发现的步伐，并建立必要的联系和临床资源，以推动基础科学向前发展，也许进入临床，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。重点放在青年科学家的培训和指导上，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。2015年的GRC有新的创新，包括在GRC内专门为GRS参与者举办的会议，以及从前几年的摘要中提取的更多最新演讲。在挑选所有会议的与会者时，将优先考虑妇女、少数群体和残疾人。

 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.