CAG Triplet Repeat Disorders

描述（由申请人提供）：本申请为2013年6月22日至28日在新罕布什尔州沃特维尔谷度假村举行的CAG三重重复障碍戈登研究会议和相关研究生研究研讨会申请资金。这将是第七届CAG三重重复疾病戈登研究会议。前五次会议轮流在美国（Mount Holyoke College， 2001年、2005年；新罕布什尔州Waterville Valley， 2009年、2013年）和欧洲（意大利Il Ciocco， 2003年、2011年和法国Aussois， 2007年）举行。这是第三年将有一个相关的研究生研究研讨会。CAG三联体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，其原因是突变基因中CAG三核苷酸重复序列的扩增。这类疾病包括亨廷顿氏病（HD）、脊髓和球性肌萎缩症（SBMA，肯尼迪病）、脊髓小脑共济失调1、2、3、6、7和17型，以及齿状体苍白球萎缩症（DRPLA）。在每种情况下，CAG重复序列位于基因的编码区域内，并导致突变蛋白内异常长的聚谷氨酰胺束。在潜在的遗传学和神经病理学上的显著相似性表明这些疾病之间有共同的病理机制。选择性神经元变性在解剖分布上的差异也使得有必要揭示其区别因素。由于遗传缺陷的鉴定，对这些疾病的发病机制有了重要的认识。该领域已经取得进展，治疗干预措施的发展现在已经成为现实。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，将基础科学推向临床，需要多学科的研究努力。从有机化学和果蝇遗传学到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是至关重要的。CAG三重重复障碍会议将聚集年轻的研究人员和资深科学家，就科学前沿发表令人振奋的演讲。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会互动，以促进合作。重点将放在对年轻科学家的培训和指导上，时间将用于职业问题。所有参与者都需要提交海报。在选择参加者时，将优先考虑妇女、少数民族和残疾人。

DESCRIPTION (provided by applicant): This application requests funding for the 2013 Gordon Research Conference on CAG Triplet Repeat Disorders and the associated Graduate Research Seminar to be held at the Waterville Valley Resort in Waterville Valley, NH from June 22-28, 2013. This will be the seventh 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, 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). 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. The field has progressed such that the development of therapeutic interventions is now a reality. To increase the pace of basic research discovery and set in place the contacts and clinical resources necessary to move the basic science into the clinic, a multidisciplinary research effort is required. It is essentialthat 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. Priority wil be given to women, minorities and persons with disabilities when selecting participants.