CAG Triplet Repeat Disorders

申请者描述(由申请人提供)：本申请书申请资助将于2013年6月22日至28日在华盛顿州沃特维尔山谷的沃特维尔山谷度假村举行的2013年CAG三联体重复疾病戈登研究会议和相关的研究生研究研讨会。这将是戈登关于CAG三联体重复疾病的第七次研究会议。之前的五届会议轮流在美国(芒特霍利奥克学院，2001,2005；沃特维尔山谷NH，2009,2013)和欧洲(Il Ciocco，意大利，2003,2011和Aussois，法国，2007)两个地点举行。这是第三年将有一个相关的研究生研究研讨会。CAG三联重复疾病是一组基本无法治疗的遗传性神经疾病，其原因是突变基因中CAG三核苷酸重复序列的扩大。这组疾病包括亨廷顿病(HD)、脊髓和延髓肌肉萎缩(SBMA、肯尼迪病)、1型、2型、3型、6型、7型和17型脊髓小脑性共济失调，以及齿状苍白质脑萎缩(DR解放军)。在每种情况下，CAG重复位于基因的编码区内，并导致突变蛋白内异常长的聚谷氨酰胺链。潜在的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。选择性神经元变性在解剖分布上的差异也使我们有必要揭示其区别因素。自从基因缺陷被发现以来，人们对这些疾病的发病机制有了很大的了解。这一领域已经取得了进展，治疗干预措施的开发现在已经成为现实。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，将基础科学带入临床，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类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三联体重复疾病会议将聚集年轻的研究人员和资深科学家，就尖端科学发表引人入胜的演讲。按照戈登研究会议的形式，将分配大量时间用于由同行领导的结构化讨论以及非正式讨论和社会互动，以促进合作。非常重视对年轻科学家的培训和指导，并将把时间投入到职业问题上。所有参赛者将被要求出示海报。在选择参与者时，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 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.