2009 CAG Triplet Repeat Disorders Gordon Research Conference

申请者描述(由申请人提供)：本申请申请资助将于2009年5月31日至6月5日在新罕布夏州沃特维尔山谷度假村举行的2009年戈登CAG三联体重复疾病研究会议，以及将于2009年5月30日至31日举行的相关研究生研究研讨会。这将是戈登关于CAG三联体重复疾病的第五次研究会议，之前的四次会议在美国(曼荷莲学院，2001和2005)和欧洲(Il Ciocco，意大利2003和Aussois，法国2007)之间交替举行。这是第一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。自从基因缺陷被确认以来，人们对这些疾病的发病机制有了重大的了解，从而使治疗干预措施的开发现在成为现实。为了加快基础研究发现的步伐，并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类临床试验等不同学科的科学家之间建立合作项目至关重要。CAG三联体重复疾病会议将聚集年轻的研究人员和知名的资深科学家，就科学的前沿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。公共卫生相关性：2009年戈登CAG三联体重复疾病研究会议及其相关的研究生研究研讨会将把研究人员和临床医生聚集在一起，讨论关于这些破坏性神经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的出席和加强教育，包括研究生、博士后研究员和初级教员。

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.