2011 CAG Triplet Repeat Disorders GRC/GRS

申请者描述(由申请人提供)：本申请表申请资助将于2011年6月4日至10日在意大利巴尔加的Il Ciocco度假村举行的2011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六次研究会议。前五届会议轮流在美国(芒特霍利奥克学院，2001,2005；水谷NH，2009)和欧洲(Il Ciocco，意大利，2003和Aussois，法国，2007)两个地点举行。这是第二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。 公共卫生相关性：2011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，讨论关于这些毁灭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。 免责声明：请注意，以下批评是由评审员在研究小组会议之前准备的，基本上是以未经编辑的形式提供的。虽然审查员有机会根据小组的讨论更新或修订其书面评价，但不能保证在会议讨论之后更新了个别批评意见。因此，这些评论可能不能完全反映个别评审员在小组讨论结束时的最终意见或小组的最终多数意见。因此，讨论纪要和总结是审查员在会议上实际上认为至关重要的最后结论。

DESCRIPTION (provided by applicant): This application requests funding for the 2011 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 June 4-10, 2011. This will be the sixth Gordon Research Conference on CAG Triplet Repeat Disorders. The previous five conferences have alternated between American (Mount Holyoke College, 2001, 2005; Watervalley NH, 2009) and European (Il Ciocco, Italy 2003 and Aussois, France 2007) sites. This is the second 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 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. Priority will be given to women, minorities and persons with disabilities when selecting participants. PUBLIC HEALTH RELEVANCE: The 2011 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. Disclaimer: Please note that the following critiques were prepared by the reviewers prior to the Study Section meeting and are provided in an essentially unedited form. While there is opportunity for the reviewers to update or revise their written evaluation, based upon the group's discussion, there is no guarantee that individual critiques have been updated subsequent to the discussion at the meeting. Therefore, the critiques may not fully reflect the final opinions of the individual reviewers at the close of group discussion or the final majority opinion of the group. Thus the Resume and Summary of Discussion is the final word on what the reviewers actually considered critical at the meeting.