2003 Gordon Conference on CAG Triplet Repeat Disorders

2003 年关于 CAG 三联体重复疾病的戈登会议

• 批准号: 6597717
• 负责人: Michael S. Levine
• 金额: $ 4万
• 依托单位: GORDON RESEARCH CONFERENCES
• 依托单位国家: 美国
• 财政年份: 2003
• 资助国家: 美国
• 起止时间: 2003-05-01 至 2004-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6597717
• 关键词: gene mutation; meeting /conference /symposium; nervous system disorder; travel

DESCRIPTION (provided by applicant): This application requests funding for the 2003 Gordon Research Conference on CAG triplet repeat disorders to be held in II Ciocco, Barga, Italy, May 4-9, 2003. This will be the second Gordon Research Conference on CAG repeat disorders, the first was held in 2001 at Mount Holyoke College, MA, USA. During the last decade, the mutation that causes a major group of inherited neurological disorders was found to be a CAG triplet repeat expansion. So far, this group of diseases includes Huntington's disease, the spinocerebellar ataxias 1, 2, 3, 6, 7 and 17, spinal and bulbar muscular atrophy and dentatorubral pallidoluysian atrophy. In each case, the CAG repeat lies within the coding region of the gene and results in an abnormally long polyglutamine tract in the mutant protein. Similarities in the underlying genetics and neuropathology suggest that the mechanisms of pathogenesis share common features. However, these diseases result in different anatomical distributions of the selective loss of neurons in the brain and spinal cord, and therefore the factors that distinguish them also need to be unraveled. Since the identification of the genetic defects, significant insights have been gained into the pathogenesis of these diseases. The field has progressed to the extent that the development of rational therapeutics is on the horizon. In order to increase the pace of the basic research, and at the same time 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 specialties ranging from organic chemistry, fruit fly genetics to clinical neurology can be established. This 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 discussions and social interactions to facilitate collaborations. Strong emphasis is placed on training and mentoring of young scientists, and time will be devoted to career issues. All participants (except speakers and discussants) will be required to present posters. Priority will be given to women, minorities, and persons with disabilities when selecting participants.

描述(由申请人提供)：本申请申请为2003年5月4日至9日在意大利巴尔加的II Ciocco举行的2003年关于CAG三联体重复紊乱的戈登研究会议提供资金。这将是戈登第二次关于CAG重复紊乱的研究会议，第一次会议于2001年在美国马萨诸塞州芒特霍利克学院举行。在过去的十年中，导致一大批遗传性神经疾病的突变被发现是CAG三联体重复扩增。到目前为止，这组疾病包括亨廷顿氏病，脊髓小脑性共济失调1，2，3，6，7和17，脊柱和球肌肉萎缩和齿状丘脑苍白球萎缩。在每种情况下，CAG重复位于基因的编码区内，并导致突变蛋白中异常长的聚谷氨酰胺链。潜在的遗传学和神经病理学的相似性表明，发病机制有共同的特征。然而，这些疾病导致大脑和脊髓神经元选择性丢失的解剖分布不同，因此区分它们的因素也需要解开。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，理性疗法的发展即将到来。为了加快基础研究的步伐，同时建立必要的联系和临床资源，将基础科学转化为临床，需要多学科的研究努力。从有机化学、果蝇遗传学到临床神经学等不同专业的科学家之间的合作项目可以建立起来，这一点至关重要。这次关于CAG三联体重复障碍的会议将聚集年轻的研究人员和知名的资深科学家，在科学的尖端发表引人入胜的演讲。为了与戈登研究会议的形式保持一致，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。所有与会者(演讲者和讨论者除外)将被要求提交海报。在选择参与者时，将优先考虑妇女、少数群体和残疾人。