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）：本申请请求资助将于 2003 年 5 月 4-9 日在意大利巴尔加 II Ciocco 举行的 2003 年关于 CAG 三联体重复疾病的戈登研究会议。这将是第二届关于 CAG 的戈登研究会议重复障碍，第一届于 2001 年在美国马萨诸塞州曼荷莲学院举行。在过去十年中，人们发现导致一大类遗传性神经系统疾病的突变是 CAG 三联体重复扩增。到目前为止，这组疾病包括亨廷顿病、脊髓小脑共济失调1、2、3、6、7和17、脊髓和延髓肌萎缩症以及齿状红核苍白卢伊西亚萎缩症。在每种情况下，CAG 重复都位于基因的编码区内，并导致突变蛋白中出现异常长的聚谷氨酰胺束。潜在遗传学和神经病理学的相似性表明发病机制具有共同特征。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阐明。自从发现遗传缺陷以来，人们对这些疾病的发病机制有了重要的了解。该领域已经取得了一定程度的进展，理性疗法的发展即将到来。为了加快基础研究的步伐，同时建立将基础科学转化为临床所需的联系和临床资源，需要多学科的研究努力。来自有机化学、果蝇遗传学和临床神经病学等不同专业的科学家之间建立合作项目至关重要。这次关于 CAG 三联体重复疾病的会议将聚集年轻的研究人员和资深科学家，就前沿科学发表发人深省的讲座。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主导的结构化讨论以及非正式讨论和社交互动以促进合作。我们非常重视对年轻科学家的培训和指导，并将投入时间解决职业问题。所有参与者（演讲者和讨论者除外）都必须展示海报。选择参与者时将优先考虑妇女、少数民族和残疾人。