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）：本申请要求为2003年戈登CAG三胞胎重复疾病的2003年戈登研究会议提供资金，将于2003年5月4-9日在意大利巴尔加市II Ciocco举行。这将是第二次戈登CAG重复疾病研究会议，第一次在美国马萨诸塞州霍利诺克市举行。在过去的十年中，发现引起主要的遗传神经系统疾病的突变是CAG三胞胎重复扩张。到目前为止，这一组疾病包括亨廷顿氏病，脊椎小脑共济失调1、2、2、3、6、7和17，脊髓和鳞茎肌肉萎缩以及牙齿牙周腹膜pallidoluysian萎缩。在每种情况下，CAG重复都位于基因的编码区域内，并在突变蛋白中产生异常长的多谷氨酰胺道。潜在遗传学和神经病理学的相似性表明，发病机理具有共同特征。但是，这些疾病导致神经元在大脑和脊髓中选择性丧失的解剖学分布不同，因此，区分它们的因素也需要揭示。由于鉴定了遗传缺陷，因此已经获得了这些疾病的发病机理的重要见解。该领域的发展在某种程度上是理性治疗剂的发展即将到来。为了提高基础研究的步伐，同时设定了将基础科学转移到诊所所需的联系和临床资源，需要进行多学科研究工作。必须建立从有机化学，果蝇遗传学到临床神经病学的各种专业的科学家之间的合作项目。这次有关CAG三胞胎重复疾病的会议将聚集年轻的调查员，并建立了高级科学家，以发表有关科学尖端的令人发指的讲座。为了符合Gordon研究会议格式，将为同龄人领导的结构性讨论以及非正式的讨论和社交互动以促进合作而有慷慨的时间。强烈重视年轻科学家的培训和指导，时间将致力于职业问题。所有参与者（演讲者和讨论者除外）都需要出示海报。在选择参与者时，将优先考虑妇女，少数民族和残疾人。