2011 CAG Triplet Repeat Disorders GRC/GRS
2011 CAG 三联体重复疾病 GRC/GRS
基本信息
- 批准号:8125467
- 负责人:
- 金额:$ 2万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2011
- 资助国家:美国
- 起止时间:2011-04-01 至 2012-03-31
- 项目状态:已结题
- 来源:
- 关键词:AmericanBasic ScienceBiochemistryCAG repeatCellsClinicClinicalClinical TrialsCodeCollaborationsCritiquesDataDentatorubropallidoluysian atrophy pathwayDevelopmentDisabled PersonsDisciplineDiseaseDrosophila genusEducationEnsureEnvironmentEuropeanEvaluationFacultyFosteringFranceFundingGenesGeneticGenomeGoalsHumanHuman GeneticsHuntington DiseaseIndividualInheritedInterdisciplinary StudyItalyJournalsKennedy SyndromeMentorsMicrosatellite InstabilityMindMinorityMolecularMolecular GeneticsMolecular and Cellular BiologyMutationNatureNerve DegenerationNeurologyNeuronsOrganic ChemistryPaperParticipantPathogenesisPathologicPathologistPathologyPostdoctoral FellowProteinsPublishingRNARequest for ApplicationsResearchResearch PersonnelResortResourcesRoleScienceScientistSenior ScientistSiteSocial InteractionStructureStudy SectionTherapeutic InterventionThinkingTimeTrainingTrinucleotide RepeatsType 1 Spinocerebellar AtaxiaUpdateWomanWorkWritingbasecareercollegegraduate studenthuman diseaseinnovationinsightlecturesmeetingsmembermutantnervous system disorderneuropathologynovelpeerplanetary Atmospherepolyglutaminepostersprogramsspinal and bulbar muscular atrophystemsymposiumtreatment strategy
项目摘要
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.
描述(由申请人提供):本申请要求为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研究生研究研讨会提供资金。这将是第六次关于CAG三重重复障碍的戈登研究会议。前五次会议在美国(霍利奥克山学院,2001年,2005年;沃特瓦利NH,2009年)和欧洲(Il Ciocco,意大利2003年和Aussois,法国2007年)网站之间交替举行。这是第二年,将有一个相关的研究生研究研讨会。 CAG三重重复序列疾病是一组很大程度上无法治疗的遗传性神经系统疾病,其由突变基因中CAG三核苷酸重复序列的扩增引起。这组疾病包括亨廷顿氏病(HD)、脊髓延髓肌萎缩症(SBMA,肯尼迪氏病)、1、2、3、6、7和17型脊髓小脑共济失调和齿状核红核苍白球路易体萎缩症(DRPLA)。在每种情况下,CAG重复序列位于基因的编码区内,并导致突变蛋白内异常长的多聚谷氨酰胺段。潜在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。选择性神经元变性的解剖分布的差异也使得必须解开的区别因素。自从遗传缺陷被发现以来,人们对这些疾病的发病机制有了重要的认识。该领域已经取得了进展,使得治疗干预的发展现在成为现实。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,将基础科学转移到临床,需要多学科的研究工作。从有机化学和果蝇遗传学到神经学和人体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。关于CAG三重重复障碍的会议将聚集年轻的研究人员和资深科学家,就科学前沿发表发人深省的演讲。为了与戈登研究会议的形式保持一致,将有大量的时间分配给同行领导的结构化讨论和非正式讨论和社交互动,以促进合作。重点放在青年科学家的培训和指导上,并将把时间用于职业问题。所有参与者都将被要求展示海报。在挑选参与者时,将优先考虑妇女、少数民族和残疾人。
公共卫生关系:2011年戈登研究会议的CAG三重重复障碍及其相关的研究生研究研讨会将汇集研究人员和临床医生讨论尖端信息的疾病机制和治疗干预这些毁灭性的神经系统疾病。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,包括研究生,博士后研究员和初级教师的出席和加强教育。
免责声明:请注意,以下评论由审查员在研究部分会议之前准备,并以基本上未经编辑的形式提供。 虽然审查人员有机会根据小组讨论情况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人评论。 因此,这些评论可能并不完全反映小组讨论结束时单个评审员的最终意见或小组的最终多数意见。因此,讨论的简历和摘要是评审员在会议上实际认为关键的最后一句话。
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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Laura P.W Ranum其他文献
Laura P.W Ranum的其他文献
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