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):本申请申请为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CAG三重重复疾病的2011年戈登研究会议和相关的研究生研究研讨会提供资金。这将是第六届CAG三重重复疾病戈登研究会议。前五次会议轮流在美国(Mount Holyoke College, 2001年,2005年;Watervalley NH, 2009年)和欧洲(Il Ciocco, 2003年,意大利和Aussois, 2007年,法国)举行。这是第二年将有一个相关的研究生研究研讨会。CAG三联体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,其原因是突变基因中CAG三核苷酸重复序列的扩增。这类疾病包括亨廷顿氏病(HD)、脊髓和球性肌萎缩症(SBMA,肯尼迪病)、脊髓小脑共济失调1、2、3、6、7和17型,以及齿状体苍白球萎缩症(DRPLA)。在每种情况下,CAG重复序列位于基因的编码区域内,并导致突变蛋白内异常长的聚谷氨酰胺束。在潜在的遗传学和神经病理学上的显著相似性表明这些疾病之间有共同的病理机制。选择性神经元变性在解剖分布上的差异也使得有必要揭示其区别因素。由于遗传缺陷的鉴定,对这些疾病的发病机制有了重要的认识。该领域已经取得进展,治疗干预措施的发展现在已经成为现实。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,将基础科学推向临床,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体临床试验等不同学科的科学家之间建立合作项目是至关重要的。CAG三重重复障碍会议将聚集年轻的研究人员和资深科学家,就科学前沿发表令人振奋的演讲。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会互动,以促进合作。重点将放在对年轻科学家的培训和指导上,时间将用于职业问题。所有参与者都需要提交海报。在选择参加者时,将优先考虑妇女、少数民族和残疾人。
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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