2023 CAG Triplet Repeat Disorders Gordon Research Conference and Seminar

2023年CAG三重重复疾病戈登研究会议暨研讨会

• 批准号: 10682090
• 负责人: VANESSA C WHEELER
• 金额: $ 1.5万
• 依托单位: GORDON RESEARCH CONFERENCES
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-04-01 至 2024-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10682090
• 关键词: Area; Atmosphere; Basic Science; Bioinformatics; Biology; Brain; CAG repeat; Cells; Clinic; Clinical; Clinical Data; Clinical Trials; Collaborations; DNA; DNA Repair; Data; Dentatorubral-Pallidoluysian Atrophies; Development; Diagnostic Procedure; Discipline; Disease; Drug Design; Environment; Family; Female; Fertilization; Fostering; Foundations; Functional disorder; Future; Genes; Genetic; Genetic Diseases; Genetic Research; Genetic study; Genome; Hearing; Human; Huntington Disease; International; Investigation; Journals; Learning; Medical Research; Mentorship; Microsatellite Repeats; Mind; Modernization; Molecular; Molecular Genetics; Molecular and Cellular Biology; Nature; Neurology; Neuromuscular Diseases; Neurons; Oral; Pathogenicity; Pathologist; Publications; Publishing; RNA; Reporting; Research; Research Personnel; Science; Scientist; Series; Structural Biologist; Therapeutic; Time; Translations; Trinucleotide Repeats; Triplet Multiple Birth; Type 1 Spinocerebellar Ataxia; Work; biomarker development; career; data submission; meetings; nervous system disorder; new technology; new therapeutic target; novel; novel diagnostics; novel marker; novel sequencing technology; novel therapeutic intervention; novel therapeutics; posters; programs; single cell sequencing; small molecule; spinal and bulbar muscular atrophy; symposium; therapeutic target; translational scientist; treatment strategy

Abstract The 2023 Gordon Research Conference on CAG Triplet Repeat Disorders will gather leading scientists from around the world to discuss novel high-impact research on CAG Triplet Repeat Disorders. The family of CAG triplet repeat diseases includes Huntington's disease (HD), the spinocerebellar ataxias (SCAs) 1, 2, 3, 6, 7, 12 and 17, spinal and bulbar muscular atrophy (SBMA) and dentatorubral pallidoluysian atrophy (DRPLA). These diseases are a subset of a larger group of neurological and neuromuscular disease caused by various microsatellite repeat expansions. The objective of the conference is to promote interdisciplinary exchange of information and approaches. The conference will bring together leading senior and rising junior researchers, with a broad range of experts from interrelated areas with high relevance to the investigation of CAG repeat diseases, and foster diversity of speakers and discussion leaders. This is the eleventh conference in this very successful series in a dynamic and fast-moving research field, now developing treatments from mechanistic research for these currently intractable diseases. Genetic research is revealing common mechanisms that may underpin multiple diseases of this type alongside mechanisms that underpin specific aspects of each disease. Such common mechanisms appear to extend to non-CAG/CTG repeat disorders and we shall incorporate these into the program where they can illuminate common mechanisms. Our ability to better define the mechanisms underpinning disease is in turn allowing the translation to novel therapies for these untreatable diseases. The multiple-disease nature of this conference allows cross-fertilization of research from one disease to another to enhance research progress. We will build on the successful session in the 2019 conference by having two sessions examining how the new scientific research in this field is leading to novel disease-modifying therapies in the CAG triplet repeat disorders, and how these are being delivered in clinical trials. Treatments will also be a focus of our exciting opening keynote session. We will assess the genetics of repeat disorders that implicate DNA handling as an important mechanism across repeat disorders. We will examine the dynamics of repeat loci in the genome, the mechanisms of which are implicated across multiple repeat disorders, and investigate what we can learn from other repeat disorders. There will be a GRS, which will bring together senior and early career scientists and include a mentorship component. Understanding the molecular foundations of CAG repeat diseases will enable the development of new diagnostic and therapeutic strategies. Translation will be encouraged by the combination of basic scientists, translational researchers and clinical researchers, including clinical trials. In summary, we are developing an exciting scientific program that emphasizes emerging themes in pathogenic mechanisms of the CAG repeat disorders, as well as novel diagnostic techniques, and potentially disease-modifying therapeutic approaches.

抽象的 2023年戈登CAG三胞胎重复疾病的研究会议将收集来自 在世界各地讨论有关CAG三胞胎重复疾病的新型高影响力研究。 CAG家族 三胞胎重复疾病包括亨廷顿氏病（HD），脊椎小脑共济失调（SCAS）1、2、3、6、7、12 和17，脊柱和鳞茎肌肉萎缩（SBMA）和牙齿牙周乳腺pallidoluysian萎缩（DRPLA）。这些 疾病是由各种神经系统和神经肌肉疾病的一组子集 微卫星重复扩展。会议的目的是促进跨学科交流 信息和方法。该会议将汇集领先的高级研究人员和崛起的初级研究人员 从相互关联的领域有广泛的专家，与调查CAG重复相关 疾病，促进演讲者和讨论领导者的多样性。这是第十一个会议 在动态和快速的研究领域中成功的系列，现在开发了机械的治疗方法 研究这些目前棘手的疾病。遗传研究揭示了可能的常见机制 基于这种类型的多种疾病以及基于每种疾病特定方面的机制。 这种常见的机制似乎扩展到非CAG/CTG重复疾病，我们将结合起来 进入可以照亮共同机制的程序。我们更好地定义机制的能力 基础疾病反过来允许转化为这些不可治疗疾病的新疗法。这 本次会议的多种疾病性质允许从一种疾病到另一种疾病的研究交叉施用 增强研究进度。我们将通过有两个 会议研究该领域的新科学研究如何导致新型疾病改良疗法 在CAG三胞胎重复疾病中，以及如何在临床试验中提供这些疾病。治疗也将是 我们激动人心的开幕主题会议的重点。我们将评估牵连的重复疾病的遗传学 DNA处理是重复疾病的重要机制。我们将检查重复基因座的动态 在基因组中，其机制与多种重复疾病有关，并研究什么 我们可以从其他重复疾病中学习。将会有一个GRS，这将汇集高级和早期职业 科学家，包括指导组成部分。了解CAG重复的分子基础 疾病将使新的诊断和治疗策略发展。翻译将是 受到基础科学家，翻译研究人员和临床研究人员的组合的鼓励，包括 临床试验。总而言之，我们正在制定一个令人兴奋的科学计划，该计划强调新兴的主题 在CAG重复疾病以及新型诊断技术的病原机制中 改良疾病的治疗方法。