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.

摘要 2023年关于CAG三重重复障碍的戈登研究会议将聚集来自 世界各地讨论CAG三重重复障碍的新的高影响力研究。CAG家族 三联重复疾病包括亨廷顿病（HD）、脊髓小脑共济失调（SCA）1、2、3、6、7、12 脊髓延髓肌萎缩症（SBMA）和齿状核红核苍白球路易体萎缩症（DRPLA）17例。这些 疾病是由各种原因引起的更大组神经和神经肌肉疾病的子集。 微卫星重复扩增。会议的目的是促进跨学科的交流， 信息和方法。会议将汇集领先的高级和新兴的初级研究人员， 与广泛的专家从相关领域与高相关性的调查CAG重复 疾病，并促进演讲者和讨论领导者的多样性。这是第十一届大会， 在一个充满活力和快速发展的研究领域的成功系列，现在从机械治疗 研究这些目前难以治愈的疾病。遗传学研究揭示了可能 支持多种这类疾病，以及支持每种疾病特定方面的机制。 这些共同的机制似乎延伸到非CAG/CTG重复障碍，我们将纳入这些 在这个项目中，他们可以阐明共同的机制。我们更好地定义机制的能力 反过来又允许转化为针对这些无法治愈的疾病的新疗法。的 这次会议的多疾病性质允许从一种疾病到另一种疾病的研究交叉施肥， 促进研究进展。我们将在2019年会议成功召开的基础上， 研讨会探讨该领域的新科学研究如何导致新的疾病修饰疗法 在CAG三联体重复疾病中的作用，以及这些在临床试验中是如何传递的。治疗也将是一个 我们激动人心的开幕主题演讲的焦点。我们将评估重复性疾病的遗传学， DNA处理是重复序列疾病的重要机制。我们将研究重复基因座的动力学 在基因组中，其机制涉及多种重复疾病，并调查 我们可以从其他重复障碍中学习。将有一个GRS，这将汇集高级和早期的职业生涯 科学家，并包括一个导师组成部分。了解CAG重复序列的分子基础 这些疾病将有助于开发新的诊断和治疗策略。翻译将是 鼓励基础科学家，转化研究人员和临床研究人员的结合，包括 临床试验总之，我们正在开发一个令人兴奋的科学计划，强调新兴的主题 在CAG重复疾病的致病机制，以及新的诊断技术，并可能 改善疾病的治疗方法。