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年戈登CAG三联体重复疾病研究会议将汇集来自 在世界各地讨论对CAG三联体重复疾病的新的高影响研究。CAG家族 三重重复疾病包括亨廷顿病(HD)、脊髓小脑性共济失调(SCAS)1、2、3、6、7、12 17例为脊髓性和延髓性肌萎缩症(SBMA)和齿状丘脑苍白球萎缩症(DRPLA)。这些 疾病是一大群神经和神经肌肉疾病的子集，这些疾病是由不同的 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。这次会议将汇集领先的资深和正在崛起的初级研究人员， 拥有来自相关领域的广泛专家，与CAG重复调查高度相关 这将有助于减少疾病，促进发言者和讨论带头人的多样性。这是这一年的第十一次会议 在动态和快速发展的研究领域取得成功的系列，现在正在从机械开发治疗方法 对这些目前难以治愈的疾病的研究。基因研究正在揭示共同的机制，可能 这种类型的多种疾病与每种疾病的特定方面的机制一起奠定了基础。 这些常见的机制似乎延伸到非CAG/CTG重复障碍，我们将纳入这些 到程序中，在那里他们可以解释常见的机制。我们更好地定义机制的能力 支撑疾病反过来又允许将这些无法治愈的疾病转化为新的治疗方法。这个 这次会议的多发病性质允许从一种疾病到另一种疾病的研究交叉受精 提升研究进展。我们将在2019年会议成功举行的基础上，举行两次 研究这一领域的新科学研究如何导致新的疾病修正疗法的会议 在CAG三联体重复障碍中，以及这些是如何在临床试验中提供的。治疗也将是一种 令人兴奋的开幕式主题演讲的焦点。我们将评估重复疾病的遗传学，这些疾病涉及 DNA处理是跨越重复疾病的重要机制。我们将研究重复基因座的动力学 在基因组中，其机制涉及多个重复疾病，并调查 我们可以从其他重复紊乱中学习。将有一个GRS，它将把高级职业生涯和早期职业生涯结合在一起 科学家，并包括导师的组成部分。了解CAG重复序列的分子基础 疾病将使开发新的诊断和治疗战略成为可能。翻译将是 在基础科学家、转化研究人员和临床研究人员的共同鼓励下，包括 临床试验。总而言之，我们正在开发一个令人兴奋的科学计划，强调新兴主题 CAG重复紊乱的致病机制，以及新的诊断技术，以及潜在的 改变疾病的治疗方法。