2019 Lysosomal Diseases Gordon Research Conference and Seminar

2019年溶酶体疾病戈登研究会议暨研讨会

• 批准号: 9760992
• 负责人: Beverly L. Davidson
• 金额: $ 1万
• 依托单位: GORDON RESEARCH CONFERENCES
• 依托单位国家: 美国
• 财政年份: 2019
• 资助国家: 美国
• 起止时间: 2019-03-01 至 2020-02-29
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9760992
• 关键词: Address; Advanced Development; Affect; Animals; Asia; Automobile Driving; Big Data; Biological Models; Biology; Calendar; Canada; Categories; Cessation of life; Chronic Disease; Clinical; Communities; Complement; Country; Data; Defect; Devices; Diagnosis; Discipline; Disease; Disease Outcome; Enzymes; Equilibrium; Europe; Faculty; Fees; Fertilization; Functional disorder; Funding; Genetic; Goals; Health; Human; Impairment; Individual; Industry; Inherited; Innovative Therapy; International; Knowledge; Laboratories; Link; Live Birth; Lysosomal Storage Diseases; Lysosomes; Metabolic Diseases; Methods; Minority; Molecular; Natural History; Organism; Participant; Pathogenesis; Pathogenicity; Pathologic; Pathology; Pathway interactions; Patients; Play; Postdoctoral Fellow; Prevalence; Process; Proteins; Rare Diseases; Request for Applications; Research; Research Personnel; Role; Science; Scientist; Source; System; Systems Biology; Texas; Training; Translations; United States National Institutes of Health; Woman; Work; base; body system; design; effective therapy; experience; graduate student; innovation; meetings; men; next generation; novel therapeutics; posters; premature; prevent; programs; research and development; small molecule; standard care; symposium; therapy development; tool

Project Summary/Abstract Lysosomal diseases represent more than 70 disorders caused by inherited defects in a spectrum of organellar proteins; they affect many organ systems progressively to cause chronic illness and premature death. The Lysosomal Disease Gordon Research Conference (GRC) has played a crucial role in stimulating discoveries in this field. The 2019 Lysosomal Disease GRC/Gordon Research Seminar (GRS), held at the Hotel Galvez in Galveston, Texas, will offer a critical venue for addressing major topics in lysosomal biology, disease mechanisms, diagnosis and therapy, including (i) lysosomal systems biology, where `big data' is opening the door to genetic and cellular systems at play in the pathophysiology of disease: (ii) innovations in methods that reverse, rather than prevent or stabilize, pathogenesis, a critical advance as many individuals with these disorders come to light long after the pathology is established: (iii) emerging tools to study lysosomal diseases, at the cellular level and in the whole animal; (iv) mechanisms of pathogenesis in disorders that have recently been linked to lysosomal dysfunction; (v) progress in our understanding of lysosome-resident channels, a field that is emerging as critical to ascertaining how various deficiencies impair lysosome function; (vi) lysosome biology; and (vii) advances in clinical approaches focused on lysosomal disease. This conference is unique in the academic calendar and an outstanding complement to other existing lysosomal disease forums in USA and Europe. To address these topics we have invited, as speakers and discussants, 42 scientists and clinicians working in the lysosomal disease and related fields. Importantly, there is a mix of junior and senior investigators from many countries, and we made every effort to include women and minorities. Additionally, we have formatted this year's conference for an additional 12 speakers to be selected from the abstracts, giving us an excellent opportunity to balance the program among junior and senior investigators, women and men, and to encourage minority participants. Of the current program presented in the application, 95% have accepted our invitation. Based on historical data for this conference, we anticipate that approximately one-third of attendees (aside from invited speakers and discussants) will be junior investigators, postdoctoral fellows and graduate students, and all together there will be approximately 160 people focused on lysosome disease, from the science underlying the field to the translation of those findings to patients suffering from lysosomal disease. Finally, the associated GRS insures that the very best and the brightest of the next generation of lysosomal disease researchers will also be integrated within the GRC community. The discussion and cross fertilization of ideas and approaches occurring as part of the GRC and GRS meetings will accelerate our understanding of the role of the lysosomal system in health and in disease and continue to advance the development of effective therapies.

项目总结/摘要 溶酶体疾病代表了70多种由细胞器谱的遗传缺陷引起的疾病。 蛋白质;它们逐渐影响许多器官系统，导致慢性疾病和过早死亡。的 溶酶体疾病戈登研究会议（GRC）在刺激发现方面发挥了至关重要的作用 在该领域2019年溶酶体疾病GRC/戈登研究研讨会（GRS），在Galvez酒店举行 在德克萨斯州的加尔维斯顿，将为解决溶酶体生物学，疾病， 机制、诊断和治疗，包括（一）溶酶体系统生物学，“大数据”正在开放 在疾病的病理生理学中发挥作用的遗传和细胞系统的大门：（二） 逆转，而不是预防或稳定，发病机制的方法，一个关键的进步，因为许多 患有这些疾病的个体在病理学建立后很久才被发现：（iii）新兴的工具， 研究溶酶体疾病，在细胞水平和整个动物;（四）发病机制， 最近与溶酶体功能障碍有关的疾病;（v）我们对溶酶体功能障碍的理解进展 溶酶体驻留通道，这是一个新兴的领域，对于确定各种缺陷如何 溶酶体功能受损;（vi）溶酶体生物学;和（vii）临床方法的进展， 溶酶体病本次会议是独特的学术日历和突出的补充， 其他现有的溶酶体疾病论坛在美国和欧洲。为了解决这些问题，我们邀请了 发言者和讨论者，42名科学家和临床医生在溶酶体疾病和相关领域的工作。 重要的是，有来自许多国家的初级和高级调查人员，我们尽了一切努力， 包括妇女和少数民族。此外，我们还将今年的会议安排为另外12个会议， 演讲者将从摘要中选出，这给了我们一个很好的机会来平衡计划， 初级和高级调查员，妇女和男子，并鼓励少数民族参与。当前 在申请中提出的方案中，95%的人接受了我们的邀请。根据历史数据， 会议，我们预计，大约三分之一的与会者（除了受邀演讲者和 讨论者）将是初级研究人员，博士后研究员和研究生，所有人都将 大约有160人专注于溶酶体疾病，从该领域的科学基础到 将这些发现翻译给患有溶酶体疾病的患者。最后，相关的GRS确保 下一代最优秀最聪明的溶酶体疾病研究人员也将 融入了GRC社区。各种想法和方法的讨论和交流 作为GRC和GRS会议的一部分，这将加速我们对溶酶体作用的理解。 在健康和疾病的系统，并继续推进有效疗法的发展。