5th International Symposium on Urea Cycle Disorders

第五届尿素循环障碍国际研讨会

• 批准号: 10318463
• 负责人: Andrea Lynne Gropman
• 金额: $ 2.45万
• 依托单位: CHILDREN'S RESEARCH INSTITUTE
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-08-05 至 2023-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10318463
• 关键词: Acceleration; Affect; Ammonia; Applications Grants; Australia; Basic Science; Biological Markers; Blood; Brain; Brain Injuries; Cessation of life; Clinical; Clinical Management; Clinical Research; Clinical Trials; Collaborations; Coma; Communication; Communities; Congresses; Country; Development; Early Diagnosis; Enzymes; European; Event; Fostering; Foundations; Funding; Hour; Hybrids; Inborn Errors of Metabolism; Individual; Inherited; International; Intoxication; Journals; Lead; Medicine; Mentors; Metabolic Diseases; Metabolism; Molecular Genetics; Morbidity - disease rate; Natural History; Neuraxis; Neurocognitive; Participant; Patient-Focused Outcomes; Patients; Persons; Postdoctoral Fellow; Public Health; Publishing; Registries; Relationship-Building; Request for Applications; Research; Research Personnel; Resources; Science; Students; Time; Training; Travel; Underrepresented Populations; United States National Institutes of Health; Urea cycle disorders; clinical practice; data sharing; improved outcome; insight; interest; liver injury; meetings; next generation; novel therapeutic intervention; novel therapeutics; patient advocacy group; posters; public health relevance; symposium; urea cycle; virtual; virtual platform

Project Description/Abstract A urea cycle disorder (UCD) is an inborn error of metabolism caused by a deficiency of one of the enzymes or transporters in the urea cycle, which is responsible for removing ammonia from the blood and brain. Ammonia is toxic to the central nervous system and its accumulation can lead to coma and death in the short term, and brain damage to those who survive hyperammonemic (HA) events. In recent years, morbidity has decreased; however, neurocognitive effects and potential liver damage have emerged as major clinical features. There is currently no cure, although novel therapies have improved the outcome for many affected individuals. This R13 conference grant application requests funding for the 5th International Symposium on Urea Cycle Disorders, to take place from September 22-24, 2021 virtually as a satellite symposium to the 14th International Congress on Inborn Errors of Metabolism (ICIEM), which will be held as a hybrid conference, virtually and in-person, in Sydney, Australia, from November 21-23, 2021. The scientific symposium, titled, “Mapping Progress: Current Concepts and New Insights in Urea Cycle Disorders”, will be organized by the Urea Cycle Disorders Consortium (UCDC), the European Registry and Network for Intoxication Type Metabolic Diseases (E-IMD), and the National Urea Cycle Disorders Foundation (NUCDF) patient advocacy group. UCD Satellite Symposia to the ICIEM Conference were held previously in in Vienna in 1997, Sydney in 2003, La Jolla in 2009, and Barcelona in 2013. Proceedings from these symposia were published in the Journal for Inherited Metabolic Disease and Molecular Genetics and Metabolism. Interest and participation have increased with each meeting with 265 attendees in 2013. We expect 400-500 participants to attend the 2021 virtual symposium. NIH support will help the UCDC continue this tradition, bringing together UCD experts from around the world to share research discoveries and encourage and accelerate collaborative research. Trainees will be encouraged to attend the conference to supplement their training, participate in mentoring sessions, and submit abstracts to share their research with leaders in the UCD field. The virtual platform will help expand engagement with partners from around the globe, including under-resourced countries, to share in exchange of best clinical practices and research. The proposed symposium will be divided into three sessions on consecutive days for approximately three hours each day. The sessions will focus on 1) clinical management and patient outcomes around the globe 2) biomarkers and pathophysiological insights suggesting novel therapeutic approaches and, 3) early detection and new treatment principles. Time is allocated for discussion using interactive virtual network sessions and a poster session. Proceedings will be published by Molecular Genetics and Metabolism.

项目描述/摘要 尿素循环障碍（UCD）是一种先天性代谢缺陷，由缺乏一种 尿素循环中的酶或转运蛋白，负责从血液中去除氨， 个脑袋氨对中枢神经系统有毒，其积累可导致昏迷和死亡 在短期内，和脑损伤那些谁生存高氨血症（HA）事件。近年来， 发病率下降;然而，神经认知影响和潜在的肝损伤已经出现， 主要临床特征。目前还没有治愈的方法，尽管新的治疗方法已经改善了结果 对于许多受影响的人来说。 此R13会议资助申请要求资助第五届尿素国际研讨会 周期紊乱，将于2021年9月22日至24日举行，实际上是第14届卫星研讨会 国际先天性代谢缺陷大会（ICIEM）将作为混合会议举行， 虚拟和面对面，在悉尼，澳大利亚，从2021年11月21日至23日。科学研讨会，题为， “绘图进展：尿素循环障碍的当前概念和新见解”，将由 尿素循环障碍联盟（UCDC），欧洲登记和网络中毒类型 代谢疾病（E-IMD）和国家尿素循环障碍基金会（NUCDF）患者 宣传组。 UCD卫星研讨会的ICIEM会议举行了以前在维也纳于1997年，悉尼于 2003年，2009年的拉霍亚，2013年的巴塞罗那。这些专题讨论会的会议记录发表在 遗传性代谢疾病与分子遗传学和代谢杂志。兴趣和参与 2013年，每次会议都有265名与会者。预计将有400-500人参加 2021年虚拟研讨会NIH的支持将有助于UCDC继续这一传统，将UCD 来自世界各地的专家分享研究发现，鼓励和加速合作 research.我们鼓励学员参加会议，以补充他们的培训， 指导会议，并提交摘要，与UCD领域的领导者分享他们的研究。虚拟 该平台将有助于扩大与来自地球仪的伙伴的接触，包括资源不足的伙伴 各国，以分享交流最佳临床实践和研究。 拟议的专题讨论会将分为三个会议，连续举行， 每天三小时。会议将重点关注1）临床管理和患者结局， 地球仪2）生物标志物和病理生理学见解提示新的治疗方法，3）早期 检测和新的治疗原则。利用交互式虚拟网络分配时间进行讨论 会议和海报会议。论文集将由《分子遗传学与代谢》出版。