Urea Cycle Disorders Satellite Symposium: 11th International Meeting

尿素循环障碍卫星研讨会：第十一届国际会议

• 批准号: 8331532
• 负责人: STEPHEN D CEDERBAUM
• 金额: $ 0.6万
• 依托单位: NATIONAL UREA CYCLE DISORDERS FOUNDATION
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-08-01 至 2013-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8331532
• 关键词: Acceleration; Acute; Address; Administrator; Advocate; Affect; Ammonia; Applications Grants; Attention; Basic Science; Blood Circulation; Blood Pressure; Brain; Brain Injuries; California; Cessation of life; Child; Child health care; Childhood; Chronic; Clinical; Clinical Nursing Research; Clinical Research; Clinical Trials; Cognitive; Collaborations; Communities; Complex; Congresses; Data; Defect; Development; Developmental Biology; Developmental Disabilities; Dietitian; Disease; Doctor of Medicine; Doctor of Philosophy; Exposure to; Extramural Activities; Faculty; Fostering; Foundations; Functional disorder; Funding; Future; Genetic; Health; Human Development; Hyperammonemia; Inborn Errors of Metabolism; Institutes; Intellectual functioning disability; Interdisciplinary Study; International; Intervention; Investigation; Lead; Letters; Liver diseases; Long-Term Effects; Medical; Medical Students; Medicine; Melissa; Metabolic; Metabolism; Mission; Molecular; Molecular Genetics; Morbidity - disease rate; National Institute of Child Health and Human Development; National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of Neurological Disorders and Stroke; Neurologic; Neurologic Dysfunctions; Newborn Infant; Outcome; Participant; Patient advocacy; Patients; Pediatrics; Perinatal; Policies; Postdoctoral Fellow; Principal Investigator; Professional counselor; Psychiatry; Publishing; Rare Diseases; Reaction; Request for Applications; Research; Research Design; Research Methodology; Research Personnel; Risk; Role; Science; Scientist; Specialist; Students; Text; Therapeutic; Time; Waste Products; abstracting; advocacy organizations; base; college; granite; improved; innovation; insight; meetings; mortality; outreach; prevent; professor; protein metabolism; symposium; urea cycle

This application requests support for the scientific meeting, "Overcoming Barriers-New Developments and Future Directions for Urea Cycle Disorders," a satellite symposium to the 11th International Congress on Inborn Errors of Metabolism. The symposium will be held on August 27-29, 2009 at the Estancia Hotel Conference Center in La Jolla, California. The co-principal investigators of the symposium are Cynthia Le Mons, Executive Director, National Urea Cycle Disorders Foundation, Stephen Cederbaum, M.D., Professor of Psychiatry and Pediatrics and Associate Director for Clinical Research, UCLA Intellectual and Developmental Disabilities Research Center, and Brendan Lee, M.D., Ph.D., Professor of Molecular Genetics, and Howard Hughes Medical Institute Investigator, Baylor College of Medicine. This symposium implements the commitment of the National Urea Cycle Disorders Foundation, the only patient advocacy organization in the world focusing solely on urea cycle disorders (UCD), to initiate and support symposia to encourage and accelerate collaborative research into advances that save and improve the lives of patients affected by this rare disorder. UCDs are inborn errors of metabolism resulting in an accumulation of toxic ammonia (a waste product of protein metabolism) in the bloodstream and brain. These complex disorders are associated with high morbidity and mortality rates. Surviving newborns with severe defects suffer developmental disability, and are at increased risk for fatal crises. Chronic and acute episodes of hyperammonemia in children with partial defects result in cognitive and neurological deficits. The symposium will focus on exciting recent advances in UCD research that provide new insights into the pathophysiology of the disorder. These advances will provide the basis for future development of desperately needed interventional therapies to treat UCD and prevent its catastrophic effects on brain function. For the first time, neuroscientists and experts in UCD will be brought together to focus on the complex neurologic issues and foster research collaborations to address them. The symposium will provide a rare forum for international researchers, clinicians, scientists, and junior faculty to share and discuss new research being conducted in basic, translational, clinical, and therapeutic investigations for UCDs. Overall objectives of the symposium are to 1) identify and overcome barriers to progress, 2) share new information and challenge existing paradigms, 3) encourage innovative multidisciplinary collaborations, 4) inspire young investigators to the field, and 5) stimulate ideas which catalyze purposeful advancement and acceleration of research. The U.S. and international participants will include molecular and clinical geneticists, pediatric metabolic specialists, neuroscientists, neurodevelopmentalists, hepatologists, clinical and research nurses, metabolic dietitians, and genetic counselors. Outreach efforts will particularly focus on encouraging diversity and the participation of medical students, residents, postdoctoral fellows, and junior faculty, as well as advocates, clinicians, and scientists historically underrepresented in the field.

本申请要求支持科学会议“克服障碍-尿素循环紊乱的新发展和未来方向”，这是第11届国际先天性代谢错误大会的卫星研讨会。研讨会将于2009年8月27日至29日在加州拉霍亚的埃斯坦西亚酒店会议中心举行。研讨会的共同主要研究者是Cynthia Le Mons，国家尿素循环障碍基金会执行主任，Stephen Cederbaum，医学博士，精神病学和儿科教授，加州大学洛杉矶分校智力和发育障碍研究中心临床研究副主任，Brendan Lee，医学博士，分子遗传学教授，贝勒医学院霍华德休斯医学研究所研究员。本次研讨会履行了国家尿素循环障碍基金会的承诺，该基金会是世界上唯一专注于尿素循环障碍（UCD）的患者倡导组织，发起并支持专题讨论会，鼓励和加速合作研究，以挽救和改善受这种罕见疾病影响的患者的生命。ucd是一种先天性代谢错误，导致有毒氨（蛋白质代谢的废物）在血液和大脑中积累。这些复杂的疾病与高发病率和高死亡率有关。存在严重缺陷的幸存新生儿患有发育障碍，并面临更大的致命危机风险。慢性和急性高氨血症发作的儿童部分缺陷导致认知和神经功能障碍。研讨会将集中讨论UCD研究的最新进展，为该疾病的病理生理学提供新的见解。这些进展将为未来迫切需要的介入治疗提供基础，以治疗UCD并防止其对脑功能的灾难性影响。UCD的神经科学家和专家将首次聚集在一起，专注于复杂的神经问题，并促进研究合作，以解决这些问题。研讨会将为国际研究人员、临床医生、科学家和初级教师提供一个难得的论坛，分享和讨论在ucd的基础、转化、临床和治疗研究方面进行的新研究。研讨会的总体目标是1)识别和克服进步的障碍，2)分享新的信息和挑战现有的范式，3)鼓励创新的多学科合作，4)激励年轻的研究者进入该领域，5)激发促进有目的的进步和加速研究的想法。美国和国际参与者将包括分子和临床遗传学家、儿科代谢专家、神经科学家、神经发育学家、肝病学家、临床和研究护士、代谢营养师和遗传咨询师。推广工作将特别侧重于鼓励医学生、住院医生、博士后研究员、初级教师以及在该领域历史上代表性不足的倡导者、临床医生和科学家的多样性和参与。