Urea Cycle Disorders Satellite Symposium: 11th International Meeting

描述（由申请人提供）：本申请请求支持科学会议，“克服障碍-尿素循环障碍的新发展和未来方向”，第11届先天性代谢缺陷国际大会的卫星研讨会。 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国家尿素循环障碍基金会执行主任辛西娅·勒蒙斯，医学博士斯蒂芬·塞德鲍姆，精神病学和儿科学教授，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，哲学博士、贝勒医学院分子遗传学教授和霍华德休斯医学研究所研究员。 本次研讨会实现了国家尿素循环障碍基金会的承诺，该基金会是世界上唯一一个专注于尿素循环障碍（UCD）的患者倡导组织，旨在发起和支持研讨会，以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是先天性代谢缺陷，导致血液和大脑中有毒氨（蛋白质代谢的废物）的积累。 这些复杂的疾病与高发病率和死亡率有关。 有严重缺陷的存活新生儿会遭受发育障碍，并面临致命危机的风险增加。 慢性和急性发作的高血氨症的儿童部分缺陷的认知和神经功能缺损的结果。 研讨会将集中在令人兴奋的UCD研究的最新进展，提供了新的见解到疾病的病理生理学。 这些进展将为未来开发迫切需要的介入疗法提供基础，以治疗UCD并防止其对大脑功能的灾难性影响。 第一次，神经科学家和专家在UCD将聚集在一起，专注于复杂的神经学问题，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，临床和治疗研究中进行的新研究。 研讨会的总体目标是：1）识别和克服进步的障碍，2）分享新信息并挑战现有范式，3）鼓励创新的多学科合作，4）激励年轻的研究人员到该领域，5）激发催化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。 外联工作将特别注重鼓励多样性和医学生，居民，博士后研究员和初级教师的参与，以及倡导者，临床医生和科学家在该领域的历史代表性不足。 项目叙述：这次卫星研讨会将突出新的进展，并鼓励扩大和加速研究，以改善尿素循环障碍患者的结果。 重点合作尿素循环障碍对脑功能的复杂神经影响，也可能有助于增加对其他疾病的神经功能障碍的理解。

DESCRIPTION (Provided by Applicant): 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. PROJECT NARRATIVE: This satellite symposium will highlight new advances and encourage expansion and acceleration of research to improve the outcome of patients with urea cycle disorders. Focused collaboration on the complex neurological effects of urea cycle disorders on brain function may also contribute to increased understanding of neurologic dysfunction in other disorders.