Urea Cycle Disorders Satellite Symposium: 11th International Meeting

申请者描述(由申请人提供)：本申请请求支持第11届国际新陈代谢错误大会的卫星研讨会“克服障碍-尿素循环障碍的新进展和未来方向”的科学会议。研讨会将于2009年8月27-29日在加利福尼亚州拉霍亚的Estancia酒店会议中心举行。研讨会的联合首席研究员是国家尿素周期障碍基金会执行主任辛西娅·勒蒙斯、加州大学洛杉矶分校智力和发育障碍研究中心精神病学和儿科学教授兼临床研究副主任斯蒂芬·塞德鲍姆医学博士、分子遗传学教授布伦丹·李博士和贝勒医学院霍华德·休斯医学研究所研究员。这次研讨会落实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只关注尿素循环障碍(UCD)的患者倡导组织，该基金会发起和支持研讨会，鼓励和加快合作研究，以挽救和改善受这种罕见疾病影响的患者的生活。这些复杂的疾病与高发病率和死亡率有关。存活下来的患有严重缺陷的新生儿患有发育障碍，并面临更高的致命危机风险。有部分缺陷的儿童慢性和急性高氨血症会导致认知和神经缺陷。研讨会将集中在UCD研究方面令人兴奋的最新进展，这些研究为该病的病理生理学提供了新的见解。这些进展将为未来开发急需的介入疗法治疗UCD并防止其对大脑功能的灾难性影响提供基础。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UCDs的基础、翻译、临床和治疗研究方面正在进行的新研究。研讨会的总体目标是1)确定和克服取得进展的障碍，2)分享新信息和挑战现有范式，3)鼓励创新的多学科合作，4)激励年轻研究人员进入该领域，5)激发促进有目的的进步和加速研究的想法。美国和国际与会者将包括分子和临床遗传学家、儿科代谢专家、神经科学家、神经发展学家、肝病学家、临床和研究护士、代谢营养学家和遗传顾问。外展工作将特别侧重于鼓励多样性，鼓励医学生、住院医生、博士后研究员和初级教员以及倡导者、临床医生和科学家的参与，这些人在该领域的代表性历来较低。 项目简介：这次卫星研讨会将突出新的进展，并鼓励扩大和加快研究，以改善尿素循环障碍患者的结局。将重点放在尿素循环障碍对大脑功能的复杂神经影响上的合作也可能有助于加深对其他障碍中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.