Urea Cycle Disorders Satellite Symposium to the 12th ICIEM

描述(申请人提供)：尿素循环障碍(UCD)是由于尿素循环中负责从血液和大脑中排出氨的一种酶的缺乏而引起的先天性新陈代谢错误。有毒的氨会积聚，导致昏迷和大脑损伤。非传染性疾病与高发病率和死亡率有关。存活下来的严重缺陷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。目前还没有治愈方法，尽管新的疗法改善了许多受影响的人的结果。此R13会议赠款申请申请资金，以帮助支持2013年9月2日在西班牙巴塞罗那举行的第12届国际先天性代谢错误大会(ICIEM)的尿素周期紊乱卫星研讨会。ICIEM大会将于2013年9月3日至7日举行，将吸引来自世界各地的UCD专家。为了利用这一机会，尿素循环障碍联合会将与欧洲中毒性代谢疾病登记和网络以及全国尿素循环障碍基金会患者倡导小组合作，举办一次题为“尿素循环障碍国际研讨会：促进新的治疗方法”的科学研讨会。1997年在维也纳、2003年在悉尼和2009年分别在维也纳、悉尼和拉霍亚举行了国际电工机械中心会议的UCD卫星专题讨论会。这些研讨会的会议记录发表在《遗传性代谢疾病和分子遗传学与新陈代谢》杂志上。随着每一次会议的兴趣和参与度都有所提高，2009年有200多人参加了会议。我们预计2013年将有250-300人参加。NIH的支持将帮助我们延续这一传统，将来自世界各地的UCD专家聚集在一起，分享研究发现，并鼓励和加快合作研究。将鼓励学员参加会议，以补充他们的培训，并提交摘要，以竞争旅行奖项。拟议的会议形式是一个全天的计划，分为四个会议：1)提出新的治疗方法的病理生理学见解，2)早期发现和新的治疗原则，3)关注差异的世界各地的纵向研究，以及4)临床主题和患者结果。还将有海报演示，让学员有机会相互分享，与高级调查人员分享并接受反馈。在研讨会之前，UCDC/E-IMD将于9月9日举行联席会议。1和当晚的欢迎招待会，让更多的时间来审查海报，建立网络，并建立关系。将对研讨会进行评估；与会者将填写一份表格，说明在实现我们的目标方面的成功程度。最后，会议记录将发表在《分子遗传学和新陈代谢》杂志上。

DESCRIPTION (provided by applicant): A urea cycle disorder (UCD) is an inborn error of metabolism caused by a deficiency of one of the enzymes in the urea cycle, which is responsible for removing ammonia from the blood and brain. The toxic ammonia can accumulate causing coma and brain damage. UCDs 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. There is currently no cure, although novel therapies have improved the outcome for many affected individuals. This R13 conference grant application requests funding to help support a Urea Cycle Disorder Satellite Symposium to the 12th International Congress of Inborn Errors of Metabolism (ICIEM) Conference in Barcelona, Spain on September 2, 2013. The ICIEM Conference, to take place September 3-7, 2013, will draw UCD experts from around the world. In order to take advantage of this opportunity, the Urea Cycle Disorders Consortium (UCDC) will organize a scientific symposium, titled "International Symposium on Urea Cycle Disorders (UCD): Catalyzing New Therapeutic Approaches", in conjunction with 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 in Vienna in 1997, Sydney in 2003, and La Jolla in 2009. 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 of these meetings with more than 200 participants involved in 2009. We expect 250-300 participants in 2013. NIH support will help us 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 and to submit abstracts to compete for travel awards. The proposed conference format is a full day program divided into four sessions: 1) pathophysiological insights suggesting novel therapeutic approaches, 2) early detection and new treatment principles, 3) longitudinal studies across the world with focus on differences, and 4) clinical themes and patient outcomes. There will also be poster presentations, giving trainees a chance to share with each other and with senior investigators and receive feedback. The symposium will be preceded by a joint UCDC/E-IMD meeting on Sept. 1 and a welcome reception that evening, giving additional time to review posters, network, and establish relationships. There will be an evaluation of the symposium; participants will fill out a form indicating the level of success in achieving our goals Finally, the proceedings will be published by Molecular Genetics and Metabolism.