Society for Inherited Metabolic Disorders Annual Meeting

描述（由申请人提供）： 遗传性代谢障碍协会（SIMD）要求支持其 会议将于2002年3月3日至6日在阿西洛马举行。支持也是 2003年年度会议， 在澳大利亚布里斯班举行的先天性代谢缺陷国际大会， 以及2004年和2005年在美国举行的年会。所有 所要求的资金中的一部分将用于培训学员和年轻科学家， 出席会议。先天性中间代谢缺陷（IEM）是一种 智力迟钝、脑瘫、神经肌肉疾病 心脏疾病、肝肾功能障碍、关节炎、糖尿病、生长 失败和盲目。由于广泛的临床和分子谱， 疾病正在阐明，受影响的人数很多 比最初想象的要大，影响1-3/1000的出生婴儿。识别 这些疾病已经大大扩大，由于引进 在许多州扩大新生儿筛查。调查原因， 这些先天性代谢缺陷的机制改善了诊断， 导致了对许多这些疾病的有效治疗，但还有很多 要做这项研究也使我们对以下方面的了解有了实质性的增加： 中间代谢、信号转导、中枢神经系统 神经系统功能、细胞内靶向和基本遗传机制。 这种知识的增长对于保持创新的进步至关重要。 治疗这些严重的疾病。美国要想在这方面保持领先地位， 重要的研究和临床应用领域，吸引 年轻的调查员进入现场。实现这一目标的一个有效机制是 为他们提供参加SIMD会议的机会， 他们可以受到启发，研究该领域，并发展与其他国家的科学联系， 成立调查员。 SIMD会议每年举行一次，参与者，特别是年轻人， 由于NIH的支持，研究人员的人数一直在增加。参与 妇女和少数民族也受益于这种支持。的可用性 受训人员和初级科学家的旅费继续减少， 学术健康中心预算缩水我们设计了科学计划 包括IEM的尖端临床和基础研究。其中包括 其他关于治疗先天性缺陷的新临床试验的会议 代谢，结构生物学的进展及其对 IEM和IEM管理中的营养问题。根据往年的情况，我们 预计将提交30-50份摘要，供在2010年年度会议上介绍。 美方提交可能是国际水平的2-3倍 会议将对旅费申请进行竞争性审查 在年会前几个月。审查委员会，其中包括 申请人将审查摘要，并选择那些授予 旅行奖励。选择将基于科学价值和相关性， 先天性代谢缺陷优先旅行奖将颁发给 培训、女性初级科学家以及女性和少数民族科学家。 NIH对这一应用的支持将极大地促进美国研究人员留在这一令人兴奋的前沿。 扩大领域。

DESCRIPTION (provided by applicant): The Society for Inherited Metabolic Disorders (SIMD) requests support for its annual meeting to be held in Asilomar on March 3-6, 2002. Support is also requested for the 2003 annual meeting, to be held in conjunction with the International Congress on Inborn Errors of Metabolism in Brisbane, Australia, and for the 2004 and 2005 annual meetings to be held in the United States. All of the funds requested will be devoted to permit trainees and junior scientists to attend the meeting. Inborn errors of intermediary metabolism (IEM) are an important cause of mental retardation, cerebral palsy, neuromuscular disease, cardiac disorders, hepatic and renal dysfunction, arthritis, diabetes, growth failure, and blindness. As the wide clinical and molecular spectrum of these disorders is being elucidated, the number of affected individuals is much larger than originally thought, affecting 1-3/1000 of babies born. Recognition of these disorders has expanded considerably due to the introduction of expanded newborn screening in many states. Research into the causes and mechanisms of these inborn errors of metabolism has improved diagnosis and has led to effective treatment for many of these conditions, but there is much left to do. This research has also led to substantive increases in our knowledge of the basic science of intermediary metabolism, signal transduction, central nervous system function, intracellular targeting, and basic genetic mechanisms. This increase in knowledge is essential to maintain progress in innovative therapies for these severe disorders. For the US to remain pre-eminent in this important area of research and clinical application, it is essential to attract young investigators into the field. One effective mechanism to achieve this is to provide them with the opportunity to participate in the SIMD meeting, where they can be inspired to research the field and develop scientific ties to other established investigators. The SIMD meeting is held annually and participation, especially by young investigators, has been increasing due to support from the NIH. Participation by women and minorities also benefits from this support. The availability of travel funds for trainees and junior scientists continues to diminish as academic health center budgets shrink. We have designed the scientific program to include cutting edge clinical and basic research in IEM. It includes among others sessions on new clinical trials for treatment of inborn errors of metabolism, advances in structural biology and their impact of the study of IEMs, and nutritional issues in management of IEMs. Based on previous years, we expect submission of 30-50 abstracts for presentation at the annual meetings in the US. Submissions will likely be 2-3 times this level for the international meeting. Applications for travel funds will be competitively reviewed five months prior to the annual meeting. The review committee, which includes the applicants for this grant, will review the abstracts and select those granted travel awards. The selection will be based on scientific merit and relevance to inborn errors of metabolism. Priority travel awards will be given fellows in training, women junior scientists, and women and minority scientists. NIH support of this application will greatly facilitate US investigators remaining in the forefront of this exciting and expanding field.