TRAVEL OF SIMD INVESTIGATORS TO IEM CONGRESS IN THE UK

本申请是代表遗传性代谢紊乱学会(SIMD)准备的。具体目的是获得资金，以支持年轻的美国调查人员参加2000年9月14日至17日在英国剑桥举行的代谢紊乱国际大会。先天性代谢障碍(IEM)可影响任何器官的任何功能；最常见的导致智力低下、神经肌肉疾病、心脏、肝脏、肾脏、骨骼、眼睛和/或内分泌功能障碍。大多数罢工是婴幼儿，尽管成年人也不例外。对于已知和新描述的代谢性疾病，研究使人们对中间代谢的分子和遗传学基础、许多基本的组织和细胞功能(包括基本的遗传机制)以及更好的诊断和治疗有了实质性的了解。这一领域的无与伦比的进步和这一知识在临床上的持续应用，与该领域科学家的稀缺形成对比，表明需要年轻研究人员的参与、发展和鼓励。此外，对新的、年轻的临床医生有很大的需求，以取代其中许多人即将退休的“老卫士”。美国要想在这个重要的遗传学领域保持领先地位，就必须鼓励年轻的研究人员在这个领域工作，并参与到他们可以分享自己的工作并为新的合作项目做出贡献的情况中。大多数IEM是孤儿疾病，任何一种疾病都只有少数专家，这往往使国际合作变得至关重要。由欧洲SSIEM与SIMD以及日本、意大利和澳大拉西亚代谢会联合主办的国际代谢学大会每三年举行一次；美国国立卫生研究院过去4年对SIMD的资助使SIMD能够增加其在这些会议上的存在，并支持我们最有成效的年轻研究人员；妇女和少数族裔的参与也有所增加。随着学术预算的缩水，这类个人可获得的旅行资金继续减少。在往年的基础上，我们预计将有75-100份来自SIMD成员的摘要提交大会。旅行基金的申请将由旅行委员会以竞争性方式审查，该委员会包括这项补助金的申请者，并在会议前四个月进行挑选。选择将基于科学价值和与先天新陈代谢错误的相关性。优先旅行奖将授予培训研究员、年轻女性和少数族裔参与者。美国国立卫生研究院对这一申请的支持将有助于美国调查人员保持在这一令人兴奋和不断扩大的领域的前沿。所有与该奖项相关的研究都将发表在《遗传性代谢疾病杂志》上。

This application is prepared on behalf of the Society for Inherited Metabolic Disorders (SIMD). The Specific Aim is to obtain funds to support travel of young US investigators to attend the International Congress on Metabolic Disorders in Cambridge, England, September 14-17 2000. Inborn errors of metabolism (IEMs) can affect any function in any organ; most commonly causing mental retardation, neuromuscular disease, cardiac, hepatic, renal, skeletal, ocular and/or endocrine dysfunction. Most strike infants and young children although adults are not exempted. For both known and newly described metabolic diseases, research has led to substantive increases in understanding the molecular and genetic basis of intermediary metabolism, and many fundamental tissue and cellular functions including basic genetic mechanisms as well as to better diagnosis and therapy. The unparalleled advances in this area and the continuing application of this knowledge to clinical situations, contrast with the meager supply of scientists in this field and demonstrates the need for participation, development, and encouragement of young investigators. In addition there is a great need for new, younger clinicians to replace the "Old Guard" many of whom are nearing retirement. For the US to remain pre- eminent in this important area of genetics, it is essential to encourage young investigators to work in this field and to participate in situations where they can share their work and contribute to new collaborative projects. Most IEM are orphan diseases with only a handful of experts in any one disease which often makes international collaboration essential. An International Metabolic Congress, jointly sponsored by the European SSIEM together with the SIMD and the Japanese, Italian and Australasian metabolic societies is held triennially; grants to the SIMD from the NIH for the last 4 have enabled the SIMD to increase its presence at these and to support our most productive young investigators; participation by women and minorities has also increased. The availability of travel funds for such individuals continues to diminish as academic budgets shrink. Based on previous years, we expect submission of 75-100 abstracts from SIMD members for presentation at the Congress. Applications for travel funds will be competitively reviewed by the travel committee, which includes the applicants for this grant, and selected four months prior to the meeting. The selection will be based on scientific merit and relevance to inborn errors of metabolism. Priority travel awards will be given fellows in training, young women, and minority participants. NIH support of this application will facilitate US investigators remaining the forefront of this exciting and expanding field. All work related to this award will be published in the J. Inherited Metabolic Diseases