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）请求支持为学员提供奖学金，以参加2012年至2014年的年度会议。2012年的会议将与在北卡罗来纳州夏洛特举行的美国医学遗传学学院会议协调举行。2013年的会议将与西班牙巴塞罗那的先天性代谢缺陷国际大会同时举行，而2014年的会议将在一个待定的地点举行。先天性代谢缺陷（IEM）是智力迟钝、脑瘫、神经肌肉疾病、心脏病、肝肾功能障碍、关节炎、糖尿病、生长障碍和失明的重要原因。为 这些疾病的广泛的临床和分子谱正在被阐明，部分是由于串联质谱的发展和新生儿筛查计划的快速扩展，现在已知受影响的个体的数量比最初认识到的要大得多。此外，某些情况下也有治疗方法，但很少进行临床试验来评估其疗效。因此，仍有许多工作要做，以更好地了解这些严重的疾病，并开发有效的治疗方法。美国要想在这一重要的研究领域保持领先地位，就必须吸引年轻的研究人员进入这一领域。 领域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，在那里他们可以探索该领域并与其他已建立的研究人员建立科学联系。SIMD会议每年举行一次，参与者，特别是年轻的研究人员，每年都在稳步增加。NIH旅行奖励的可用性是这一增长的主要原因。寻求资助的受训者必须提交一份摘要，描述将在会议上提出的原始研究。我们预计受训人员/年轻调查人员将在每次会议上提交40份摘要，国际会议（2013年）的数量将是这一数字的两倍。旅行奖励的申请将 在每次会议前3个月进行竞争性审查，目标是每年为国家会议提供最多25个1，000美元的奖项，为国际会议提供最多20个1，250美元的奖项。将从私人来源筹集更多资金。将积极招聘妇女和少数民族申请人。 公共卫生相关性：遗传性代谢紊乱协会（SIMD）会议将有助于培训新的医生来照顾身体生物化学紊乱的患者。该国的这类专家很少，为新学员提供旅费，让他们见面并介绍他们的研究，鼓励他们留在实地。

DESCRIPTION (provided by applicant): The Society for Inherited Metabolic Disorders (SIMD) requests support to provide scholarships for trainees to attend its annual meetings in years 2012 to 2014. The 2012 meeting will be held in coordination with the American College of Medical Genetics Meeting in Charlotte, NC. The 2013 meeting will be held in conjunction with the International Congress on Inborn Errors of Metabolism in Barcelona, Spain, while the 2014 meeting will be held in a location to be determined. Inborn errors of 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, in part fueled by the development of tandem mass spectroscopy and the rapid expansion of newborn screening programs, the number of affected individuals is now known to be much larger than originally recognized. In addition, therapies are available for some conditions, but few clinical trials have been performed to evaluate their efficacy. Thus, much remains to be done to better understand these severe disorders and develop effective treatments for them. For the U.S. to remain pre-eminent in this important area of research, it is essential to attract young investigators into the field. One effective mechanism to achieve this goal is to provide them with the opportunity to participate in the SIMD meeting, where they can explore the field and develop scientific ties to other established investigators. The SIMD meeting is held annually and participation, especially by young investigators, has been steadily increasing each year. The availability of NIH travel awards has been a major reason for this increase. Trainees seeking funding are required to submit an abstract describing original research to be presented at the meeting. We anticipate submission of 40 abstracts for presentation at each meeting from trainees/young investigators with twice that number for the international meeting (2013). Applications for travel awards will be competitively reviewed 3 months prior to each meeting, with the goal of making up to 25 annual awards of $ 1,000 each for the national meeting and up to 20 awards of $ 1,250 for the International meeting. Additional funds will be solicited from private sources. Women and minority applicants will be actively recruited. PUBLIC HEALTH RELEVANCE: The Society for Inherited Metabolic Disorders (SIMD) meeting will help to train new physicians to take care of patients with disorders of the body's biochemistry. There are very few such specialists in the country and providing travel funds for new trainees to meet and present their research encourages them to remain in the field.