Society for Inherited Metabolic Disorders Annual Meeting

项目摘要/摘要 遗传性代谢疾病协会(SIMD)请求支持，为学员提供奖学金，以 参加2016至2020年的年度会议。2016年会议将在Ponte Vedra海滩举行， 佛罗里达州，2016年4月3日至6日。2017年会议将与#年国际大会同时举行 2017年9月5日-8日，巴西里约热内卢，新陈代谢先天错误。2018年会议将在北京举行 加利福尼亚州圣地亚哥，2018年3月11日至14日。2019年会议将与美国学院协调举行 位于华盛顿州西雅图的医学遗传学研究所。2020年会议将在年内确定的地点举行 美国。先天性代谢障碍(IEM)是导致智力残疾、脑性瘫痪、 神经肌肉疾病，心脏疾病，肝和肾功能障碍，关节炎，糖尿病，生长衰竭和 失明。这些疾病影响所有年龄段的人，但儿童受到的影响不成比例。临床部 这些疾病的分子谱继续扩大，部分原因是 新生儿筛查计划，识别较轻微的病例和基因组学进展(外显子组和 全基因组测序)，识别光谱中最严重的一端的患者。新的疗法是 可用于某些疾病，但用于确定新疗法的临床试验仍然相对较少 以前无法治愈的疾病。要更好地了解这些严重、罕见的疾病，还有很多工作要做 并为他们开发有效的治疗方法。对于美国在这一重要领域保持领先地位 在研究方面，吸引年轻的调查人员进入这一领域是至关重要的。实现这一目标的一个有效机制 目标是为他们提供参加SIMD会议的机会，在那里他们可以探索该领域 并与其他知名调查人员建立科学联系。SIMD会议每年举行一次， 参与，特别是年轻调查人员的参与，每年都在稳步增加。美国国立卫生研究院的可用性 旅游奖励一直是这一增长的主要原因。申请资助的学员须提交一份 摘要描述将在会议上提交的原创性研究。受训人员/年轻调查人员通常 在每次会议上提交大约30篇摘要，其中国际会议的摘要数量是国际会议的两倍 会议(2017)。旅行奖励的申请将在每次会议前3个月进行竞争性审查， 目标是为全国会议颁发最多15个年度奖项，每个奖项1000美元，最多10个奖项 国际会议费用为1,500美元。将从私人来源募集更多资金。女性和 少数族裔申请者将被积极招募。

PROJECT SUMMARY/ABSTRACT The Society for Inherited Metabolic Disorders (SIMD) requests support to provide scholarships for trainees to attend its annual meetings in years 2016 to 2020. The 2016 meeting will be held in Ponte Vedra Beach, Florida, on April 3-6, 2016. The 2017 meeting will be held in conjunction with the International Congress on Inborn Errors of Metabolism in Rio de Janeiro, Brazil, September 5-8, 2017. The 2018 meeting will be held in San Diego, CA, March 11-14, 2018. The 2019 Meeting will be held in coordination with the American College of Medical Genetics in Seattle, Washington. The 2020 meeting will be held in a location to be determined in the USA. Inborn errors of metabolism (IEM) are an important cause of intellectual disability, cerebral palsy, neuromuscular disease, cardiac disorders, hepatic and renal dysfunction, arthritis, diabetes, growth failure and blindness. These conditions affect people of all ages, but children are disproportionately affected. The clinical and molecular spectrum of these disorders continues to expand, in part fueled by the rapid expansion of newborn screening programs with the identification of milder cases and advances in genomics (exome and whole genome sequencing) that identify patients at the most severe end of the spectrum. New therapies are becoming available for some conditions, with still relatively few clinical trials to identify new therapies for previously untreatable conditions. Much remains to be done to better understand these severe, rare disorders and to 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. Trainees/young investigators usually submit about 30 abstracts for presentation at each meeting with twice that number for the international meeting (2017). Applications for travel awards will be competitively reviewed 3 months prior to each meeting, with the goal of making up to 15 annual awards of $ 1,000 each for the national meeting and up to 10 awards of $ 1,500 for the International meeting. Additional funds will be solicited from private sources. Women and minority applicants will be actively recruited.