Society for Inherited Metabolic Disorders Annual Meeting

遗传性代谢紊乱学会年会

• 批准号: 9258206
• 负责人: NICOLA LONGO
• 金额: $ 1.5万
• 依托单位: UNIVERSITY OF UTAH
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-07-14 至 2022-01-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9258206
• 关键词: Affect; Age; American; Area; Arthritis; Award; Biochemistry; Blindness; Brazil; Cerebral Palsy; Child; Clinical; Clinical Trials; Congresses; Country; Diabetes Mellitus; Disease; Enzymes; Failure; Florida; Functional disorder; Funding; Genes; Genomics; Goals; Growth; Heart Diseases; Hepatic; Inborn Errors of Metabolism; Individual; Inherited; Intellectual functioning disability; International; Kidney; Knowledge; Location; Medical Genetics; Mental Retardation; Metabolic Diseases; Minority; Molecular; Neonatal Screening; Neuromuscular Diseases; Pathway interactions; Patient Care; Patients; Pharmaceutical Preparations; Physicians; Privatization; Rare Diseases; Recruitment Activity; Research; Research Personnel; Scholarship; Societies; Source; Specialist; Time; Training; Travel; United States National Institutes of Health; Variant; Washington; Woman; design; effective therapy; exome; genome sequencing; medical schools; meetings; novel therapeutics; programs; symposium; whole genome

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.

项目概要/摘要 遗传性代谢紊乱协会 (SIMD) 请求支持为学员提供奖学金 参加 2016 年至 2020 年的年会。2016 年会议将在 Ponte Vedra 海滩举行， 佛罗里达州，2016 年 4 月 3-6 日。2017 年会议将与国际大会同时举行 先天性代谢缺陷会议，巴西里约热内卢，2017 年 9 月 5-8 日。2018 年会议将于 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 华盛顿州西雅图医学遗传学博士。 2020年会议将在大会确定的地点举行 美国。先天性代谢缺陷（IEM）是导致智力障碍、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。这些病症影响所有年龄段的人，但儿童受到的影响尤其严重。临床上 这些疾病的分子谱持续扩大，部分原因是疾病的快速扩张 新生儿筛查计划可识别较轻的病例以及基因组学（外显子组和 全基因组测序）可识别病情最严重的患者。新疗法是 已可用于某些病症，但确定新疗法的临床试验仍然相对较少 以前无法治疗的病症。为了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。美国要在这一重要领域保持领先地位 研究中，吸引年轻研究人员进入该领域至关重要。实现这一目标的有效机制 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 并与其他知名研究人员建立科学联系。 SIMD会议每年举行一次， 参与度，尤其是年轻研究人员的参与度，每年都在稳步增加。 NIH 的可用性 旅行奖励是这一增长的主要原因。寻求资助的学员必须提交一份 描述将在会议上提出的原创研究的摘要。实习生/年轻研究者通常 每次会议提交约 30 份摘要供展示，国际会议数量是该数字的两倍 会议（2017）。旅行奖励申请将在每次会议前 3 个月进行竞争性审核， 目标是为全国会议颁发最多 15 个年度奖项，每个奖项 1,000 美元，以及最多 10 个奖项 国际会议费用为 1,500 美元。额外资金将从私人来源筹集。妇女和 将积极招募少数族裔申请人。