Society for Inherited Metabolic Disorders Annual Meeting

遗传性代谢紊乱学会年会

• 批准号: 10091318
• 负责人: NICOLA LONGO
• 金额: $ 1万
• 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 2023-01-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10091318
• 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; Funding; Genes; Genomics; Goals; Growth; Heart Diseases; Hepatic; Inborn Errors of Metabolism; Individual; Inherited; Intellectual functioning disability; International; 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; efficacy evaluation; exome; genome sequencing; kidney dysfunction; medical schools; meetings; novel therapeutics; screening program; 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.

项目总结/摘要 遗传性代谢障碍协会（SIMD）请求支持为学员提供奖学金， 参加2016年至2020年的年度会议。2016年的会议将在庞特韦德拉海滩举行， 佛罗里达，2016年4月3日至6日。2017年的会议将与国际会议同时举行， 巴西里约热内卢的先天性代谢缺陷，2017年9月5日至8日。2018年会议将在 圣地亚哥，加利福尼亚州，2018年3月11日至14日。2019年会议将与美国学院协调举行 位于华盛顿西雅图的医学遗传学中心。2020年会议将在一个地点举行，地点将在 USA.先天性代谢缺陷（IEM）是智力残疾、脑瘫、 神经肌肉疾病、心脏病、肝肾功能障碍、关节炎、糖尿病、生长衰竭和 失明这些情况影响到所有年龄的人，但儿童受到的影响不成比例。临床 这些疾病的分子谱继续扩大，部分原因是由于 新生儿筛查计划与鉴定较轻的案件和进展，基因组学（外显子组和 全基因组测序），以确定患者在最严重的结束的频谱。新的治疗方法 在某些情况下，仍然相对较少的临床试验，以确定新的治疗方法， 以前无法治疗的疾病。要更好地了解这些严重的罕见疾病， 并为他们开发有效的治疗方法。美国要想在这一重要领域保持领先地位， 因此，必须吸引年轻的研究人员进入这一领域。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， 参与调查的人数，特别是年轻调查人员的参与人数每年都在稳步增加。NIH的可用性 旅游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。学员/年轻调查员通常 在每次会议上提交约30份摘要，是国际会议两倍 会议（2017年）。将在每次会议前3个月对旅行奖励申请进行竞争性审查， 目标是为全国会议每年颁发15个1,000美元的奖项， 1,500美元用于国际会议。将从私人来源筹集更多资金。妇女和 将积极招聘少数族裔申请人。