Society for Inherited Metabolic Disorders Annual Meeting

遗传性代谢紊乱学会年会

基本信息

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
项目类别：
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

项目摘要

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.

项目摘要/摘要继承的代谢疾病协会（SIMD）请求支持为受训者提供奖学金参加2016年至2020年的年度会议。2016年会议将在Ponte Vedra Beach举行佛罗里达，2016年4月3日至6日。2017年会议将与国际大会共同举行 2017年9月5日至8日，巴西里约热内卢的新陈代谢错误。2018年会议将在 2018年3月11日至14日，加利福尼亚州圣地亚哥。2019年会议将与美国学院协调华盛顿西雅图的医学遗传学。 2020会议将在要确定的地点举行美国。天生的新陈代谢错误（IEM）是智力残疾的重要原因，脑瘫，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。这些条件会影响各个年龄段的人们，但孩子受到不成比例的影响。临床这些疾病的分子光谱不断扩展，部分原因是新生儿筛查计划可以识别温和的病例和基因组学的进展（外显子和整个基因组测序）鉴定在最严重端的患者。新疗法是适用于某些条件，还有相对较少的临床试验来确定新疗法以前不可治疗的条件。还有很多事情要做，以更好地理解这些严重的罕见疾病并为他们开发有效的治疗方法。使美国在这个重要领域保持杰出研究，必须吸引年轻的研究人员进入该领域。实现这一目标的一种有效机制目标是为他们提供参加SIMD会议的机会，他们可以在那里探索该领域并与其他知名研究人员建立科学联系。 SIMD会议每年举行参与，尤其是年轻的研究人员，每年都在稳步增加。 NIH的可用性旅行奖一直是这一增加的主要原因。寻求资金的学员必须提交摘要描述了将在会议上提出的原始研究。学员/年轻的调查人员通常在每次会议上提交大约30次摘要，以供国际数字两次会议（2017年）。每次会议前3个月，将竞争旅行奖的申请，全国会议的目标最高为15美元，每人1,000美元，最多10个奖项国际会议的$ 1,500。额外的资金将从私人来源征集。女人和少数民族申请人将被积极招募。