Society for Inherited Metabolic Disorders Annual Meeting

遗传性代谢紊乱学会年会

• 批准号: 10468400
• 负责人: Gerard Thomas Berry
• 金额: $ 1万
• 依托单位: BOSTON CHILDREN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-06-01 至 2027-05-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10468400
• 关键词: Affect; American; Area; Arthritis; Award; Biochemistry; Blindness; Cerebral Palsy; Cities; Clinical; Clinical Trials; Congresses; Country; Development; Diabetes Mellitus; Disease; Enzymes; Failure; Funding; Genes; Genetic; Goals; Grant; Growth; Heart Diseases; Hepatic; Inborn Errors of Metabolism; Individual; Inherited; Intellectual functioning disability; International; Japan; Knowledge; Mass Spectrum Analysis; Medical Genetics; Metabolic; Metabolic Diseases; Minority; Molecular; Neonatal Screening; Neuromuscular Diseases; Pathway interactions; Patient Care; Pharmaceutical Preparations; Physicians; Privatization; Recruitment Activity; Research; Research Personnel; Scholarship; Societies; Sodium Chloride; Source; Specialist; Time; Training; Travel; United States National Institutes of Health; Variant; Woman; cost; design; effective therapy; efficacy evaluation; exome; genome sequencing; kidney dysfunction; medical schools; meetings; novel therapeutics; screening program; whole genome

ABSTRACT The Society for Inherited Metabolic Disorders (SIMD) requests support to provide scholarships for trainees to attend its annual meetings in years 2023 to 2027. The 2022 meeting will be held in Orlando, FL April 10-13, 2022. The 2022 meeting will be supported by no-cost extension of the previous grant. The 2023 meeting will be held in Salt Lake City, UT March 18-21, 2023 in conjunction with the American College of Medical Genetics (ACMG) following their meeting. The 2024 meeting is TBD. The 2025 meeting will be held in conjunction with the International Congress on Inborn Errors of Metabolism in Kyoto, Japan. The 2026 meeting is TBD. The 2027 meeting is TBD. 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. 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 (2025). Applications for travel awards will be competitively reviewed 4 months prior to each meeting, with the goal of making up 10 annual awards of $1,000 each for the national meeting and up to 5 awards of $2,000 for the International meeting. Additional funds will be solicited from private sources. Women and minority applicants will be actively recruited.

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 出席2023年至2027年的年会。2022年会议将于4月10日至13日在佛罗里达州奥兰多举行， 2022年2022年会议将得到免费延长前一笔赠款的支持。2023年会议将是 与美国医学遗传学学院于2023年3月18日至21日在德克萨斯州盐湖城举行 (ACMG)在他们会面后。2024年会议待定。2025年会议将与 在日本京都举行的新陈代谢先天错误国际会议。2026年会议待定。2027年 会面时间待定。 先天性代谢障碍(IEM)是导致智力残疾、脑性瘫痪、神经肌肉疾病的重要原因 疾病、心脏疾病、肝肾功能障碍、关节炎、糖尿病、生长衰竭和失明。AS 这些疾病的广泛的临床和分子谱正在被阐明，部分原因是这种发展 串联质谱学和新生儿筛查项目的迅速扩大，受影响的人数 现在已知的个体比最初认识到的要大得多。此外，治疗方法还可用于 一些情况下，但很少进行临床试验来评估其疗效。因此，还有很多事情要做 为了更好地了解这些严重的疾病并开发有效的治疗方法。对于美国来说， 为了在这一重要研究领域保持领先地位，必须吸引年轻的研究人员进入该领域。 实现这一目标的一个有效机制是为他们提供参与SIMD的机会 在那里，他们可以探索这一领域，并与其他成熟的调查人员建立科学联系。SIMD 会议每年举行一次，与会者，特别是年轻调查人员，每年都在稳步增加。 年。NIH旅行奖的可获得性一直是这一增长的主要原因。寻求资助的学员 被要求提交一份描述原创研究的摘要，并在会议上提交。我们期待着 提交40份见习生/青年调查员在每次会议上提交的摘要，是该摘要的两倍 国际会议编号(2025)。旅行奖励的申请将以竞争性方式进行审查4 在每次会议前几个月，目标是为国家 国际会议和最多5个2,000美元的奖励。将向私人部门募集更多资金 消息来源。将积极招聘妇女和少数族裔申请者。