Scientific Conference to discuss approach to RYRI secondary findings, risk of MH in RYR1 related myopathies and risk of MH in exertional heat illnesses, statin myopathies and idiopathic hyperCKemia

科学会议讨论 RYRI 次要发现的方法、RYR1 相关肌病的 MH 风险以及劳力性热病、他汀类肌病和特发性高肌病的 MH 风险

• 批准号: 9397861
• 负责人: John Francis Capacchione
• 金额: $ 1.5万
• 依托单位: MHAUS
• 依托单位国家: 美国
• 财政年份: 2017
• 资助国家: 美国
• 起止时间: 2017-09-01 至 2018-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9397861
• 关键词: Address; Anesthesia procedures; Anesthesiology; Awareness; Back; Basic Science; Benign; Buffaloes; Caring; Communication; Communities; Consensus; Counseling; Dantrolene; Diagnosis; Discipline; Disease; Emergency Medicine; Ensure; Environment; Exercise; Exercise Physiology; Exertion; Family; Family member; Female; Future; Genes; Genetic Research; Genetic screening method; Goals; Health Personnel; Healthcare; Individual; Inherited; International; Knowledge; Leadership; Learning; Life; Malignant hyperpyrexia due to anesthesia; Medical; Medical center; Minnesota; Myopathy; Outcome; Pathogenicity; Patient advocacy; Patients; Perioperative; Phenotype; Physicians; Population; Predisposition; Readiness; Research; Research Personnel; Risk; Ryanodine Receptor Calcium Release Channel; Safety; Savings; Scientist; Signs and Symptoms; Sports Medicine; Students; Test Result; Translating; Underrepresented Minority; United States; Universities; Variant; Work; associated symptom; bench to bedside; clinical application; data sharing; exome; experience; genetic counselor; genetic variant; genome sequencing; improved; interest; medical specialist; meetings; minority investigator; multidisciplinary; next generation; patient advocacy group; patient population; posters; prevent; programs; symposium; variant of unknown significance; whole genome

This proposal is for partial support of the only major national or international meeting dedicated to expanding the knowledge about malignant hyperthermia (MH) and the complexities of MH-related phenotypes, to a multi-disciplinary audience including medical specialists of varied disciplines as well as patient advocacy groups. This conference will be sponsored by the Malignant Hyperthermia Association of the United States (MHAUS) and will be held September 23-24, 2017 at the McNamara Alumni Center on the campus of the University of Minnesota in Minneapolis, MN. The program for the conference was developed by a Planning Committee representing eminent physician scientists and leaders in in the fields of MH and related muscle diseases: Dr. John Capacchione (University of Minnesota), Dr. Sheila Riazi (University of Toronto). Dr. Barbara Brandom (University of Pittsburgh), Dr. Henry Rosenberg (St. Barnabas Medical Center), and Dr. Georgirene Vladutiu (University at Buffalo). The overarching goal of the conference is to improve MH preparedness/care for non-conventional patient populations and to promote the advancement of young investigators to develop into the next generation of leaders in the MH field. Specific aims are as follows: Aim 1. To provide a forum for clinicians, researchers, geneticists and patients to present and openly discuss strategies to best manage concerns regarding potential MH implications in patients with different genetically-inherited and acquired muscle disorders; and to determine how to best counsel clinicians/patients for which exome and/or whole genome sequencing identifies a variant of unknown significance (VUS) in a known MH-causative gene. Aim 2: To promote the visibility and leadership of junior investigators in the field by providing a platform for students, fellows, and new investigators to present their work, as well as to interact and network with established senior investigators in the field. Aim 3. To provide an opportunity for interested patient advocacy groups and healthcare practitioners to share concerns related to the proper care of the MH-susceptible (MHS) population, as well as for researchers to communicate the latest advances in MH diagnosis and treatment. The 2017 MHAUS conference will consist of 6 sessions with over 20 speakers, 12 discussion leaders, and multiple poster presentations. Experienced investigators will pair with newer investigators to moderate each session, addressing basic research approaches for predicting MH susceptibility related to RYR1 (ryanodine receptor type-1 gene) VUS and associated muscle disorders to the more clinical applications of assessing risk. Current issues and concerns facing MHS patients and healthcare providers will be highlighted. We estimate that approximately 100-120 people will attend this conference including: health care practitioners in anesthesiology, exercise physiology, sports medicine, and emergency medicine; basic scientists; geneticists and genetic counselors; patients and family members. Our overall aim is to provide a forum for these individuals to share data/experiences needed to translate new discoveries from the bench to bedside and back.

这项建议是为了部分支持唯一的主要国家或国际会议， 扩大了关于恶性高热（MH）和MH相关表型复杂性的知识， 面向多学科受众，包括不同学科的医学专家以及患者倡导者 组本次会议将由美国恶性高热协会赞助 （MHAUS），并将于2017年9月23日至24日在麦克纳马拉校友中心的校园举行 明尼苏达州明尼阿波利斯市明尼苏达大学。会议的议程是由一个规划委员会制定的。 代表MH和相关肌肉领域杰出医师科学家和领导者的委员会 疾病：John Capacchione博士（明尼苏达大学），Sheila Riazi博士（多伦多大学）。Dr. Barbara Brandom（匹兹堡大学）、亨利罗森伯格博士（圣巴纳巴斯医学中心）和Georgiene博士 Vladutiu（布法罗大学）。会议的总体目标是改善卫生保健准备/护理， 非传统患者人群，并促进年轻研究者的发展， MH领域的下一代领导者。具体目标如下：目标1。是让 临床医生，研究人员，遗传学家和患者提出并公开讨论最佳管理策略 关于不同遗传和获得性肌肉患者的潜在MH影响的担忧 疾病;以及确定如何最好地建议临床医生/患者选择哪个外显子组和/或全基因组 测序鉴定已知MH致病基因中的未知重要性（VUS）变体。目标2： 通过为学生，研究员， 和新的调查人员介绍他们的工作，以及互动和网络与既定的高级 调查员在外地。目标3.为感兴趣的患者倡导团体和医疗保健提供机会 从业人员分享有关适当照顾MH易感人群（MHS）的关注，以及 交流MH诊断和治疗的最新进展。 2017年MHAUS会议将包括6个会议，超过20位演讲者，12位讨论领导者， 和多个海报展示。有经验的调查员将与新的调查员配对， 会议，讨论预测与RyR 1（ryanodine）相关的MH易感性的基础研究方法 1型受体基因）VUS和相关肌肉疾病的风险评估的更多临床应用。 目前的问题和面临的MHS患者和医疗保健提供者的关注将突出显示。我们估计 大约100-120人将参加这次会议，包括：麻醉学的卫生保健从业人员， 运动生理学、运动医学和急救医学;基础科学家;遗传学家和遗传学家 咨询师、患者和家属。我们的总体目标是为这些人提供一个分享的论坛 将新发现从实验室转化到床边并返回所需的数据/经验。