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.

本提案是为了部分支持唯一的主要国家或国际会议，致力于 扩展有关恶性高热 (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主办 （MHAUS）将于 2017 年 9 月 23 日至 24 日在 MHAUS 校园的麦克纳马拉校友中心举行 明尼苏达大学，明尼苏达州明尼阿波利斯市。会议议程由规划部制定 代表 MH 和相关肌肉领域的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）。芭芭拉博士 Brandom（匹兹堡大学）、Henry Rosenberg 博士（圣巴拿巴医疗中心）和 Georgirene 博士 Vladutiu（布法罗大学）。会议的总体目标是改善 MH 的准备/护理 非常规患者群体，并促进年轻研究人员发展成为 MH 领域的下一代领导者。具体目标如下： 目标 1. 提供一个论坛 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 关于具有不同基因遗传和获得性肌肉的患者的潜在 MH 影响的担忧 疾病；并确定如何为临床医生/患者提供关于外显子组和/或全基因组的最佳咨询 测序鉴定出已知 MH 致病基因中的未知意义变异 (VUS)。目标 2： 通过为学生、研究员、 和新的研究人员展示他们的工作，并与资深的资深研究人员互动和建立联系 实地调查人员。目标 3. 为感兴趣的患者倡导团体和医疗保健提供机会 从业者分享有关 MH 易感人群 (MHS) 适当护理的担忧，以及 研究人员交流 MH 诊断和治疗的最新进展。 2017 年 MHAUS 会议将包括 6 场会议，超过 20 名演讲者、12 名讨论领袖、 以及多张海报展示。经验丰富的调查员将与新的调查员配对，以协调每个调查员的工作 会议讨论了预测与 RYR1（ryanodine）相关的 MH 易感性的基础研究方法 1 型受体基因）VUS 和相关的肌肉疾病在评估风险方面有更多的临床应用。 MHS 患者和医疗保健提供者当前面临的问题和担忧将得到强调。我们估计 大约 100-120 人将参加本次会议，其中包括：麻醉科医疗保健从业人员、 运动生理学、运动医学、急诊医学；基础科学家；遗传学家和遗传学 辅导员；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临床并返回所需的数据/经验。