Scientific Conference: Malignant Hypertherima (MD): New Insights and Connections

描述（由申请人提供）：本申请代表了对即将于2010年4月23日至24日在匹兹堡大学医学中心（UPMC）举行的美国恶性高热协会（MHAUS）赞助的科学会议的部分支持请求。本次会议将聚集一个跨学科的专家组，包括临床医生，参与恶性高热（MH）研究和咨询的遗传学家，以及研究正常和MH骨骼肌中Ca 2+调节和失调机制的基础科学家，以交流与MH和其他肌肉疾病相关的新信息和想法。会议的总体目标是让临床医生和科学家分享新的数据，将这些信息转化为有效的患者诊断和管理策略，并为新的研究工作提供动力。会议的具体目标是在总共5场会议上召集大约50名与会者，邀请大约20名发言者，由会议主席介绍并主持每场会议。会议的主题将包括了解MH的病理生理学，遗传检测，MH流行病学和案例研究，MH易感性和其他肌肉疾病之间的关系，以及临床实践，教育计划和MH相关研究的未来方向。会议的意义在于，像许多骨骼肌疾病一样，MH的特征是兴奋-收缩偶联（ECC）异常和肌肉激活期间肌浆钙（Ca 2+）水平的控制。了解这些过程的进展将有助于MH研究领域的进展，并有助于了解肌肉功能障碍和疾病。会议的健康相关性在于，临床医生将能够提供更好的关于MH或MH样事件风险患者的护理和治疗的建议，基础科学家也将继续深入了解他们的研究如何与人类健康相关。这次会议还应鼓励新的实验方法来理解MH的病理生理学的基本机制，这可能导致新的治疗和诊断方法。

DESCRIPTION (provided by applicant): This application represents a request for partial support for an upcoming Malignant Hyperthermia Association of the United States (MHAUS)-sponsored scientific conference to be held April 23-24, 2010, at the University of Pittsburgh Medical Center (UPMC). This conference will gather an interdisciplinary group of experts including clinicians, geneticists involved in malignant hyperthermia (MH) research and counseling, and basic scientists studying mechanisms of Ca2+ regulation and dysregulation in normal and MH skeletal muscle, to exchange new information and ideas as they relate to MH and other muscle disorders. The overall goal of the conference is to allow clinicians and scientists to share new data, translate that information into effective strategies for patient diagnosis and management, and provide motivation for new research efforts. The specific aims of the conference are to convene approximately 50 total participants, with about 20 invited speakers in a total of 5 sessions, with session chairs providing an introduction to and moderating each session. The topics of the sessions will include advances in understanding the pathophysiology of MH, genetic testing, MH epidemiology and case studies, the relationship between MH-susceptibility and other muscle disorders, and future directions in clinical practice, educational initiatives, and MH-related research. The significance of the conference is that like many skeletal muscle disorders, MH is characterized by abnormalities in Excitation-Contraction Coupling (ECC) and the control of myoplasmic calcium (Ca2+) levels during muscle activation. Advances in understanding these processes will help progress the field of MH research, as well as contribute to the understanding of muscle dysfunction and disease. The health relatedness of the conference is that clinicians will be able to provide better advice about the care and treatment of patients at risk for MH or MH-like events, and basic scientists will also continue to gain insights into how their research relates to human health. This conference should also encourage new experimental approaches to understanding basic mechanisms in the pathophysiology of MH that may lead to new approaches to therapeutics and diagnostics.