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

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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.