RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments

这是一个部分支持“RYR-1相关疾病国际研究研讨会：从 治疗机制”将于2022年7月21日至7月22日在宾夕法尼亚州匹兹堡举行。节目 由RYR-1相关疾病患者/倡导者组成的执行组织委员会制定， RYR-1相关疾病的临床护理和基础研究方面的国际公认领导者。 该研讨会将由54人亲自参加，包括18名临床/研究专家发言人，6名 讨论领导者，13名受邀的耐心演讲者和17名额外的参与者（包括至少五名 实习生/年轻调查员）。研讨会将重点讨论：1）患者证言，2）表型 变异性，3）RYR-1变异分类，4）药物开发和验证，5）患病率和自然 历史研究，6）疾病机制，7）治疗管道，和8）RYR-1临床试验。一个重要 该计划的创新方面是，每天将有病人主导的会议，重点是病人/家庭 见证、挑战、成功、需求和建议。以患者为主导的会议旨在 帮助临床医生/研究人员更好地了解患者的观点，同时也为患者和家属提供 成员有机会直接与RYR-1相关疾病领域的临床医生和研究人员互动。 将鼓励所有与会者参加为期两天的RYR-1国际家庭会议， 在研讨会之后。前两次家庭会议包括388名与会者，代表75 RYR-1受影响的家庭来自31个州和8个国家，预计2022年的投票率会更高。 讲习班的三个首要目标是：目标1：提供一个论坛， 国际RYR-1疾病专家（研究人员，临床医生和遗传学家）与受影响的个人，家庭 会员和患者倡导者分享知识，交流思想，形成合作，并开发新的 寻找有效疗法的策略。目标2：建立临床和研究优先事项清单， 以及推动该领域向前发展所需的可行建议。目标3：使受训人员能够， 包括学生，博士后研究员和初级研究人员，与他们互动和建立网络的机会。 该领域的领导者和RYR-1相关疾病的患者，以及参与产生一个 该出版物概述了研讨会的讨论情况和协商一致的建议。 参与者将包括患者、家庭成员、临床医生和基础科学家，他们跨越年龄、种族、 种族、性别、体能、职业阶段、国籍和地理位置。我们的目标是 促进：1）利益攸关方之间的公开对话，2）有前途的年轻调查人员的参与和曝光 3）加速开发新的有效疗法的进展。这些目标 将通过一个令人兴奋的科学计划来满足，该计划整合了领导者提出的前沿研究， 该领域的重要背景下提供的输入与RYR-1相关的疾病的患者和家庭。

This is a proposal for partial support of the “RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments” to be held in Pittsburgh, PA from July 21 – July 22, 2022. The program was developed by an Executive Organizing Committee consisting of RYR-1-related disease patients/advocates and internationally-recognized leaders in the clinical care and basic research of RYR-1-related diseases. The workshop will consist of 54 in-person participants, including 18 expert clinical/research speakers, six discussion leaders, 13 invited patient speakers, and 17 additional participants (including at least five trainees/young investigators). The workshop sessions will focus on: 1) Patient Testimonials, 2) Phenotypic Variability, 3) RYR-1 Variant Classification, 4) Drug Development and Validation, 5) Prevalence and Natural History Studies, 6) Disease Mechanisms, 7) Therapeutic Pipeline, and 8) RYR-1 Clinical Trials. An important innovative aspect of the program is that each day will have patient-led sessions focusing on patient/family testimonials, challenges, successes, needs, and recommendations. The patient-led sessions are designed to help clinicians/researchers better appreciate the patient perspective, while also providing patients and family members an opportunity to interact directly with clinicians and researchers in the RYR-1-related disease field. All conferees will be encouraged to attend the two-day RYR-1 International Family Conference held on the days immediately following the workshop. The two previous family meetings included 388 attendees, representing 75 RYR-1-affected families from 31 states and eight countries and an even larger turnout is expected in 2022. The three overarching objectives of the workshop are: Objective 1: To provide a forum that unites leading international RYR-1 disease experts (researchers, clinicians, and geneticists) with affected individuals, family members, and patient advocates to share knowledge, exchange ideas, form collaborations, and develop new strategies for finding effective therapies. Objective 2: To establish a list of clinical and research priorities, as well as actionable recommendations needed to move the field forward. Objective 3: To enable trainees, including students, postdoctoral fellows, and junior investigators, opportunities to interact and network with leaders in the field and patients with RYR-1-related disease, as well as participate in the generation of a publication that summarizes workshop proceedings and consensus recommendations. Participants will include patients, family members, clinicians, and basic scientists that span across ages, races, ethnicities, genders, physical abilities, career stages, nationalities, and geographical locations. Our aims are to promote: 1) open dialogue among stakeholders, 2) engagement and exposure of promising young investigators in the field, and 3) advances that accelerate the development of new and effective therapies. These objectives will be met through an exciting scientific program that integrates cutting-edge research presented by leaders in the field within the vital context of input provided by patients and families living with RYR-1-related diseases.