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

这是一份部分支持RyR-1相关疾病国际研究研讨会的提案：来自 治疗机制“将于2022年7月21日至22日在宾夕法尼亚州匹兹堡举行。这个节目是 由RyR-1相关疾病患者/倡导者和 在RyR-1相关疾病的临床护理和基础研究方面处于国际公认的领先地位。 研讨会将由54名面对面参与者组成，其中包括18名临床/研究专家演讲者，6名 讨论负责人、13名特邀患者演讲者和17名额外参与者(包括至少5名 受训人员/青年调查人员)。研讨会的重点是：1)患者证言，2)表型 可变性，3)RyR-1变异分类，4)药物开发和验证，5)流行率和自然界 病史研究，6)疾病机制，7)治疗管道，8)RyR-1临床试验。一个重要的 该计划的创新方面是，每天都将有以患者为主导的会议，重点是患者/家人 表彰、挑战、成功、需求和建议。以病人为主导的治疗旨在 帮助临床医生/研究人员更好地理解患者的观点，同时也为患者和家人提供 成员有机会与RyR-1相关疾病领域的临床医生和研究人员直接互动。 鼓励所有与会者参加当天举行的为期两天的RyR-1国际家庭会议 就在研讨会结束后。之前的两次家庭会议有388人参加，代表75人 受RyR-1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。 讲习班的三个主要目标是：目标1：提供一个论坛，使各领导机构 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 成员和患者倡导者共享知识、交流思想、形成协作并开发新的 寻找有效治疗方法的策略。目标2：建立临床和研究优先事项清单，如 以及推动这一领域向前发展所需的可行建议。目标3：使受训者能够， 包括学生、博士后研究员和初级研究人员，有机会与 该领域的领导者和RyR-1相关疾病的患者，以及参与产生 总结研讨会会议记录和协商一致建议的出版物。 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 在该领域，以及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，该计划整合了领导人在 在与RyR-1相关疾病的患者和家庭提供的重要投入范围内的领域。

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.