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

RYR-1相关疾病国际研究研讨会：从机制到治疗

• 批准号: 10531507
• 负责人: Robert T Dirksen
• 金额: $ 1.5万
• 依托单位: THE RYR-1 FOUNDATION
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-07-15 至 2023-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10531507
• 关键词: Advocate; Affect; Age; Area; Back; Basic Science; Biological Markers; Caring; Classification; Clinical Research; Clinical Trials; Collaborations; Communication; Communities; Consensus; Country; Development; Diagnosis; Disease; Educational workshop; Ensure; Ethnic Origin; European; Family; Family member; Foundations; Gender; Generations; Geographic Locations; Goals; Growth; Guidelines; Individual; International; Knowledge; Language; Muscle; Myopathy; Nationalities; Natural History; Needs Assessment; Netherlands; Neuromuscular Diseases; Outcome; Participant; Pathogenesis; Pathogenicity; Patient Care; Patients; Persons; Phase I Clinical Trials; Phase I/II Clinical Trial; Phenotype; Postdoctoral Fellow; Prevalence; Publications; Quality of life; Race; Recommendation; Research; Research Personnel; Research Priority; Scientist; Students; Therapeutic; Therapeutic Intervention; Time; Translating; United States; United States National Institutes of Health; Validation; Variant; Work; career; clinical care; clinical outcome measures; combat; design; disease natural history; drug development; effective therapy; improved; individual patient; innovation; meetings; mouse model; novel therapeutics; programs; success; symposium; therapeutically effective; treatment optimization

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.

这是部分支持“RYR-1相关疾病国际研究研讨会：来自 Mechanisms to Treatments”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。 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相关疾病临床护理和基础研究领域国际公认的领导者。 该研讨会将由 54 名现场参与者组成，其中包括 18 名临床/研究专家演讲者、6 名 讨论领导者、13 名受邀患者演讲者和 17 名其他参与者（包括至少 5 名） 培训生/年轻研究人员）研讨会课程将重点关注：1）患者感言，2）表型 变异性，3) RYR-1 变异分类，4) 药物开发和验证，5) 流行率和天然 历史研究，6) 疾病机制，7) 治疗管道，以及 8) RYR-1 临床试验 一项重要的研究。 该计划的创新之处在于，每天都会有患者主导的会议，重点关注患者/家属 由患者主导的会议旨在讲述感言、挑战、成功、需求和建议。 帮助民间/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帮助 会员有机会与 RYR-1 相关疾病领域的新人和研究人员直接互动。 我们将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 研讨会结束后，前两次家庭会议共有 388 名与会者，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 年参与人数会更多。 研讨会的三个总体目标是： 目标 1：提供一个论坛，让各单位领导 国际 RYR-1 疾病专家（研究人员、当地人和遗传学家）与受影响的个人、家庭 成员和患者倡导者分享知识、交流想法、形成合作并开发新的 目标 2：建立临床和研究优先事项清单，如 以及推动该领域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，有机会与他们互动和建立联系 该领域的领导者和 RYR-1 相关疾病的患者，以及参与生成 总结研讨会议程和共识建议的出版物。 参与者将包括患者、家庭成员、人群以及跨越年龄、种族、 我们的目标是种族、性别、身体能力、职业阶段、国籍和地理位置。 促进：1）利益相关者之间的公开对话，2）有前途的年轻研究人员的参与和曝光 该领域的进展，以及3）加速新的有效疗法的开发的进展。 将通过一项激动人心的科学计划来满足，该计划整合了各领域领导人提出的尖端研究 该领域的重要背景是患有 RYR-1 相关疾病的患者和家庭提供的意见。