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

这是部分支持“ryr -1相关疾病国际研究研讨会”的建议：来自

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.