Authors: Thomas N. O’Connor, Luuk R. van den Bersselaar, Yu Seby Chen, Stefan Nicolau, Brentney Simon, Andrew Huseth, Joshua J. Todd, Filip Van Petegem, Anna Sarkozy, Michael F. Goldberg, Nicol C. Voermans and Robert T. Dirksen, on behalf of the RYR1 Myopathy Consortium
The “RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments,” held from July 21 – July 22, 2022, was the first-ever patient-led international research workshop devoted exclusively to RYR1-related diseases (RYR1-RD). The workshop organizing committee was led by Robert Dirksen and included: Andrew Huseth, Anna Sarkozy, Brentney Simon, Filip Van Petegem, and Nicol Voermans. The committee held regular meetings to discuss the aims, prepare the program, and reach a consensus on clinical and research priorities.
The overall scientific goal of the workshop was to provide a forum that united leading international RYR1 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. Additional objectives were to develop consensus recommendations for clinical/research priorities, create actionable items needed to move the field forward, and provide a platform for trainees to engage with established leaders in the RYR1 field and individuals affected or afflicted by RYR1-related diseases.