RYR-1-Related Diseases International Research Workshops
2025 RYR-1-Related Diseases Patient-Led International Research Workshop: Novel Perspectives, Treatments & Interventions
July 23 – July 24, 2025
Hyatt Regency Pittsburgh International Airport
Pittsburgh, PA, USA
The RYR-1 Foundation hosted its second RYR-1-Related Diseases (RYR-1-RD) Patient-Led International Research Workshop at the Hyatt Regency Pittsburgh International Airport. The event took place immediately prior to The RYR-1 Foundation International Family Conference 2025 .
This unique Research Workshop brought together an international group of researchers, clinicians, medical professionals, trainees/young investigators, and affected families with a shared focus on advancing knowledge and collaboration in RYR-1-RD. Over 40 attendees from 8 countries participated, reflecting the truly global nature of the effort to better understand and treat RYR-1-RD. Designed to foster meaningful dialogue and scientific exchange, the Research Workshop highlighted both cutting-edge research and the lived experiences of those affected by RYR-1-RD.
The Research Workshop Co-Directors include members of The RYR-1 Foundation’s Board of Directors, Board of Advisors, and Scientific Advisory Board. The Co-Directors are:
- Michael F. Goldberg, MD, MPH
- Johanna Lanner, PhD
- Livija Medne, MS, LCGC
- Payam Mohassel, MD
- Jinson Paul, MBA
- Emily Pedersen
- Mairéad Ryan, BS, V27
A hallmark of this Research Workshop is the integration of patient and family testimonials, which were featured in each session to ensure the patient voice remains central to the research conversation.
The Research Workshop agenda included the following main sessions:
- Diagnosis & Genetics of RYR-1-RD
- Establishing Clinical Trial Readiness for RYR-1-RD
- Novel Insight into RyR1 Interplay and Cell Pathophysiology
- Translational Studies & Therapeutics Development – Part I
- Therapeutic Pipeline
- Physical Therapy & Exercise Approaches in RYR-1-RD
Together, these sessions reflected the growing momentum in the field and underscored the importance of collaboration across disciplines to improve outcomes for individuals living with RYR-1-RD.
2025 Research Workshop Program
2025 Sponsor Recognition
2025 Grant Recognition
2022 RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments
July 21 – July 22, 2022
Hyatt Regency Pittsburgh International Airport
Pittsburgh, PA, USA
This was the first-ever patient-led international research workshop devoted exclusively to RYR-1-Related Diseases (RYR-1-RD), preceding the 2022 RYR-1 International Family Conference. With 45 in-person attendees and ten virtual attendees from 11 different countries, this workshop provided a much-needed forum for the leading international RYR-1-RD experts and a group of affected individuals to share knowledge, exchange ideas, form collaborations, and develop new strategies for finding therapies. The Workshop Co-Directors included a diverse group of researchers/clinicians in RYR-1-RD, members of The RYR-1 Foundation’s Scientific Advisory Board (SAB), and RYR-1-RD community representatives.
2022 Research Workshop One-Page Flyer
2022 Research Workshop Program
The RYR-1 Foundation is elated to report that the manuscript arising from this workshop has undergone editorial review and has now been published in the Journal of Neuromuscular Diseases, the leading medical journal for neuromuscular disease. This important publication will serve to educate a worldwide audience on the current state of RYR-1-RD research, and clinical care. As important, this document will also serve to guide future research efforts to expedite the development of effective therapies.
2022 Research Workshop Publication
2022 Grant Recognition
The RYR-1 Foundation would like to thank the Muscular Dystrophy Association (MDA) and the National Institutes of Health (NIH) for their support of the 2022 RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments. We are extremely grateful for the MDA’s and NIH’s grants to help us host this one-of-a-kind workshop. On behalf of all individuals and families affected by RYR-1-RD, The RYR-1 Foundation expresses our sincerest gratitude.
Funding for this conference was made possible (in part) by (1R13AR081619-01) from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). The views expressed in written conference materials or publications and by speakers and moderators do not necessarily reflect the official policies of the Department of Health and Human Services; nor does mention by trade names, commercial practices, or organizations imply endorsement by the U.S. Government.
2022 RYR-1-Related Diseases International Research Workshop Gallery
