The RYR-1 Foundation

The RYR-1 Foundation exists to raise funds that support both basic science and clinical research of RYR-1-related diseases (RYR-1-RD). Funding research gives us the best chance to find a treatment or a cure for this disease.

As of 2023, The RYR-1 Foundation has funded/committed over $1.5 million in RYR-1-RD research. This has already lead to important advances in knowledge and potential therapies.

Acquiring funding for clinical research for a rare disease can be challenging for clinicians and scientists. As a small organization focusing on a single condition, The RYR-1 Foundation has worked successfully with researchers to obtain funding for the translation of basic research to future clinical trials.

The RYR-1 Foundation held three RYR-1 International Family Conference in July 2016, July 2018, and July 2022. Combined, these events have hosted over 550 attendees, representing 150 RYR-1-RD families from ten countries. These conferences are unique opportunities for affected individuals and families to meet, form friendships, and develop a true RYR-1-RD community.

For a rare condition like RYR-1-RD, providing a forum for affected individuals and families to meet others like them has significant psychological value. When an affected individual or their family members seek to find someone else who understands what they are experiencing, a family conference becomes an invaluable and necessary resource. It is a goal of The RYR-1 Foundation to enhance and enrich these relationships within the RYR-1-RD community by hosting International Family Conferences every other year.

To view a documentary about the RYR-1 International Family Conferences, please go to: www.ryr1.org/conferences.

The RYR-1 Foundation was awarded a $50,000 grant from the Oscar & Elsa Mayer Family Foundation to produce a handbook for patients and families affected by RYR-1-related diseases. Difficulty with accessing reliable and easily comprehended information on these rare conditions is a tremendous source of frustration and anxiety for affected individuals and families. The RYR-1 Foundation was able to produce an informative guide with practical and easily understood information. This handbook is free to the public and available for download in multiple languages: www.ryr1.org/ccg.

Chapters Included:

1. The Genetics of RYR-1-RD
2. Clinical Features of RYR-1-RD
3. The Role of Calcium and the Ryanodine Receptor in RYR-1-RD
4. Malignant Hyperthermia (MH)
5. The Lungs/Pulmonology
6. The Bones and Joints/Orthopedics
7. Eating, Swallowing, & Speaking
8. Considerations for School
9. Physical Activity & Physical Therapy (PT)
10. Is There a Treatment for RYR-1-RD?

International research meetings are essential for the dissemination of new scientific discoveries. They are also important for networking and the sharing of ideas among clinicians, basic science researchers, and the pharmaceutical industry. The RYR-1 Foundation has sponsored various meetings, including: Gordon Research Conference, World Muscle Society, International Congress on Neuromuscular Diseases, and European Muscle Conference. The RYR-1 Foundation also co-hosted and sponsored two meetings at the European Neuromuscular Centre (ENMC) specifically on RYR-1-related diseases.

The RYR-1 Foundation hosts biannual Scientific Advisory Board (SAB) meetings as well.

In July 2022, the first-ever patient-led international research workshop devoted exclusively to RYR-1-Related Diseases (RYR-1-RD) was held. There were 45 in-person attendees and ten virtual attendees from eleven different countries, this workshop provided a much-needed forum for the leading international RYR-1-RD experts and group of affected individuals to share knowledge, exchange ideas, form collaborations, and develop new strategies for finding therapies. The Workshop Organizing Committee included a diverse group of researchers/clinicians in RYR-1-RD, members of The RYR-1 Foundations Scientific Advisory Board (SAB), and RYR-1-RD community representatives.

The manuscript arising from this workshop has undergone editorial review and has now been published in the Journal of Neuromuscular Disease, the leading medical journal for neuromuscular diseases. This important publication will serve to educate a worldwide audience on the current state of RYR-1-RD research, and clinical care.