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. Funding research gives us the best chance to find a treatment or a cure for this disease.

As of 2021, The RYR-1 Foundation has funded/committed over $1.7 million in RYR-1-related research. This has already lead to important advances in knowledge and potential therapies.

The RYR-1 Foundation held the first ever RYR-1 International Family Conference in July 2016 in Baltimore and the second in July 2018 in Pittsburgh. Combined, these events have hosted 388 attendees, representing 75 RYR-1-affected families from 31 states and eight countries. These conferences are unique opportunities for affected individuals and families to meet, form friendships, gain knowledge, and develop a true RYR-1 community.

For a rare condition like RYR-1-related diseases, providing a forum for affected individuals and families to meet others like them has significant psychological value. It is a goal of The RYR-1 Foundation to enhance and enrich these relationships within the RYR-1 community by hosting biennial International Family Conferences.

The third RYR-1 International Family Conference is scheduled for July 22-24, 2022 in Pittsburgh, PA USA.

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 Foundation has also co-hosted and sponsored a meeting at the European Neuromuscular Centre specifically on RYR-1-related diseases.

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

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 will host it's first ever Patient-Led International RYR-1 Scientific Workshop on July 20-22, 2022 in Pittsburgh, PA USA. This workshop will consist of affected individuals, researchers, doctors, and medical professionals.