The RYR-1 Foundation was started by members of the Goldberg Family, who have been affected by RYR-1 muscle disease (myopathy). Currently, there is no other organization that exists solely to advocate for and serve the needs of patients with RYR-1 myopathy. The goal of the Foundation is to fill this much-needed void.
The mission of the RYR-1 Foundation is to support research leading to effective treatment or a cure for RYR-1 related diseases.
To achieve this mission, the Foundation has several goals:
1) Support Research: The Foundation hopes to make grants to researchers interested in RYR-1 myopathy. As the only organization solely dedicated to RYR-1 myopathy, we hope to be able to promote research in this area. Developing a patient registry will also be key to promoting clinical trials of potential therapies.
2) Physician Education: The vast majority of physicians have never heard of RYR-1 myopathy. The Foundation hopes to raise awareness through resources on this website, including the latest medical literature, as well as direct meetings with physicians around the world.
3) Patient/family support and advocacy: Due to the rarity of RYR-1 myopathy, receiving this diagnosis can be an anxiety-provoking and isolating experience for a patient/family. It is hoped that this Foundation can serve as a resource for patients and their families. Initially, this will be done through this website and other forms of socal media. In the future, our goal will be to organize family meetings around the country.