NORD is the leading advocacy organization for individuals affected by “rare” diseases, and The RYR-1 Foundation is excited to have this association.
The RYR-1 Foundation is excited to announce the publication of the first “Rare Disease Report” on RYR-1-Related Diseases on the website of the National Organization for Rare Disorders (NORD). Please click HERE to explore more about RYR-1-related diseases.
NORD is the leading advocacy organization for individuals affected by “rare” diseases, and The RYR-1 Foundation is excited to have this association. The RYR-1 Foundation is also proud to be gaining further recognition by the medical community and to be expanding its ability to provide resources to and advocate for individuals affected by RYR-1.
Notably, this is the first time that NORD has recognized this spectrum of diseases by the unifying mutation in the RYR-1 gene, rather than by the various histopathologic (muscle biopsy) diagnoses (e.g. Central Core disease, Centronuclear myopathy, etc).
“We are grateful to be associated with a highly respected organization such as NORD,” said Michael F. Goldberg, MD, MPH, President of The RYR-1 Foundation. “Having an official report for RYR-1-related diseases on the NORD website will allow us to help an even greater number of people who may be affected by this condition.”
About The RYR-1 Foundation
The Pittsburgh, Pennsylvania-based public charity was launched in October 2014 by members of the Goldberg family, who have been affected by RYR-1 muscle disease. It is currently the only organization that exists solely to advocate for and serve the needs of patients with RYR-1 myopathy, the most common cause of congenital myopathy. The mission of The RYR-1 Foundation is to support research leading to effective treatment or a cure for RYR-1-related diseases, to educate physicians about these diseases, and to provide patient/family support and advocacy. The RYR-1 Foundation is a public charity, designated as a 501(c)(3) by the IRS.