The RYR-1 Foundation Announces the Publication of Updated Entry in the National Organization for Rare Disorders (NORD) Rare Disease Database
The RYR-1 Foundation is excited to announce the publication of the second “Rare Disease Report” on RYR-1-Related Diseases on the website of the National Organization for Rare Disorders (NORD).
NORD is the leading advocacy organization for individuals affected by “rare” diseases, and The RYR-1 Foundation is a proud member of this leading organization. Patients, families, caregivers, physicians, researchers, and advocacy organizations look to NORD for assistance, and the updated report on RYR1-related diseases in the NORD database will be an invaluable resource.
“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 this updated official report for RYR1-related diseases on the NORD website will allow us to help an even greater number of people who are affected by this condition.”
Updating this report was a collaborative effort by:
- Joshua J. Todd, PhD, CCRP, National Institutes of Health
- Michael F. Goldberg, MD, MPH, Co-Founder and President, The RYR-1 Foundation
- Robert T. Dirksen, PhD, University of Rochester
- Nicol C. Voermans, MD, PhD, Radboud University (The Netherlands)
Drs. Dirksen and Voermans are members of The RYR-1 Foundation’s Scientific Advisory Board (www.ryr1.org/scientificadvisoryboard).
About The RYR-1 Foundation
The Pittsburgh, Pennsylvania-based 501(c)(3) public charity was launched in October 2014 by members of the Goldberg family, who have been affected by an RYR1-related 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 RYR1-related diseases, to educate physicians about these diseases, and to provide patient/family support and advocacy.