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28 Oct 2015

Ryr-1 Foundation, a very active patient group

Illustration for article: Ryr-1 Foundation, a very active patient group
This American foundation initiated a patient self-reporting registry and is well-known to support research and promote clinical trials of potential therapies.
The mission of the RYR-1 Foundation is to support research in RYR-1 myopathy and to serve the needs of patients with this particularly rare myopathy. This rarity requires the Foundation to sensitize the medical profession to the specificities in RYR-1 myopathy. (medical literature, direct meetings...)
The Foundation also aims at becoming a resource for patients and their families. 
 
For instance, RYR-1 Foundation is planning a meeting in Baltimore, Maryland, on 22-24 July 2016, where families and physicians can meet, listen to each other and exchange.
 
A call for proposals has been launched :  http://www.ryr1.org/#!grantapplication/c17ww 
 
AFM-Téléthon obviously shares and supports the fight of this patients’ group against rare diseases, including various forms of congenital myopathies. 
 
 
RYR-1 muscle disease is an inherited form of muscle weakness ranging in severity from mild weakness to severe disability. It is caused by an inability of skeletal muscles to process calcium, a critical component of muscle contraction. Patients are also at risk for a life-threatening complication of general anesthesia