The Muscular Dystrophy Association (MDA) and RYR-1 Foundation have announced an agreement to advance research and clinical care, raise awareness and improve patient, medical and public education about RYR1-related myopathies.
The partnership aims to enhance the quality, quantity and scope of basic, translational and clinical research, bolster the scientific review process, and increase collaboration among researchers.
The MDA is an umbrella organization with a broad perspective on finding treatments and cures for children and adults whose muscular diseases are leading to loss of physical strength, loss of mobility and loss of independence to do basic daily activities. These neuromuscular diseases include central core disease, centronuclear myopathy, multiminicore myopathy or others, caused by a mutation in the ryanodine receptor (RYR-1).
The RYR-1 gene encodes a key protein essential to the regulation of the process that results in skeletal muscle contraction. Mutations in this gene result in amino acid substitutions in a portion of the protein, which leads to contraction abnormalities.
“MDA is strategic in our efforts to pursue partnerships with respected and capable organizations like RYR-1 Foundation, and we’re excited to collaborate with RYR-1 around our common goals,” Steven M. Derks, president and chief executive officer of MDA, said in a press release. “Through our combined efforts, we can speed the pace of discovery, improve quality of life and make a difference in the lives of individuals and families with RYR1-related diseases,” he said.
The nonprofit RYR-1 Foundation was established by members of the Goldberg Family who were affected by RYR-1 muscle disease (myopathies). There is no other organization that works exclusively to advocate for and serve the needs of RYR-1 myopathy patients.
The RYR-1 Foundation’s mission is to fund research that might lead to effective new treatments and cures, and to provide social, emotional and educational support to affected individuals and their families.
“We are thrilled to have developed a formal partnership with MDA, one of the world’s leading organizations dedicated to helping individuals and families affected by neuromuscular diseases,” said Michael F. Goldberg, MD, MPH, and president of the RYR-1 Foundation. “By collaborating with MDA, the RYR-1 Foundation will be able to more effectively to advance research, raise awareness and provide outreach to those affected by RYR-1-related diseases.”
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