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Muscular Dystrophy Association Announces Collaborative Infrastructure Research Grant with Support from RYR-1 Foundation for Nearly $300,000 to Joshua Todd, PhD at NIH for RYR-1 Genetic Database Development

New York, Monday, June 12, 2024 — The Muscular Dystrophy Association (MDA) announced today an Infrastructure Research Grant continuing its longstanding collaborative work with the RYR-1 Foundation. Joshua Todd, PhD, of the National Institute of Neurological Disorders and Stroke (NINDS), NIH will receive $294,670.11 to support a crucial database to collect information on genetic disorders involving the RYR-1 gene that regulates calcium during muscle contractions. This grant, supplemented by $25,000 from The RYR1 Foundation, aims to address the critical need for a dedicated database to advance research and therapeutic development for RYR1-related disorders.

“The database will allow users to efficiently identify which variants are already being investigated under a given therapeutic paradigm. This will minimize redundancy and encourage new avenues of therapeutic discovery,” said Dr. Todd.

“RYR1-related disorders represent a complex group of neuromuscular conditions that require careful management and support. Research into these disorders, such as the establishment of comprehensive databases and the development of targeted therapies, is critical for advancing our understanding and improving clinical outcomes for affected individuals. The research from this grant marks a pivotal step forward in our efforts to accelerate research and therapeutic development for the families served by Muscular Dystrophy Association’s mission. This initiative holds immense promise for advancing our understanding of RYR1-related disorders and ultimately, improving clinical outcomes," said Sharon Hesterlee, PhD, Chief Research Officer, Muscular Dystrophy Association.

This MDA Infrastructure Research Grants underscore the MDA's steadfast commitment to driving progress in neuromuscular diseases. By investing in cutting-edge research initiatives, the MDA is empowering scientists and institutions to pursue innovative approaches and accelerate the development of life-changing therapies.

“We are thrilled to continue our partnership with the Muscular Dystrophy Association, the world’s leading organization dedicated to helping individuals and families living with neuromuscular diseases,” said Michael F. Goldberg, M.D., MPH, President, Board of Directors of The RYR-1 Foundation and Co-Chair of Research. “By collaborating with the MDA, The RYR-1 Foundation will be able to more effectively advance research, raise awareness, and provide outreach to people living with RYR-1-related diseases.” As someone who is affected by RYR-1-RD, Dr. Goldberg understands first-hand the importance of similarly affected individuals and families.

Central core disease, centronuclear myopathy, multiminicore myopathy and other diseases caused by a mutation in the ryanodine receptor (RYR-1) are among the neuromuscular diseases MDA fights as an umbrella organization with a big-picture perspective on finding treatments and cures for children and adults whose weakening physical strength and loss of mobility make the most basic daily activities extraordinarily challenging.

About MDA Infrastructure Research Grants

MDA Infrastructure Research Grants are awarded through a rigorous selection process to accelerate progress toward effective therapies and ultimately, cures. These grants are designed to support the development of tools, techniques, and services of need to the neuromuscular research community. The main review criterion for this grant is the need for the infrastructure to further research for the purpose of therapy development. Recipients of an MDA Infrastructure Research Grant must develop a plan to make this MDA-funded resource available to the research community and have a plan for sustaining the infrastructure beyond the period of MDA support. Letters of support from the community are an essential part of the application. MDA research grants go towards spearheading innovative projects with the potential to revolutionize the field of muscle disease research. For more information about the Muscular Dystrophy Association and its research initiatives, please visit MDA.org/Research.

About Muscular Dystrophy Association

Muscular Dystrophy Association (MDA) is the #1 voluntary health organization in the United States for people living with muscular dystrophy, ALS, and related neuromuscular diseases. For over 70 years, MDA has led the way in accelerating research, advancing care, and advocating for the support of our families. MDA's mission is to empower the people we serve to live longer, more independent lives. To learn more visit mda.org and follow MDA on Instagram, Facebook, X, Threads, TikTok, LinkedIn, and YouTube.

About RYR-1 Foundation

The RYR-1 Foundation is a nonprofit public charity, designated as a 501(c)(3) by the IRS. Currently, there is no other organization that exists solely to advocate for and serve the needs of individuals and their families affected by RYR-1 Related Diseases (RYR-1-RD). The goal of The RYR-1 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-RD. Learn more at www.ryr1.org.