Pittsburgh Rare Disease Foundation Opens Grant Applications on Rare Disease Day

Updated on March 4, 2024

The RYR-1 Foundation, a Pittsburgh-based global rare disease organization, announced that it is opening a new grant opportunity in honor of Rare Disease Day, which is today, February 29, 2024.

Rare Disease Day has been held every year on February 28th or 29th (in leap years), as an international movement raising awareness and generating change for the 300 million people worldwide living with a rare disease. The day is chosen because these are “the rarest days in the year.”

“We are excited to announce this grant opportunity today, Rare Disease Day,” said Executive Director, Lindsay Goldberg, BSN, RN. “We are the only organization in the world that solely exists to advocate for and serve the needs of individuals with RYR-1-Related Diseases (RYR-1-RD). Funding research is the only way to find a treatment or cure for RYR-1-RD and could potentially be life changing for affected individuals and their families.”

The RYR-1 Foundation supports families and those affected by RYR-1-RD; works with leading researchers around the world; and supports the medical community. To date, the organization has provided more than $1.5 million dollars in funded research grants.

“These research grants are designed for concentrated research in areas that will have the greatest potential to move towards treatments and cures for RYR-1-RD,” said Michael Goldberg, MD, MPH, president of the Board of Directors. “As someone who is affected by an RYR-1-RD, I also understand first-hand the importance of building a community of similarly-affected individuals and families and the importance of research.”

The $480,000 of grant funding will be distributed to individual investigators in specific research priority areas in early 2025. The deadline to submit Letters of Intent is May 18, 2024.

RYR-1-RD are forms of muscle disease resulting in a wide range of symptoms, including muscle weakness, a potentially fatal reaction to general anesthesia (malignant hyperthermia), severe muscle breakdown (rhabdomyolysis), among others. Individuals are born with RYR-1-RD, related to mutations in the RyR1 gene. Mutations in the RyR1 gene are the most common cause of congenital muscle disease.

“We are looking forward to receiving letters of intent, and subsequently the final applications from the leading muscle researchers around the world,” said Dr. Michael Goldberg. “This opportunity is of utmost importance as we support research leading to an effective treatment or a cure for RYR-1-RD.”

For more information about The RYR-1 Foundation visit www.ryr1.org.
For more information about the grant and the Letters of Intent visit
www.ryr1.org/grants. For more information about Rare Disease Day visit www.rarediseaseday.org.

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