July 2024 Newsletter
July 2, 2024
July 2024 Newsletter

Dear Friends,

Thanks to everyone who has already donated to meet the challenge to raise $40,000 to receive a $40,000 matching donation! With the support of donors, we are almost one-quarter toward the goal of raising $40,000!

The funds will be used for a Prevalence Study for RYR-1-Related Diseases (RYR-1-RD). Prevalence studies determine the amount of individuals that have an RYR-1-RD at a specific point in time or over a defined period of time. Prevalence studies are crucial for understanding the burden of RYR-1-RD, and for informing medical management and treatments for RYR-1-RD.

This specific Prevalence Study involves surveying a sample of individuals with RYR-1-RD by studying existing medical records and databases at specific medical centers within Europe. Establishing the true prevalence of RYR-1-RD will hopefully lead to more investment by pharmaceutical companies, researchers, biotech firms, and venture capital firms in the development of therapies for RYR-1-RD.

It isn’t too late to donate towards this study to receive the $40,000 matching donation! Every dollar is matched dollar for dollar and no donation is too small. Consider joining other donors in supporting this matching campaign to fund this Prevalence Study!

When donating, please “dedicate” the donation for the Prevalence Study!


The Muscular Dystrophy Association (MDA) and The RYR-1 Foundation recently announced the co-funding of a $294,000 research grant. The grant was awarded to Staff Scientist, Joshua Todd, Ph.D., from the National Institute of Neurological Disorders and Stroke. This grant is designed to address the critical need for a database to advance research and therapeutic development for RYR-1-RD.

“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.”

The RYR-1 Foundation looks forward to strengthening its partnership with the MDA.
For more information contact Dr. Mike Goldberg at mike@ryr1.org.

National Press Release From The MDA

A special thank you to all of the members of the RYR-1-RD community who joined The RYR-1 Foundation’s Executive Director & Patient Liaison, Lindsay Goldberg, BSN, RN, and Dr. Mike Goldberg in signing a petition sent to the National Institutes of Health (NIH) to sustain funding for research on RYR-1-RD.

The campaign garnered 1,050 signatures on the petition from the RYR-1-RD community, friends, and families! A letter, with all of the signatures attached, was sent to NIH Deputy Director of Intramural Research, Nina Schor, MD, Ph.D. The letter also included comments from those who signed, noting why this funding for RYR-1-RD research is important.

The RYR-1 Foundation is the only organization in the world that is dedicated to supporting research, providing medical education, providing patient/family support, and advocacy for those affected by RYR-1-RD.

“Thanks again to all who signed, shared, and supported this initiative, showing Strength in Numbers,” said Lindsay Goldberg. “We deeply appreciate the engagement of the RYR-1-RD community in this advocacy effort to preserve funding for RYR-1-RD research at NIH.”

For more information contact Lindsay Goldberg at lindsay@ryr1.org or Patricia Raffaele at patricia@ryr1.org.

For those interested in finding a healthcare provider, The RYR-1 Foundation has Locate A Provider, a web page dedicated to locating healthcare providers familiar with RYR-1-RD. Having a resource like this is not only valuable to those affected by a RYR-1-RD, but also to healthcare providers who have patients with RYR-1-RD who do not have familiarity with this umbrella of diseases.

For healthcare providers with experience with RYR-1-RD, and who are interested in being listed, please complete the Provider Application at the top of the web page.

For more information contact Lena Leghart at lena@ryr1.org or Lindsay Goldberg at lindsay@ryr1.org.

Locate a Provider

The RYR-1 Foundation recently appointed two new individuals to serve on its Board of Directors. Joining the Board of Directors are Susan Hamilton, Ph.D. and Courtney Woomer, BS.

Susan Hamilton, Ph.D., is a professor and chair of the Department of Integrative Physiology at Baylor College of Medicine. Her laboratory created some of the first mouse models of RYR-1 myopathies and used these models to elucidate disease mechanisms and identify new therapeutic targets.

Courtney Woomer, BS, is a native of Lexington, Kentucky, and resides there with her husband and her three daughters. Her youngest daughter, Maisie, has a recessive form of an RYR-1-related disease. Both professionally and personally, she is a champion for those who struggle, and admires their resilience and ability to overcome. She serves as the HR Manager for Kentucky Primary Care Association, a nonprofit with the mission of providing healthcare to the underserved in rural areas of Kentucky.

“We are delighted to add Courtney and Susan to the Board of Directors,” said Dr. Mike Goldberg. “Courtney and Susan bring important perspectives to the Board, as well as their commitment and passion in understanding RYR-1-RD and supporting the RYR-1-RD community.”

For more information contact Lindsay Goldberg at lindsay@ryr1.org or Dr. Mike Goldberg at mike@ryr1.org.

Meet The New Directors

The RYR-1 Foundation is excited to feature the Woomer family in its upcoming mid-year letter. Read about Courtney Woomer and her family’s journey with Maisie’s diagnosis of an RYR-1-RD, and why Courtney calls Maisie her “hero.”

In addition, read about the exciting progress The RYR-1 Foundation has made in the first half of this year and how support from the RYR-1-RD community makes this work possible!


Close close
Newsletter Registration