Dear Friends,
Spring brings exciting opportunities for our community to advance research, access resources, and connect with one another. I am thrilled to share several updates that highlight the progress we continue to make together.
We are now accepting applications for our 2026 – 2028 Individual Investigator Research Grants, supporting innovative research to accelerate treatments and cures for RYR-1-Related Diseases (RYR-1-RD). We encourage researchers worldwide to submit proposals in our priority areas. These grants are a critical step toward transforming scientific discoveries into real-world treatments.
We are also proud to highlight important new research from two members of The RYR-1 Foundation’s Scientific Advisory Board, Dr. Andrew R. Marks and Dr. Robert T. Dirksen. They co-authored a recent study published in The Journal of Clinical Investigation examining how statins (cholesterol-lowering drugs) may contribute to muscle weakness associated with the ryanodine receptor 1 (RyR1).
I am also proud to announce that The TJX Foundation, Inc. has generously provided funding for our Family Conferences, ensuring we can bring together patients, families, and medical experts for a meaningful time of education, connection, and encouragement. Family Conferences are the heart of our community, and this support allows us to make them even more impactful.
In addition, Global Genes provides trusted resources to help patients and families navigate their healthcare journey, from understanding rare diseases to connecting with support networks. We invite you to join Triage Health’s webinar on March 24 for practical guidance on navigating coverage hurdles.
Finally, I want to highlight an ongoing opportunity to contribute to research through the NIH Natural History Study on RYR-1-RD. Participation in this study is a meaningful way to help advance understanding and improve future care and treatments for our community.
Every step we take, through research, education, advocacy, and connection, brings us closer to a world where RYR-1-RD can be better understood, managed, and treated. Our progress is possible because of you, and because we believe in the power of Strength in Numbers. Thank you for being an essential part of this community.
Best,
 |
| Lindsay Goldberg, BSN, RN Executive Director, Patient Liaison & Co-Founder The RYR-1 Foundation |
The RYR-1 Foundation is now accepting applications for its 2026 – 2028 grant cycle, supporting innovative research aimed at advancing treatments and cures for RYR-1-Related Diseases (RYR-1-RD). We invite researchers and scientists to submit proposals that address our priority areas:
Research Priority Areas (RPA):
-
Readthrough Therapies for RYR-1-Related Disease (RYR-1-RD) Due to Nonsense Variants
-
Variant-Agnostic Therapeutic Strategies for Dominant Forms of RYR-1-Related Myopathy
Eligibility
Applicants must hold a Ph.D., M.D., D.V.M., D.O., or equivalent degree and have a faculty or equivalent position at a domestic or international nonprofit organization, or at a public or private institution such as a university, medical school, hospital, or research institute.
About the Award:
The Individual Investigator Research Grant Awards are designed to support high-impact research with strong potential to advance the development of effective treatments and cures for RYR-1-RD.
Key Dates:
-
Application Deadline: May 16, 2026
-
Funding Decision Announced By: July 17, 2026
Learn More:
Program Guidelines and additional information are available on our website.
For questions, please contact Lena Leghart, Program Manager.
Two members of The RYR-1 Foundation’s Scientific Advisory Board, Dr. Andrew R. Marks and Dr. Robert T. Dirksen, co-authored the article, titled “Structural basis for simvastatin-induced skeletal muscle weakness associated with type 1 ryanodine receptor T4709M mutation,” published in The Journal of Clinical Investigation.
Statins are widely used to lower cholesterol and reduce heart disease risk. While most people tolerate them well, about 1 in 10 experience muscle-related side effects such as aches or weakness, and some must stop treatment because of severe symptoms.
The study points to a possible explanation. It focuses on a key muscle protein called ryanodine receptor 1 (RyR1) that controls calcium, which is essential for muscle contraction. In individuals with certain genetic differences, this calcium “gate” may already be more sensitive. The commonly prescribed statin simvastatin appears to bind to RyR1 and keep it open too long, causing a calcium “leak” that may lead to muscle pain and weakness.
“I was challenged at a meeting about 20 years ago to try and figure out what causes statin-induced muscle side effects,” said Dr. Andrew R. Marks. “So it took me a long time, but I think we have figured out that if you have a leaky RyR1 channel you may be predisposed to have statin muscle side effects (soreness, weakness, etc.). There is still a lot more work to do to try and design statins that do not bind to RyR1 and maybe have fewer side effects.”
In a mouse model with a mutation linked to severe statin intolerance, simvastatin caused muscle weakness. A second drug that stabilized the calcium gate prevented these effects.
Overall, the findings suggest that genetic factors may increase susceptibility to statin-related muscle symptoms and could help guide future prevention and treatment strategies.
The RYR-1 Foundation is deeply honored and sincerely grateful to announce that we have received a generous grant from The TJX Foundation, Inc. in support of our Family Conferences.
This meaningful contribution will play a vital role in helping us bring together individuals and families affected by RYR-1-Related Diseases (RYR-1-RD) for a powerful time of education, connection, and encouragement. Our Family Conferences serve as a cornerstone event for our community, providing access to leading medical experts, the latest research updates, practical resources, and the invaluable opportunity for families to meet others who truly understand their journey.
Thanks to the support of The TJX Foundation, Inc., we will be able to enhance the conference for all. Partnerships like this make a lasting difference. We are incredibly thankful for The TJX Foundation, Inc.’s belief in our work and in the strength of the RYR-1-RD community. Together, we look forward to making our future Family Conferences our most impactful gatherings yet.
Global Genes is a nonprofit that equips rare disease advocates with the tools and training to lead, connect communities, advance research, and accelerate treatment because progress happens fastest when patients lead the way. They offer a wide range of trusted resources designed to support and empower the rare disease community. Whether you are newly diagnosed, supporting a loved one, or seeking to deepen your understanding, their tools and educational materials can help guide the journey.
Key areas of focus include:
-
Learn – Explore educational materials designed to inform and empower patients and caregivers
-
Know Your Family History – Learn how to document and understand your family health history to determine whether certain conditions may run in your family
-
RARE Disease Facts – Access clear, reliable information about rare diseases to better understand diagnoses, symptoms, and treatment options
-
Resource Hub – Find curated tools, support services, and connections tailored to specific conditions
In addition to these core areas, Global Genes provides podcasts, videos, blogs, personal stories, toolkits, and research reports to help patients and families feel informed, prepared, and connected.
These resources can help individuals and families better understand their condition, navigate their healthcare journey, and build a stronger support network along the way.
Learn More
Join Triage Health’s staff attorney, Kathryn Strobach, Esq., for an informative webinar, “Steps to Navigate Common Insurance Hurdles,” on March 24 at 1:00 pm ET. This session will provide practical guidance on understanding and overcoming common insurance barriers, including prior authorizations, coverage denials, co-pay accumulators, alternative funding plans, step therapy, telehealth, and more.
Attendees will gain insight into how these policies can create challenges in accessing care and understanding healthcare costs. The webinar will also offer actionable strategies to help navigate and address these obstacles effectively.
Participants will have the opportunity to ask questions and engage directly with the speaker in real time through a live chat feature.
There is still an opportunity to take part in the Natural History Study on RYR-1-Related Disorders (RYR-1-RD) currently underway at the National Institutes of Health (NIH). This important research seeks to deepen understanding of how RYR-1-RD presents and progresses over time in both children and adults, helping to inform future care and treatment approaches.
The study is led by Tokunbor A. Lawal, PhD, FNP-BC, an independent research scholar in the NIH’s Division of Intramural Research.
Who Can Participate?
-
Individuals 7 years of age or older
-
Those with a confirmed genetic diagnosis of RYR-1-RD
-
U.S. residents
Who Is Not Eligible?
-
Individuals diagnosed with other neuromuscular conditions that cause muscle weakness
Interested in Participating?
To learn more or determine eligibility, please contact the NIH Office of Patient Recruitment at (800) 411-1222 or ccopr@nih.gov. When reaching out, reference Research Study #001737-CC.
Your participation can make a meaningful difference; helping advance research, improve understanding, and support the development of future treatments for the RYR-1-RD community.
