Dear Friends,

May the Fourth Be With You and with our entire RYR-1-Related Diseases (RYR-1-RD) community as we continue to push forward in the pursuit of progress and hope.

Advancing rare disease research requires urgency, collaboration, and a shared commitment to making a difference. At The RYR-1 Foundation, we are proud to share important updates that reflect all three.

In this issue, we highlight the approaching deadline for our 2026 – 2028 Research Grant Cycle, an important opportunity to accelerate high-impact studies focused on advancing treatments for RYR-1-RD. We also share promising new research that expands our understanding of Dusty Core Disease, along with opportunities for connection and support through an upcoming webinar focused on emotional resilience hosted by Triage Health.

We’re also excited to give you a preview of The RYR-1 Foundation’s 2026 webinar series, which will cover a range of important topics, from heat illness awareness and nutrition to malignant hyperthermia, statins, and collaborative sessions on rhabdomyolysis and periodic paralysis. These webinars are designed to provide practical guidance, expert insights, and meaningful opportunities for engagement across our community.

Finally, we invite you to learn more about a critical NIH clinical research study that continues to enroll participants and plays a vital role in shaping the future of care and treatment for individuals and families affected by RYR-1-RD.

Thank you for being an essential part of this mission. Together, in Strength In Numbers, we are driving progress, strengthening our community, and bringing hope closer to reality.

Best,

Lindsay Goldberg, BSN, RN Executive Director, Patient Liaison & Co-Founder The RYR-1 Foundation

This is an important reminder that The RYR-1 Foundation is currently accepting applications for the 2026 – 2028 Research Grant Cycle, and the deadline is quickly approaching. This funding opportunity supports innovative scientific research aimed at advancing treatments and potential cures for RYR-1-Related Diseases (RYR-1-RD). We strongly encourage investigators to begin finalizing and submitting their proposals soon.

This grant program is open to qualified researchers holding a Ph.D., M.D., D.V.M., D.O., or equivalent degree, with a faculty or equivalent appointment at a nonprofit research institution, university, medical school, hospital, or comparable organization. This round of Individual Investigator Research Grant Awards is designed to support high-impact projects that focus on readthrough therapies for nonsense variants and variant-agnostic therapies for dominant forms of RYR-1-related myopathy, with strong potential to accelerate therapeutic development for RYR-1-RD.

Key Dates to Remember:

• Application Deadline: May 16, 2026

• Funding Decisions Announced By: July 17, 2026

Program Guidelines and additional information are available on our website. For any questions, please contact Lena Leghart, Program Manager.

Apply Here

We are excited to highlight an important new study published in the European Journal of Human Genetics titled “Expanding the Genetic Landscape of Dusty Core Disease: New RYR1 Variants in Italian Patients.” This research adds to our growing understanding of how changes in the RYR1 gene can lead to rare muscle disorders. The investigators identified previously unreported genetic variants in several patients, helping to broaden what clinicians and researchers know about Dusty Core Disease, a rare congenital myopathy associated with muscle weakness and structural changes within muscle fibers.

In simple terms, this study helps explain why symptoms in individuals with RYR-1-related diseases can look very different from person to person. Some may experience significant muscle weakness early in life, while others may not develop symptoms until later. By identifying new genetic mutations and better describing the disease pattern, this work may help improve earlier diagnosis, more accurate genetic counseling, and future treatment research for patients and families affected by RYR-1-related myopathies. This is another exciting step forward in advancing knowledge and awareness within our community.

Full Article

We’re excited to share a preview of our upcoming 2026 webinar series at The RYR-1 Foundation. These sessions are designed to provide valuable insights, practical guidance, and the latest research developments for individuals and families impacted by RYR-1-Related Diseases (RYR-1-RD).

This year’s lineup will cover a range of important and timely topics, including:

• Exertional Heat Illness (EHI) & heat stroke awareness in individuals with RYR1 mutations

• Nutrition for neuromuscular diseases

• A proposed approach for testing individuals at risk for malignant hyperthermia

• Statins and RYR-1-RD

• Rhabdomyolysis and RYR-1-RD, in collaboration with The Rhabdomyolysis Foundation

• Periodic paralysis and RYR1 mutations, in collaboration with the Periodic Paralysis Association

Be sure to stay tuned for additional details, including registration information and opportunities to submit your questions in advance. We look forward to having you join us for these informative and engaging sessions.

We invite you to join Triage Health on May 27, 2026 at 1:00 pm ET for an important webinar in recognition of Mental Health Awareness Month, focused on the emotional impact of uncertainty for individuals living with serious health conditions and their caregivers. Uncertainty can be one of the most challenging aspects of managing illness, often contributing to stress, worry, and emotional exhaustion.

This session will explore why uncertainty can feel so overwhelming and will offer practical, real-world strategies to help participants better navigate these experiences. Attendees will learn tools to strengthen self-awareness, better understand their emotional responses, and develop sustainable coping strategies to support resilience during times of change.

By the end of the session, participants will be able to:

• Describe the emotional and psychological impact of uncertainty on individuals and caregivers

• Identify self-awareness practices that help clarify personal needs during stressful periods

• Apply practical strategies to manage overwhelming emotions such as fear, worry, and frustration

Registration is now open. Please use the link below to sign up and reserve your spot for May 27, 2026 at 1:00 pm ET. We encourage early registration as space may be limited.

Register Here

The Natural History Study of RYR-1-Related Disorders (RYR-1-RD) is still actively enrolling participants at the National Institutes of Health (NIH). This important study is helping researchers better understand how RYR-1-RD develops and progresses over time in both children and adults. The knowledge gained will play a critical role in guiding future research, improving clinical care, and supporting the development of new therapies.

The study is led by Tokunbor A. Lawal, PhD, FNP-BC, an independent investigator within the NIH Division of Intramural Research.

Who Can Participate:

• Individuals aged 7 years and older

• Those with a confirmed genetic diagnosis of RYR-1-RD

• US residents

Who Is Not Eligible:

• Individuals with other neuromuscular conditions that also cause muscle weakness

If you are interested in learning more or determining eligibility, please contact the NIH Office of Patient Recruitment at (800) 411-1222 or ccopr@nih.gov, and reference Study #001737-CC.

Participation in this study is a meaningful way to contribute to advancing scientific understanding of RYR-1-RD. Each participant helps move research forward and brings us closer to improved treatments and outcomes for the community.

Natural History Flyer

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