Dear Friends,
I hope you are enjoying a wonderful start to the summer season and finding time for moments of rest, connection, and joy with family and friends.
As we reflect on the incredible momentum within the RYR-1-Related Diseases (RYR-1-RD) community, we are filled with gratitude and hope for all that we continue to accomplish together.
This season has been marked by extraordinary generosity, meaningful progress in research, and powerful moments of connection across our community. We are especially honored to share the tremendous success of the E.E. Reed Construction East Coast Charitable Golf Tournament, which raised an incredible $140,000 in support of The RYR-1 Foundation. Seeing so many individuals, families, industry leaders, and advocates come together in support of those affected by RYR-1-RD was both inspiring and deeply moving.
Their generosity directly fuels our mission to advance research, expand educational opportunities, and provide meaningful support for families navigating RYR-1-RD. From the 13 international research grant submissions received last month to new educational webinars, continued collaboration with leading experts in malignant hyperthermia and neuromuscular care, and the launch of a new Phase 2 clinical trial evaluating Surlorian (ARM210, S48168) for adults with autosomal dominant RYR1-related myopathy, we are witnessing growing global commitment to improving the lives of individuals affected by these rare diseases.
We also want to share an opportunity for families who may be interested in attending Rare Family Day 2026, hosted by the EveryLife Foundation for Rare Diseases and Ultragenyx on October 3, 2026, in the San Francisco Bay Area. Selected families may receive travel stipends covering transportation, lodging, and meals to support participation in this community gathering. The application is open through June 26, with notifications sent by the end of July.
Most importantly, this progress is driven by people; families who share their stories, researchers dedicated to discovery, clinicians working to improve care, and supporters who believe in a brighter future for our community.
Thank you for being part of this journey with us. Together, we are creating awareness, advancing science, strengthening support, and moving closer to better treatments and, ultimately, a cure.
Best,
 |
| Lindsay Goldberg, BSN, RN Executive Director, Patient Liaison & Co-Founder The RYR-1 Foundation |
The RYR-1 Foundation was honored to be selected as the charitable beneficiary of this year’s E.E. Reed Construction East Coast Golf Tournament, where an incredible $140,000 was raised to support individuals and families affected by RYR-1-Related Diseases (RYR-1-RD).
Held at The Golf Club at Lansdowne in Leesburg, Virginia, the event brought together 240 golfers, industry partners, colleagues, and friends in support of advancing research, awareness, and community support for RYR-1-RD.
For families like the Sollenbergers, the event carried deep personal meaning. “When our son Van was diagnosed with an RYR1-related myopathy, The RYR-1 Foundation became a lifeline for our family,” shared Stan Sollenberger. “To see so many people rally behind this cause — many learning about RYR1 for the very first time — was incredibly moving. Watching so many people come together in support of families like ours gave us a tremendous sense of hope for the future.”
We extend our sincere gratitude to E.E. Reed Construction East Coast, all sponsors, participants, and supporters who made this event such a meaningful success.
To learn more about organizing a fundraiser in support of The RYR-1 Foundation, visit our website!
We are excited to share that we received a total of 13 grant submissions for our 2026 – 2028 grant cycle! Applications were submitted from researchers across six different countries, reflecting the growing global commitment to advancing research for RYR-1-Related Diseases (RYR-1-RD).
This grant cycle’s research priority areas were:
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Readthrough Therapies for RYR-1-Related Disease (RYR-1-RD) Due to Nonsense Variants grant
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Variant-Agnostic Therapeutic Strategies for Dominant Forms of RYR-1-Related Myopathy grant
We are incredibly encouraged by the level of interest and innovation represented in this year’s proposals and are grateful to all of the researchers who applied.
“It is incredibly gratifying to see 13 high-quality grant applications submitted for RYR-1-RD research. This level of interest reflects the growing visibility of The RYR-1 Foundation and the increasing recognition of the importance and impact of RYR-1-RD research within the scientific and medical communities.” said Dr. Michael Goldberg, Board President & Co-Chair of Research of The RYR-1 Foundation.
Our Scientific Advisory Board will now begin the review process, and we look forward to announcing the two grant recipients in September. Stay tuned for more exciting updates as we continue working to advance research and bring hope to the RYR-1-RD community!
Join The RYR-1 Foundation on July 27, 2026, at 1 pm ET for an informative and engaging educational webinar featuring nutrition experts Daniela Grote, MS from the Center for Nutritional Medicine and Prevention at Barmherzige Brüder Hospital in Munich and Jessica Nieves, MS, RD, LD, from Nationwide Children’s Hospital.
This special webinar will focus on the important role nutrition plays in supporting individuals living with neuromuscular diseases. Attendees will hear from experienced professionals and will gain practical guidance on nutritional considerations and strategies that may help support overall health and quality of life.
The session will also provide an opportunity for families, caregivers, patients, and healthcare professionals to learn more about how nutrition can impact strength, energy, growth, and wellness in those affected by neuromuscular diseases. Whether you are newly diagnosed or have been navigating RYR-1-RD for years, this webinar aims to provide valuable information and helpful resources for the community.
Participants are encouraged to submit questions in advance between now and July 10, 2026, to help guide the discussion and ensure the topics most important to the community are addressed. Registration will open on June 28, 2026, and remain available until the start of the webinar. Be sure to watch for additional details and registration information via email and social media on June 28th.
| Pre Questions for Webinar |
We are proud to share that Sheila Riazi, M.D., M.Sc., a member of The RYR-1 Foundation’s Scientific Advisory Board, co-authored the article, A Proposed North American Approach for Genetic Testing of Individuals at Risk for Malignant Hyperthermia, alongside leaders in malignant hyperthermia, including Stacey Watts, MBA, MHPE, FASA, President of Malignant Hyperthermia Association of the United States (MHAUS), and Leslie G. Biesecker, MD, NIH Distinguished Investigator at the Center for Precision Health Research. The article was recently published in Anesthesiology.
The publication focuses on Malignant Hyperthermia (MH), a rare inherited muscle disorder that can become life-threatening when individuals are exposed to certain anesthesia medications during surgery, including some inhaled anesthetics and the muscle relaxant succinylcholine.
The article outlines current approaches to genetic testing, which typically begin by evaluating three genes associated with MH:
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RYR1 Gene
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CACNA1S Gene
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STAC3 Gene
While genetic testing can identify many individuals at risk, it currently detects approximately 70% of known cases. Because of this limitation, additional testing methods, including contracture testing, may still be needed in some situations.
The study presents a practical, step-by-step framework to help healthcare providers assess risk more effectively by considering a patient’s medical history, family history, symptoms, and genetic testing results.
“This approach is immediately useful for everyday anesthetic practice because it translates a potentially fatal perioperative problem into a practical preoperative decision pathway,” said Dr. Riazi. “As genetic testing becomes more common and contracture testing remains invasive, costly, and available at very few centres, in North America, anesthesiologists need a clear way to interpret malignant hyperthermia risk before exposing patients to volatile anesthetics or succinylcholine. This paper provides that framework.”
The recommendations were also reviewed and endorsed by major anesthesia organizations across the United States and Canada, helping support safer care for individuals at risk for MH.
Read Full Article
The EveryLife Foundation for Rare Diseases is inviting families to apply for travel stipends to attend Rare Family Day 2026 on October 3, 2026 in the San Francisco Bay Area. Hosted by Ultragenyx at its campus, this special event brings together rare disease families from across the country for a day of connection, celebration, and community.
Rare Family Day features family-friendly activities, food, advocate speakers, a Rare Artist display, and opportunities for families to connect with others who understand the rare disease journey. Thanks to the generous support of Ultragenyx, selected families will receive travel stipends covering flights, hotel accommodations, transportation, and meals.
Priority for travel stipends will be given to advocates involved in EveryLife Foundation programs, first-time Rare Family Day attendees, and families with children under 18. Whenever possible, the EveryLife Foundation also aims to support multiple families affected by the same rare disease to help foster connection and support within the community. Families living with ultra-rare or undiagnosed conditions are encouraged to apply as well.
If awarded, each travel stipend includes:
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Economy airfare for up to five immediate family members and/or caregivers
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Hotel accommodations from October 2 – 4 (two nights)
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Transportation to and from the hotel and event venue on October 3
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A VISA gift card to assist with meal expenses
A 2025 attendee shared:
“For families like mine, living with a rare disease can often feel like walking a path few understand. But this day reminded us that we are not alone.”
The travel stipend application is open through June 26, with families notified by the end of July. Families interested in attending independently may contact Stephanie Riordan, Senior Director of Patient Programs, to receive registration information when it opens in August.
We are excited to share that a new Phase 2 clinical trial evaluating Surlorian (ARM210, S48168) for adults with autosomal dominant RYR1-related myopathy (RYR1-RM) is enrolling participants soon. The study is sponsored by RyCarma Therapeutics, Inc., and is taking place at multiple sites across Europe. The study will evaluate whether the investigational treatment may help improve muscle weakness while also assessing safety and tolerability.
Eligible participants must be adults ages 18 – 65 with a confirmed genetic diagnosis of autosomal dominant RYR1-RM who are able to walk 10 meters with or without a cane.
For additional details about the study, eligibility requirements, and participating locations, please visit the study listing on ClinicalTrials.gov.
We look forward to continuing conversations and collaborations with partners around the world as we work together to advance research and clinical care for the RYR-1-RD community.
Join Susan Yoon, Staff Attorney at Triage Cancer, on June 23 at 1 pm ET for an informative webinar, Beyond Medical Care: Finding the Help You Need.
A rare or serious medical diagnosis often brings challenges that extend far beyond medical care alone. During this session, attendees will learn about valuable resources available to help individuals and families navigate the legal, financial, and emotional impacts of a diagnosis.
Topics will include:
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Financial and legal assistance programs
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Mental health services and emotional support resources
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Patient advocacy and navigation services
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Strategies for working with financial planners
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Tips for completing important paperwork needed to access available benefits
By the end of the webinar, attendees will be able to identify key support resources for patients and caregivers and better understand strategies for connecting families with the help they need.
Enrollment remains open for the ongoing Natural History Study of RYR-1-Related Disorders (RYR-1-RD) at the National Institutes of Health. This important research effort is designed to help scientists and clinicians better understand how RYR-1-RD affects individuals over time, from childhood through adulthood.
By studying the progression of the condition, researchers hope to improve patient care, strengthen future clinical trials, and support the development of new treatment options for the RYR-1 community.
The study is led by Tokunbor A. Lawal, PhD, FNP-BC, an independent investigator within the NIH Division of Intramural Research.
Eligibility Requirements
Participants may qualify if they:
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Are 7 years of age or older
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Have a confirmed genetic diagnosis of RYR-1-RD
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Reside in the United States
Individuals with other neuromuscular disorders that also cause muscle weakness are not eligible to participate.
Families and individuals interested in learning more about the study or determining eligibility are encouraged to contact the NIH Office of Patient Recruitment at (800) 411-1222 or by email at ccopr@nih.gov and reference Study #001737-CC.
Every participant contributes valuable information that helps expand scientific knowledge of RYR-1-RD and moves the field closer toward better treatments, improved care, and future breakthroughs for the entire community.
