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Dear Friends, As the saying goes, “April showers bring May flowers”—let the May flowers bloom! We’re feeling the energy of the season as we finalize details for two cornerstone events: the Research Workshop and the Family Conference, both taking place in July 2025. It’s hard to contain our excitement as we prepare to bring the RYR-1-Related Diseases (RYR-1-RD) community together once again! We are excited to share the Preliminary Agenda for the 2025 Family Conference! This year’s agenda offers something for everyone—from expert panels to patient-led sessions to outstanding sessions designed for teens and kids. To celebrate Memorial Day weekend, we’re also offering a special limited-time discount. Don’t miss this final opportunity to save on registration! We’re also thrilled to bring back our Kids’ Club this year, and we need your help! We are currently looking for additional Kids’ Club volunteers. Teens and young adults are especially encouraged to get involved—it’s a great opportunity to make a meaningful difference, connect with others, and join in the fun! Take action with us—your advocacy can make a real change! Our congressional advocacy efforts continue, with a current focus on protecting Medicaid funding, which is essential to the rare disease community—including those living with RYR-1-RD. Your voice is needed more than ever, as a final budget bill is expected to go before Congress by the end of May. We’ll be closely watching its progress. In case you missed the live webinar, the recording of Dr. Dirksen’s Insights from Mouse Models: What We’ve Learned About RYR-1 Myopathy, featuring Dr. Mike Goldberg, is now available on our website, YouTube channel, and Vimeo account. A new publication titled Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age was just released—with particularly interesting findings for the RYR-1-RD community. Check out the highlights from this important study! I want to conclude by expressing our deep appreciation to the generous sponsors supporting both the Research Workshop and Family Conference. Their contributions are helping us create impactful, inclusive, and engaging events. If you’d like to join this amazing group of sponsors in supporting these initiatives, we welcome your involvement! July is right around the corner, and we can’t wait to see many of you at the Family Conference! Best Wishes, |
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| Lindsay Goldberg, BSN, RN Executive Director, Patient Liaison & Co-Founder The RYR-1 Foundation |
Explore The Preliminary Agenda
Explore the preliminary agenda and get ready to join friends and families at the 2025 Family Conference!
The Family Conference offers something for everyone—including expert lectures, interactive sessions, one-on-one consultations, patient-led panels, and unique programming for kids and teens through the Kids’ Club and the Teen Lounge.
Family Conference Highlights—Lectures & Panels Covering Key Topics Including:
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Overview of RYR-1-Related Diseases
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Advances in Gene and Cell Therapies
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Expert Panels: Sequela of RYR-1-RD, Current Treatment Options, Therapeutic Pipeline & The RYR-1 Foundation’s Research Grants, Practically of Future Treatments & a Cure
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Practical Topics: School Accommodations, Genetics, Family Planning, Financial Planning, and more
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Patient-Led Panels: Real-World Insights on Exercise, Malignant Hyperthermia Phenotype, and Additional Lived Experiences
In celebration of Memorial Day weekend, we’re offering our final discount—5% off per person! This special offer will be available from May 23 – 26, so don’t miss your last chance to save on registration!
Registration for the Family Conference closes on June 30, 2025!
For more information and to secure your spot, please visit our registration website.
We can’t wait to see you in Pittsburgh in July!
Contact Lena Leghart for more information.
Register For The Family Conference
Family Conference Preliminary Agenda
Meet Bob Hanich
After attending the 2022 Family Conference, Robert Hanich, MD, FACC, was inspired to join the Planning Committee for this year’s Family Conference, noting that he “wanted 2025’s Family Conference to be even more memorable and compelling.” Bob serves as a member of The RYR-1 Foundation’s Board of Directors and is a retired electrophysiologist and interventional cardiologist.
Bob is also affected by an RYR-1-Related Disease (RYR-1-RD). “The 2022 Family Conference offered my first connection with the RYR-1-RD community after years of struggling alone for a diagnosis and care,” he said. “There is something to be said for strength in numbers. Discovering the science of RYR-1-RD, and interacting one-on-one with high caliber international researchers gave me great insight and hope.”
Throughout the past year, Bob and other volunteers reviewed evaluations from prior Family Conferences and discussed options for future lectures and effective speakers, with an emphasis on patient-focused topics and the intent of involving the entire age range of those diagnosed with an RYR-1-RD.
“Our intent is to provide personally useful and intriguing clinical information in a setting of fellowship and shared wisdom of living with an RYR-1-RD,” Bob said. “I look forward to this July and connecting with, and learning from our remarkable, ever-expanding community and dedicated advocates.”
Kids’ Club Fun: Looking For Volunteers!
Kids have a lot to look forward to at the 2025 Family Conference! Held throughout the Family Conference, the Kids’ Club offers a full slate of activities, while allowing them to reconnect and meet others in a fun atmosphere.
A magic show, balloon art, and airbrush tattoos provided by Weird Eric & the Party Animals are just a few of the exciting activities happening. Kids can also enjoy games, art activities, movie night, and a sundae bar.
Teens and young adults can join in the fun by volunteering to help engage children in the Kids’ Club activities! Volunteers will also ensure that children receive assistance as needed and are properly supervised.
Learn more about volunteering for the Kids’ Club and in other roles to help make this Family Conference especially memorable.
The deadline to sign up as a volunteer for the Kids’ Club is May 17, 2025!
Contact Lena Leghart for any questions related to the Family Conference.
Volunteer Details For The Kids’ Club
Sponsor the Family Conference: Creating Lasting Memories
Join Eagle Pharmaceuticals, D.F. Dent, and G3 Fabrication in making an incredible difference as sponsors of The RYR-1 Foundation Family Conference 2025!
Whether it’s exciting activities for the Kids’ Club, a snack break for attendees, or an offsite activity/event, sponsors play a key role in making these unforgettable moments possible for everyone involved.
While making an impact on the Family Conference, sponsors also demonstrate corporate social responsibility, and receive benefits including global recognition, opportunities to attend the Family Conference in person, social media recognition, and other benefits (benefits vary by level).
To learn more about becoming a sponsor of the Family Conference, view the Family Conference Sponsorship Opportunities.
For more information about Family Conference Sponsorship Opportunities, contact Pat Raffaele.
Family Conference Sponsorship Opportunities
Sponsor the Research Workshop: Connect with Experts and Patients
Join Eagle Pharmaceuticals as a sponsor of the 2025 RYR-1-Related Diseases Patient-Led International Research Workshop: Novel Perspectives, Treatments & Interventions and at the same time gain global recognition while supporting this in-person event.
Sponsoring the Research Workshop positions your organization as a key partner in the field of RYR-1-Related Diseases (RYR-1-RD). If attending in person, sponsors have the unique opportunity to engage with experts, patients, and families.
Sponsors directly enable world-renowned researchers, healthcare providers, and scientists to collaborate face-to-face on the latest advances in RYR-1-RD—while also engaging with patients and families—at the only workshop dedicated exclusively to this disease. It’s also a powerful demonstration of corporate social responsibility and a meaningful investment in the search for treatments and a cure.
To learn more about sponsoring the Research Workshop, view the Research Workshop Sponsorship Opportunities.
For further information, contact Pat Raffaele.
Research Workshop Sponsorship Opportunities
Now is the time to contact legislators to let them know the personal impact of potential budget cuts to Medical Assistance (Medicaid). Timing is critical because large cuts to Medicaid are included in the proposed federal budget, and negotiations on the final bill are currently underway. A final version of the bill is expected to be presented to the United States Congress by the end of May.
Both the House of Representatives and Senate approved a budget bill that includes significant Medicaid cuts. However, the bill does not yet specify the amount of the cuts or specific Medicaid programs that will be impacted. This makes advocacy more important than ever!
In addition to protecting Medicaid, it’s equally essential to continue advocating for funding for RYR-1-Related Diseases (RYR-1-RD) research conducted through the National Institutes of Health (NIH) and the Congressionally Directed Medical Research Programs (CDMRP) under the Department of Defense.
Advocacy from the RYR-1-RD community can make a real difference. Contact legislators today to urge them to:
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Oppose harmful Medicaid cuts that affect individuals and families with rare diseases
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Prioritize federal investment in RYR-1-RD research
The RYR-1 Foundation has created resources to help members of the RYR-1-RD community advocate effectively. Visit the organization’s advocacy web page for:
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A template letter for community members to send to House and Senate members representing their state and geographic area
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Links to find specific House members and Senators, searchable by zip code
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A link to the members of the House and Senate Budget Committees
Together, with Strength In Numbers, let’s make sure the needs of the RYR-1-RD community are heard during this crucial time!
For questions or more information contact Pat Raffaele.
Last month’s webinar, Insights from Mouse Models: What We’ve Learned About RYR-1 Myopathy is now available on The RYR-1 Foundation website, YouTube channel, and Vimeo account. The webinar focuses on results of a new study on a mouse model with implications for RYR-1-related myopathies. Robert Dirksen, PhD, co-author of the study, presented the research findings during the program, which was moderated by Michael Goldberg, MD, MPH.
Dr. Goldberg is president of the Board of Directors of The RYR-1 Foundation and is co-chair of Research for the organization. Dr. Dirksen is chair of The RYR-1 Foundation’s Scientific Advisory Board and is the Lewis Pratt Ross professor and chair of Pharmacology and Physiology at the University of Rochester Medical Center.
Watch The Webinar Recording
A recently published natural history study, Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age studied 142 adults with congenital myopathies to better understand how the disease changes with age and how to care for these patients when they get older. Congenital myopathies cause muscle weakness and are rare muscle disorders that people are usually born with or develop in early childhood.
This study, recently published in the European Journal of Neurology, found that most patients, more than 80%, had symptoms before adulthood and approximately 15% first showed signs of the disease as adults. The study also found that the most common cause was a variant (mutation) of the RYR1 gene, followed by the DNM2 gene. Other findings included:
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Most adults had mild muscle weakness, and approximately 15% needed to use a wheelchair.
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Patients with a mutation in the SELENON gene had the most serious breathing problems.
The RYR1 gene accounted for 45% of the patients in this study—a remarkable finding. This highlights the possibility that RYR-1-Related Diseases (RYR-1-RD) may be more common than previously believed. It also underscores the critical ongoing need for a dedicated Prevalence and Natural History Study focused on RYR-1-RD.
“This study is an important contribution to the medical literature, as it provides further evidence of the relatively high prevalence of RYR-1-RD,” said Dr. Michael Goldberg, president of the Board of Directors of The RYR-1 Foundation and co-chair of Research. “Given these findings, it strengthens our feeling that RYR-1-RD is worthy of interest and support from researchers, the biotech/pharma industry, sponsors of research, and regulatory agencies.”
The study is also important because it demonstrates that some patients do not develop symptoms until adulthood, which means that physicians should consider congenital myopathies even in adults. The study also gives healthcare providers insight into what to expect as patients age, so they can plan patient care related to breathing and mobility.
