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Dear Friends, It’s hard to believe that March is already here! This month is shaping up to be a busy one as we aggressively pursue critical funding for RYR-1-RD research through the US Congress, host a webinar on patient perspectives and participation in clinical trial readiness, and approach the final month for young investigators to apply for the 2025 Research Workshop! Before we know it, July will be here, reuniting the RYR-1-RD community at the Family Conference! Make sure you don’t miss this unique opportunity to attend the 2025 Family Conference. This event is truly life-changing for those affected by RYR-1-RD. It provides a platform to connect with others in this rare disease community, learn more about RYR-1-RD, and engage with thought-leaders in the field. Not only does this event change lives for those affected, but it also creates career-defining moments for researchers and clinicians as they meet and interact with those affected by RYR-1-RD. I would also like to extend my heartfelt gratitude to the Norris Family and Kids Who Give for hosting a wonderful fundraiser in support of The RYR-1 Foundation! And as a reminder, don’t forget to register for the free webinar on March 20th: RYR-1-Related Diseases: The Patient Perspective and Patient Participation. As always, feel free to reach out to me with any questions. I’m looking forward to connecting (or reconnecting) with everyone who will be in Pittsburgh this July! Best Wishes, |
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| Lindsay Goldberg, BSN, RN Executive Director, Patient Liaison & Co-Founder The RYR-1 Foundation |
Register for the Family Conference
The Family Conference will be held on July 24 – July 27, 2025 at the Hyatt Regency Pittsburgh International Airport. For more details and to register go to the registration website.
Register For The Family Conference
Apply to be a Panel Leader
The Family Conference Planning Committee invites affected individuals and families affected by an RYR-1-Related Disease (RYR-1-RD) to serve as panel leaders and moderators of some of the Family Conference sessions.
This is a great opportunity for RYR-1-RD affected individuals and families to get more involved in the event. By sharing experiences around similar challenges, panelists and participants can offer valuable solutions, motivate one another, and provide support.
The Family Conference Planning Committee looks forward to participation from more families and individuals affected by RYR-1-RD. To learn more and to apply, view the application.
Learn Why Lauren Volunteers as a Member of the Family Conference Planning Committee
The 2025 Family Conference will be the fourth one Lauren Heft and her family will attend. This time, she is volunteering as a member of the 2025 Family Conference Planning Committee.
“Because The RYR-1 Foundation has done so much to educate and advocate for families like mine. I wanted to contribute my time to ensure this year’s Family Conference is just as successful as the last,” she said.
The Heft family attended the 2016 Family Conference after their son Charlie was diagnosed with an RYR-1-RD. The Family Conference gave the family the opportunity to learn about RYR-1-RD, patient care, and also to connect with other families facing similar challenges.
She is excited about the educational sessions and activities for both first-time and returning attendees as well as more opportunities for patients and families to connect and socialize.
“The Family Conference is the only time we can meet in person with other families living with RYR-1-RD and the doctors and researchers working on our behalf. It’s a weekend that’s absolutely worth it!” she said. “I know I’ll leave the Family Conference with new knowledge, new friendships, and renewed hope for treatments that can help my son and others living with RYR-1-RD.”
8 Reasons to Sponsor the Family Conference
Sponsoring the Family Conference offers a unique and meaningful opportunity to support individuals and families from around the world. It helps bring them together as a community to share experiences, learn from one another as well as experts in RYR-1-RD, and build lasting relationships that extend far beyond the event.
A sponsorship at any amount will have an incredible impact on the individuals and families attending the event. Below are the top reasons to sponsor the Family Conference!
1. Strengthen Social Support for Individuals and Families Affected by an RYR-1-RD
Help relationships flourish over the long-term by providing a supportive community for those affected by an RYR-1-RD and their families.
2. Support Children and Teens Attending the Family Conference
Provide the Kids Club with entertainment and activities, bringing kids together to have fun and provide a lounge for teenagers to use when not attending sessions.
3. Grow Global Brand Visibility
Receive international recognition on The RYR-1 Foundation’s website, in the monthly newsletter, on social media, and during the Family Conference. Other benefits include attending the event in person, and introducing a speaker (benefits vary by level of sponsorship).
4. Directly Engage with the RYR-1-RD Community Including Global Experts, Individuals, and Families
Provide the opportunity to learn more about the issues impacting the RYR-1-RD community, as well as research in the field, and community advocacy. If attending in person, sponsors can attend sessions and learn directly from affected individuals and families, as well as experts and researchers.
5. Showcase Commitment to Corporate Social Responsibility (CSR)
Sponsors demonstrate the commitment to CSR by supporting the event, which strives to improve the lives of those affected by RYR-1-RD and their families.
6. Work with a Flexible Budget and Build A Custom Sponsorship
Organizations can choose a sponsorship that fits their budget and goals.
7. Help Make Special Experiences a Reality
Engaging as a sponsor provides families and individuals with special experiences at the Family Conference, such as entertainment for kids, as part of the Kids Club.
8. Support the Family Conference Which Supports the RYR-1-RD Community
By supporting the Family Conference, sponsors support the community.
To learn more about becoming a sponsor of the Family Conference, view the Family Conference Sponsorship Opportunities.
For more information about Sponsorship Opportunities contact Pat Raffaele.
Family Conference Sponsorship Opportunities
Volunteer for the Family Conference!
Help create a fun, inclusive atmosphere to engage children in Kids Club activities as a volunteer! Volunteers also ensure children are assisted as needed and are properly supervised.
Bring an encouraging and enthusiastic attitude as a volunteer! Learn more about volunteering for the Kids Club or in other roles to help make this Family Conference especially meaningful.
Please reach out to Lena Leghart for more information about volunteering!
Volunteer Details for Kids Club
As the United States Senate (Senate) and the House of Representatives (House) continue to work on their separate budget proposals, now is a crucial time to continue advocating for essential funding for RYR-1-Related Diseases (RYR-1-RD) research conducted through the National Institutes of Health (NIH) and also the Department of Defense via the Congressionally Directed Medical Research Programs (CDMRP).
The RYR-1 Foundation encourages members of the RYR-1-RD community to contact their legislators as soon as possible, as budget discussions are already in progress. Even as votes are taken, there is still time to influence members of the House and Senate as the process will continue through March.
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:
- A template letter for community members to send to House and Senate members representing their state and geographic area
- Links to find specific House members and Senators, searchable by zip code
- A link to the members of the House and Senate Budget Committees
Together, Strength In Numbers, we can sure RYR-1-RD research is funded and prioritized!
For questions or more information contact Patricia Raffaele.
The RYR-1 Foundation is offering an exciting opportunity for young investigators, students, and trainees to apply to attend the 2025 RYR-1-Related Diseases Patient-Led International Research Workshop: Novel Perspectives, Treatments & Interventions (Research Workshop).
The Co-Directors invite undergraduate and graduate students, postdoctoral fellows, medical students, residents, clinical fellows, and early-career researchers to apply for this unique event. To apply, please submit your application by March 31, 2025.
The Co-Directors and The RYR-1 Foundation look forward to welcoming the next generation of researchers to this critical event!
For more information about the Research Workshop contact Lena Leghart.
The RYR-1 Foundation is seeking sponsors for the 2025 Research Workshop. For information about sponsorship opportunities visit Research Workshop Sponsorship Opportunities.
For more information about sponsorship opportunities contact Patricia Raffaele.
A new publication, focusing on research derived from responses to a questionnaire distributed by The RYR-1 Foundation, was published in February 2025. The article, titled Obstetric and gynaecological features in females carrying variants in the skeletal muscle ryanodine receptor type 1 (RYR1) gene: a questionnaire study, appeared in Neuromuscular Disorders.
Members of The RYR-1 Foundation that are part of this publication:
Michael F. Goldberg, MD, MPH, Board President & Co-Chair of Research, The RYR-1 Foundation
Heinz Jungbluth, MD, PhD, Professor of Pediatric Neurology at King’s College, London; Scientific Advisory Board Member
Susan Treves, PhD, Research Group Leader, Department of Biomedicine, University of Basel, Switzerland; Scientific Advisory Board Member
Nicol C. Voermans, MD, PhD, Professor of Muscular Diseases, Radboud University, Netherlands; Scientific Advisory Board Member
Lead author Arti Mistry, PhD is a postdoctoral research associate and teaching fellow in the Department of Women and Children’s Health at the School of Life Course & Population Sciences at King’s College London. She completed her PhD in 2023 under the guidance of Professor Heinz Jungbluth, MD, PhD, at King’s College London.
Dr. Mistry noted that highlights from the study include the following:
- RYR1 variant carrying females exhibit a bleeding disorder
- RYR1 variants could be a contributing factor to unexplained menorrhagia (heavy menstrual bleeding)
- RYR1 variant carrying females may have complications during pregnancy or delivery
- RYR1 patients are more likely to experience bowel and bladder symptoms
Dr. Mistry explained, “These findings emphasize the need for greater awareness of such symptoms in the health surveillance of females with a RYR1-related disorder and their gynaecological and obstetric care.”
For more information contact Mike Goldberg.
Read Full Article Here
Join The RYR-1 Foundation and lead researcher Lizan Stinissen, a PhD candidate under Professor of Neurology at Radboud University Medical Centre, Nicol Voermans, MD, PhD, on March 19, 2025, at 2 p.m. EST, for an informative session on a clinical trial readiness survey for the RYR-1-Related Diseases (RYR-1-RD) community. The following topics will be discussed:
- Participant experiences in clinical trials in neuromuscular diseases
- Importance of patient participation in clinical research in neuromuscular diseases
- Insights from the 2022 RYR-1-RD community survey conducted during the 2022 Research Workshop
- Discussion of the current survey on RYR-1-RD clinical trial readiness
- The survey will be available as of next week, for approximately six weeks. More information will be sent next week once the survey is open.
For more information contact Lena Leghart.
Join Robert Dirksen, PhD, Chair of The RYR-1 Foundation’s Scientific Advisory Board, and Mike Goldberg, MD, MPH, President of the Board of Directors and Co-Chair of Research, for a special webinar, Insights from Mouse Models: What We’ve Learned About RYR-1 Myopathy, at 6 p.m. EST on April 8, 2025.
Dr. Goldberg will moderate the discussion, which focuses on the results of a new study which examines how mice with RYR-1-Related Diseases (RYR-1-RD), specifically muscle weakness and other related complications, attempt to adapt their muscles in response to changes in the RyR1 protein. The RYR-1-RD mouse model, which carries variants (mutations) in the RYR1 gene, was developed as part of research funded by The RYR-1 Foundation.
Dr. Dirksen co-wrote the paper Compound heterozygous RYR1-RM mouse model reveals disease pathomechanisms and muscle adaptations to promote postnatal survival, which was published in the journal FASEB (Federation of American Societies for Experimental Biology).
“The results of this work have important implications for RYR-1-related myopathies,” noted Dr. Dirksen. “The understanding of how specific muscle adaptations in a subset of mice promote survival and limit muscle weakness can help scientists develop treatments for people with RYR-1-RD. Such critical research would not be possible without the support of The RYR-1 Foundation.”
Dr. Dirksen serves as the Lewis Pratt Ross professor and chair of Pharmacology and Physiology at the University of Rochester Medical Center.
For more information contact Lena Leghart.
Kids Who Give is a nonprofit organization with the mission to inspire kids to give and make the world a better place. Lyla Grace, one of the “Kids Who Give,” is affected by an RYR-1-Related Disease. Families can nominate organizations to receive donations through a “giving party” held by members of Kids Who Give.
Lyla Grace nominated The RYR-1 Foundation, and the Kids Leadership Board accepted the nomination to support the organization through a “giving party.” Lyla Grace and Kids Who Give raised $2,450 in support of The RYR-1 Foundation.
“We are deeply grateful to Lyla Grace and Kids Who Give for their generous donation,” said Executive Director of The RYR-1 Foundation, Lindsay Goldberg, BSN, RN. “This contribution is particularly meaningful as our mission is to support families and individuals affected by RYR-1-related diseases.”
“With their boundless kindness and generosity, Kids Who Give donated to The RYR-1 Foundation and demonstrated that even the smallest hands can make a big impact. Their gifts inspire hope and pave the way for a brighter, more promising future,” said Lyla Grace’s mother, Megan Norris.
Learn more about Lyla Grace and Kids Who Give on their Our Charities page.
Learn more about Kids Who Give
