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Dear Friends, We are quickly approaching July and our highly anticipated Family Conference! We strongly encourage all affected individuals and their families to attend the 2025 Family Conference. The agenda, to be released soon, is filled with informative sessions, one-on-one consultation opportunities, physical therapy, chair yoga, and patient-led panels. We’re excited about this year’s event, which promises to be even better than before, with plenty of exciting enhancements! Don’t forget—tomorrow, April 8th, we are hosting the webinar Insights from Mouse Models: What We’ve Learned About RYR-1 Myopathy, with Dr. Mike Goldberg, board president and co-chair of Research (and my treasured husband), moderating. Dr. Bob Dirksen will be discussing his latest published article on RYR1 mice. Be sure to register—more details are below! We encourage you to participate in the RYR-1-RD Patient Survey focused on clinical trial readiness. This is a valuable opportunity for the RYR-1-RD community to share insights on future clinical trials, which will help facilitate clinical research and support pharmaceutical companies. In addition, we continue our congressional advocacy efforts, recently focusing on the protection of Medicaid funding, which is crucial for the rare disease community, including those affected by RYR-1-RD. We are also proud to announce the publication on a research grant titled PRIME editing correction of the T4709M mutation responsible for some cases of Ryanodine receptor type 1 (RYR1) related myopathies (RYR1 RM), led by Dr. Jacques Tremblay, at Université Laval in Québec, Canada. We are thrilled to have supported this grant and its successes. Additionally, congratulations to Dr. Hichem Tasfaout who recently received The Jaconette L. Tietze Young Scientist Award at the University of Washington. Dr. Tasfaout was recently awarded a grant from The RYR-1 Foundation to work on split intein technology. There’s an incredible opportunity for those with a rare disease, including RYR-1-RD, to apply for a scholarship for undergraduate, graduate, or vocational-technical/trade school for the Fall 2025 semester. I’d also like to thank D.F. Dent and Eagle Pharmaceuticals for their generous sponsorships of the 2025 Family Conference and 2025 Research Workshop. These events would not be possible without the support of our sponsors. Happy Spring! I can’t wait to reconnect and meet new members of the RYR-1-RD community in 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
To celebrate Spring, we’re offering a 10% discount per person for registrations made between April 13 – 19, 2025! Don’t wait—secure your spot now and take advantage of this limited-time offer.
Get ready for the 2025 Family Conference—a chance to be inspired, connect with others, learn from experts, and have fun! We’ll be releasing a preliminary agenda soon, so stay tuned for exciting details.
The Family Conference will be held from July 24 – 27, 2025, at the Hyatt Regency Pittsburgh International Airport. Visit our registration website for more details and to sign up. We can’t wait to see you there!
Register For The Family Conference
Meet Brentney Simon
“It’s better to give than to receive is a motto I live by,” said Brentney Simon, a self-described advocate of the Family Conference and member of the 2025 Family Conference Planning Committee. “I couldn’t pass up the opportunity to volunteer and assist in planning this year’s Family Conference! It’s a rewarding experience.” She has attended all of the Family Conferences to date and serves as a member of the organization’s Board of Advisors.
After more than 20 years of searching, she received a diagnosis in 2016 and recalls being anxious and uncertain. However, after connecting with The RYR-1 Foundation, experts, and others in similar situations, she underwent a life-changing operation for chronic issues that her local doctors had been unable to diagnose.
“This organization changes lives,” she said. “It’s the reunion of our community at the Family Conference that I look forward to the most, and I’m looking forward to providing comfort to those who are currently where I was just a few years ago.”
She added that the Planning Committee has added an extra day, allowing for a shorter daily schedule without sacrificing the number of valuable speakers.
“The guest speakers have been carefully selected based on feedback from past attendees, ensuring they address the key concerns expressed by the community. These sessions offer essential information for everyone and are not to be missed!” she said, adding, “Have you registered yet? I hope to see you there!”
Apply to be a Panel Leader
Motivate others, provide support, and share experiences as a panel leader or moderator of a session at the Family Conference! Potential panelists and moderators have until April 30, 2025 to complete an application! Interested individuals can nominate themselves or someone else by completing a brief online application. Nominees are asked to describe the characteristics of their condition and share the topics they are interested in discussing as a panel moderator.
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 by April 30, 2025, view the application.
Volunteer for the Family Conference
Help create a fun, inclusive atmosphere to engage children in the Kids’ Club activities as a volunteer! Volunteers also assure children are assisted 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 meaningful.
Contact Lena Leghart for any questions related to the Family Conference.
Volunteer Details For The Kids’ Club
Help Make Special Experiences A Reality
Sponsor the Family Conference and help bring memorable experiences to life and support family and patient engagement and education.
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 special moments possible for everyone involved.
A sponsorship of any amount will have an incredible impact on the individuals and families attending the event.
To learn more about becoming a sponsor of the Family Conference, view the Family Conference Sponsorship Opportunities.
For additional information about Family Conference Sponsorship Opportunities, contact Pat Raffaele.
Family Conference Sponsorship Opportunities
The RYR-1 Foundation is excited to welcome D.F. Dent & Co., Inc., and Eagle Pharmaceuticals, Inc. as 2025 Family Conference and 2025 Research Workshop sponsors.
D.F. Dent & Co., Inc., an investment firm located in Baltimore, Maryland, is a Bronze Sponsor of the Family Conference. Eagle Pharmaceuticals, Inc., a specialty pharmaceutical company, headquartered in Woodcliff Lake, New Jersey, is a Silver Sponsor of the Family Conference and a Platinum Sponsor of the Research Workshop.
“We deeply appreciate the continued generosity of D.F. Dent and Eagle Pharmaceuticals as sponsors. Not only are they supporting this year’s events, but they also sponsored prior events.” said the organization’s Executive Director, Patient Liaison & Co-Founder, Lindsay Goldberg, BSN, RN.
Eagle Pharmaceuticals is proud to be a Platinum Sponsor of the 2025 RYR-1-Related Diseases Patient-Led International Research Workshop: Novel Perspectives, Treatments & Interventions (Research Workshop). We invite you to join Eagle Pharmaceuticals as a sponsor of this important event, which builds global awareness, engages the RYR-1-RD community, and demonstrates support for collaboration among the world’s leading experts in RYR-1-Related Diseases (RYR-1-RD).
Sponsors of the Research Workshop are recognized as key partners in the field of RYR-1-RD. If attending in person, sponsors will have the opportunity to connect with both experts and patients (sponsorship benefits vary by level).
Supporting the Research Workshop is a powerful way to demonstrate a commitment to corporate social responsibility while contributing to efforts to find treatments and a cure for RYR-1-RD.
Become a sponsor of the Research Workshop to gain global recognition and support this important in-person event, which focuses on the latest research in the field of RYR-1-RD.
To learn more about sponsoring the Research Workshop, view Research Workshop Sponsorship Opportunities. For further information, contact Pat Raffaele.
Research Workshop Sponsorship Opportunities
Join a special webinar tomorrow, Tuesday, April 8th at 6 pm (ET), to learn about the results of a new study on a mouse model with implications for RYR-1 related myopathies. Chair of The RYR-1 Foundation’s Scientific Advisory Board and co-author of the study, Robert Dirksen, PhD, will present the research findings. President of the Board of Directors and Co-Chair of Research for the organization, Mike Goldberg, MD, MPH, will moderate the session.
“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.”
The study examines muscle adaptations in mice with RYR-1-RD, focusing on how these changes help combat muscle weakness. The paper Compound heterozygous RYR1-RM mouse model reveals disease pathomechanisms and muscle adaptations to promote postnatal survival was published in the journal FASEB (Federation of American Societies for Experimental Biology). Dr. Dirksen is also the Lewis Pratt Ross professor and chair of Pharmacology and Physiology at the University of Rochester Medical Center.
To register, go to the registration website.
For more information contact Lena Leghart.
Register Here
Individuals with an RYR-1-Related Disease are invited to participate in a survey focused on the Patient Perspective. The survey is led by researcher, Lizan Stinissen, a PhD candidate under Professor of Neurology at Radboud University Medical Center, Nicol Voermans, MD, PhD. The survey will close on April 20, 2025, so be sure to indicate your interest in participating as soon as possible.
During the webinar, Ms. Stinissen and Professor Voermans shared information about past clinical trial readiness surveys on the patient perspective, the findings of those surveys, and the survey that is now underway. Brentney Simon, an affected individual and member of The RYR-1 Foundation’s Board of Advisors, shared her experiences as a participant in patient surveys.
Executive Director, Patient Liaison, & Co-Founder, Lindsay Goldberg, BSN, RN, served as moderator of the program. Together with SORRYR-1 and ZNM – Zusammen Stark! e.V., we encourage individuals in the RYR-1-RD community to participate in the survey.
If you missed or want to rewatch the RYR-1-Related Diseases: The Patient Perspective and Patient Participation Webinar, view the slides and participate in the survey by clicking the buttons below.
For more information and to participate contact Lizan Stinissen.
Advocacy is more crucial than ever as the United States Congress (House and Senate) considers cuts to funding for Medical Assistance (Medicaid), which helps millions of individuals with rare diseases pay for and access healthcare. Although Congress passed a short-term spending bill last month, there is still a risk that upcoming legislation could include cuts to Medicaid.
At the same time, it is essential to continue advocating for 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 immediately to advocate against cuts to Medicaid funding and to continue advocating for increased support for 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
In addition, the National Organization of Rare Disorders (NORD) is pressing individuals with rare diseases to urge their legislators to oppose any cuts to Medicaid funding. To learn more about NORD’s Medicaid advocacy, visit their Take Action page. NORD also invites individuals to share their personal stories about the potential impact of Medicaid funding cuts. These stories may be shared as part of NORD’s advocacy campaign. To submit a personal story, email stories@rarediseases.org.
Together, Strength In Numbers, we can ensure RYR-1-RD research is funded and prioritized!
For questions or more information contact Pat Raffaele.
A recently published paper establishes a foundation for a new therapeutic approach for RYR1-Related Myopathies, which focuses on a prime editing technique using a gene editing tool to introduce a protective mutation into muscle cells to help prevent calcium leaks. Jacques Tremblay, PhD, professor of the Department of Molecular Medicine at the Université Laval, Québec, Canada conducted the research, which was funded by The RYR-1 Foundation.
This research led to the publication of Universal Prime Editing Therapeutic Strategy for RyR1-Related Myopathies: A Protective Mutation Rescues Leaky RyR1 Channel on March 21, 2025, in the International Journal of Molecular Sciences.
Andrew Marks, MD, a member of The RYR-1 Foundation’s Scientific Advisory Board, also contributed to the article, along with several co-authors. Dr. Marks is professor and chair of the Department of Physiology and Cellular Biophysics, professor of Biomedical Engineering, and Clyde and Helen Wu professor of Medicine at Columbia University.
The scientists studied a specific mutation in the RYR1 gene, called the S2843A mutation, and found that when it’s combined with other harmful mutations, it helps reduce calcium leakage in muscle cells. In lab experiments, they used a gene-editing tool called prime editing to deliver the components into human muscle cells, successfully introducing the mutation in 31% of the cells.
“This is exciting, foundational research, and the results are promising. I am proud that funding from The RYR-1 Foundation helped advance this important work,” said The RYR-1 Foundation’s Board Chair and Co-Chair of Research, Mike Goldberg, MD, MPH. “The potential to use prime editing, as demonstrated in Professor Tremblay’s research, offers the possibility of a universal solution for RYR-1-RD patients, regardless of their specific mutation.”
For more information contact Mike Goldberg.
Hichem Tasfaout, PharmD, PhD, MS, recently received The Jaconette L. Tietze Young Scientist Award from the John H. Tietze Foundation Trust. The award was announced by the Institute for Stem Cell & Regenerative Medicine at the University of Washington, Seattle. Dr. Tasfaout serves as the acting assistant Professor of Neurology at the University of Washington.
The Jaconette L. Tietze Young Scientist Award provides $25,000 for one year of support. Preference is given to junior faculty (including acting instructor level) at the University of Washington who have not yet received major external funding (such as an R01). The research should involve or be relevant to some aspect of stem or progenitor cell biology or therapies.
Dr. Tasfaout will explore how AAV vectors could potentially deliver functional copies of the RYR1 gene to affected muscles if they can be packaged into the small vector.
Funding from the Tietze Award will allow Dr. Tasfaout’s investigation of a new gene delivery method using SIMPLI-GT, developed in the Chamberlain Lab. This technology delivers RyR1 protein fragments to muscle cells and fuses them into a functional protein with split inteins. The goal is to express the missing RyR1 protein, potentially benefiting all patients with RYR-1-related diseases.
Dr. Tasfaout is also a recipient of a recent research grant awarded by The RYR-1 Foundation titled Expression of full-length RYR1 using split inteins and myotropic AAVs.
“I am deeply honored to receive this award from the Tietze Foundation. This grant recognizes the significance of advancing gene therapy for RYR-1-related diseases. We plan to use these funds in conjunction with The RYR-1 Foundation Award to test our innovative split intein technology and myotropic AAVs, aiming to demonstrate the feasibility of RYR1 expression in a proof-of-concept study,” said Dr. Tasfaout.
The EveryLife Foundation for Rare Diseases invites individuals who are 17 years or older to apply for a scholarship through its #RAREis Scholarship Fund. This is the sixth year The EveryLife Foundation is offering scholarships through the #RAREis Scholarship Fund and will award 104 $5,000 scholarships provided for Fall 2025.
The scholarship fund, supported by Amgen, was established in 2020 to help adults with rare diseases to pursue their dreams through education. Since then, 387 scholarships have been awarded.
The #RAREis Scholarship Fund application opened on March 17, 2025, and will be open
through 2 pm (ET), April 28, 2025, at RareScholarship.org.
The #RAREis Scholarship Fund is available to applicants who are:
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Ages 17 or older.
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Residents of the United States.
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Diagnosed by a physician as having any form of rare disease regardless of treatment status. Undiagnosed patients are also encouraged to apply.
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Must be planning to enroll full-time or part-time in undergraduate or graduate study at an accredited two- or four-year college, university, or vocational-technical/trade school for the Fall 2025 semester. There is no minimum amount of credit hours to be part-time.
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Scholarship awards are not renewable, but students may reapply to the program each year they meet eligibility requirements. The lifetime limit to receive the scholarship is 4 times.
For more information and to apply visit RareScholarship.org.
#RAREis Scholarship Fund Application
