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Dear Friends, Summer has arrived—and it certainly snuck up on us this year! This season is especially exciting for The RYR-1 Foundation as we prepare to host two major events: the Research Workshop and the Family Conference. These are cornerstone programs for the entire RYR-1-Related Diseases (RYR-1-RD) community, bringing together affected individuals, families, healthcare professionals, and researchers. The opportunity to connect in person with the full RYR-1-RD community is rare—and truly life-changing. We hope you’ll be able to join us at the 2025 Family Conference! Registration closes June 30th, so be sure to register soon and secure your spot. This year’s Family Conference is especially meaningful as it’s the first to be shaped by our Family Conference Planning Committee, a dedicated group of community members whose insights have helped make this the most thoughtful Family Conference yet. I want to extend my heartfelt thanks to each of them for their time, energy, and commitment. This is the final Newsletter featuring a Planning Committee member – don’t miss it! I’m also deeply grateful to our generous sponsors—without whom these events wouldn’t be possible. I’m excited to welcome two new supporters: RyCarma Therapeutics and Strassburger, McKenna, Gutnick & Gefsky. Thank you both for your partnership! If you, your company, your organization, or your employer are interested in supporting either of these landmark events, please don’t hesitate to reach out. We welcome and appreciate all forms of support. Lastly, the NIH has opened enrollment for a Natural History Study focused on RYR-1-RD. Participation in this study is a powerful way for individuals and families to contribute to research, helping to advance therapies and, ultimately, a cure. I strongly encourage eligible participants to consider enrolling. We can’t wait to see many of you in July. Until then, thank you for being part of this incredible community. Best Wishes, |
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| Lindsay Goldberg, BSN, RN Executive Director, Patient Liaison & Co-Founder The RYR-1 Foundation |
Registration closes on June 30, 2025
Don’t miss the opportunity to reconnect with friends and make new friends at The RYR-1 Foundation International Family Conference 2025! Registration closes on June 30, 2025.
The Family Conference offers a full agenda—including education through expert lectures, the opportunity to participate through interactive sessions, one-on-one consultations with experts, and patient-led panels.
In addition, kids and teenagers can participate in unique programming through the Kids’ Club and the Teen Lounge.
For details see the full Family Conference Agenda.
For more information and to secure your spot, please visit the registration website.
Register For The Family Conference
Meet Sofia Leon
Sofia Leon, a member of the Planning Committee for the 2025 Family Conference, volunteers because she wants people coming to “feel that it is worth attending.”
A member of the organization’s Board of Advisors, she has a large family in Mexico City, with more than 25 family members affected by Central Core Disease (CCD) caused by a RYR1 variant (mutation). Several years ago she moved from Mexico City to Austin, Texas, with her two children, one of whom is affected by a RYR-1-RD.
When she moved to Austin, she began working with Susan Hamilton, PhD, professor and chair of the Department of Integrative Medicine at Baylor School of Medicine. She brought her entire family to the Hamilton Laboratory several years in a row, where multiple family members shared blood samples. This allowed researchers to identify the gene variant responsible for the family’s CCD, inspired many trainees, and continues to drive research in the Hamilton Laboratory.
“I keep coming back to the Family Conference because I want to keep informed on the results of the research and because I want researchers to know what we are expecting of them,” she said.
She also notes that each Family Conference is different, saying, “there’s more information to share, more people affected, and more progress in the research.”
Contact Lena Leghart for any questions related to the Family Conference.
The RYR-1 Foundation welcomes new sponsors for the Family Conference and the Research Workshop!
The new sponsors of the Family Conference are RyCarma Therapeutics (formerly ARMGO Pharma) and the Pittsburgh-based law firm Strassburger, McKenna, Gutnick & Gefsky. They join Eagle Pharmaceuticals, D.F. Dent, and G3 Fabrication as sponsors of the Family Conference.
We’re pleased to share that RyCarma Therapeutics is a new sponsor of the Research Workshop. They join Eagle Pharmaceuticals in supporting this important event.
“We are beyond grateful for the support from our sponsors,” said Executive Director, Patient Liaison, & Co-Founder of The RYR-1 Foundation, Lindsay Goldberg, RN, BSN. “Sponsors give families and individuals the priceless opportunity to meet in person, learn the latest research, and build personal connections.”
To learn more about Strassburger, McKenna, Gutnick & Gefsky visit their website.
To learn more about RyCarma Therapeutics visit their website.
Join Eagle Pharmaceuticals, D.F. Dent, G3 Fabrication, RyCarma Therapeutics and Strassburger, Mckenna, Gutnick & Gefsky, in making an incredible difference as sponsors of The RYR-1 Foundation International Family Conference 2025!
Sponsors provide the ability for families and individuals to not only participate in a full agenda of events, but also to build meaningful connections and join a global community of support.
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
There is still time to sponsor the 2025 RYR-1-Related Diseases Patient-Led International Research Workshop: Novel Perspectives, Treatments & Interventions. The Research Workshop is the only one in the world focused on the latest research in the field of RYR-1-Related Diseases (RYR-1 RD).
“Sponsors provide researchers from around the world with the opportunity to come together in person to share research, create collaborations, and explore the impact of research with patients and families. We simply could not host this Research Workshop and offer these special experiences without our sponsors,” said The RYR-1 Foundation’s Executive Director, Patient Liaison & Co-Founder, Lindsay Goldberg, RN, BSN.
Supporting the Research Workshop is also 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.
Join Eagle Pharmaceuticals and RyCarma Therapeutics in sponsoring the Research Workshop!
To learn more about sponsoring the Research Workshop, view Research Workshop Sponsorship Opportunities.
For further information contact Pat Raffaele.
Research Workshop Sponsorship Opportunities
Registration is now open for a Natural History Study on RYR-1-Related Disorders (RYR-1-RD) being conducted at the National Institutes of Health (NIH).
Led by Dr. Tokunbor A. Lawal, PhD, FNP-BC, an independent research scholar in the Division of Intramural Research, this study aims to better understand the clinical features and progression of RYR-1-RD in both children and adults.
The details are below:
Who Can Participate?
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Individuals 7 years or older
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Confirmed genetic diagnosis of RYR-1-RD
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Resides in the United States
Who Is Not Eligible?
- Individuals with other neuromuscular diseases causing muscle weakness
Interested in Participating?
To learn more or to enroll, contact the NIH Office of Patient Recruitment: call (800) 411-1222 or email ccopr@nih.gov. Please refer to Research Study #001737-CC.
Participation in the study could help advance research and future treatments for RYR-1-RD!
Michael Goldberg, MD, MPH, will be leading the Therapeutic Pipeline session at the upcoming 2025 RYR-1-Related Diseases Patient-Led International Research Workshop: Novel Perspectives, Treatments & Interventions, taking place July 23–24.
As part of his introduction, Dr. Goldberg wants to help researchers better understand the real-world impact of RYR-1-RD—beyond the science. That means your voice, your story, and your experience truly matter.
We’re inviting individuals and families affected by RYR-1-RD to be featured in Dr. Goldberg’s introduction to his session, Faces of RYR-1-RD. This is a powerful way to show the scientific community who they’re working for—and why their work is so important.
How You Can Participate:
- Upload photos or videos of yourself or your loved ones living with RYR-1-RD
- Share a short quote about how RYR-1-RD affects your daily life—and what a cure would mean to you
Please use the Faces of RYR-1-RD Form to submit your materials.
Your story could help inspire the next breakthrough. Thank you for being a vital part of this journey—we’re so grateful for your voice and your courage.
