July 2025 Newsletter

July 5, 2025

Dear Friends,

The past six months have flown by, and I can hardly believe that in just two-and-a-half weeks, the RYR-1-RD community will be reuniting in Pittsburgh for the Research Workshop and Family Conference!

This year’s Family Conference is our most expansive yet—with an additional full day, more opportunities to connect, a broader range of session topics, and newly featured patient-led panels. I truly can’t contain my excitement, and I hope you’ll be joining us!

The Research Workshop will spotlight exciting advancements across key areas, including: genetics and diagnosis of RYR-1-RD, prevalence and natural history, clinical trial readiness and technology integration, RyR1 pathophysiology, animal model research, the evolving therapeutic pipeline, and physical therapy and exercise approaches.

We’re also thrilled to announce that AFM-Téléthon has awarded The RYR-1 Foundation a grant to support the Research Workshop. We are honored and deeply grateful for their partnership.

Sponsorships are still being accepted for both the Research Workshop and Family Conference. We are so appreciative of our current sponsors and welcome anyone who would like to support these cornerstone events.

One special request: Mike (Board President, Co-Chair of Research—and coincidentally, my husband!) is chairing the Therapeutic Pipeline session and is asking for your help to show the Faces of RYR-1-RD during his session introduction. Please take a moment to complete the form below and contribute. Your stories and presence have a profound impact on the researchers in attendance.

We’re also excited to be partnering with Triage Health, sharing their valuable resources with the RYR-1-RD community. Be sure to register for their upcoming free webinar on insurance coverage denials to better understand how to advocate for your healthcare needs.

Lastly, if you haven’t already, I strongly encourage you to consider enrolling in the Natural History Study at the National Institutes of Health in Bethesda, Maryland. More details are provided below.

I can’t wait to see many of you very soon!

Best Wishes,

Lindsay Goldberg, BSN, RN
Executive Director, Patient Liaison & Co-Founder
The RYR-1 Foundation

More than 190 individuals from seven countries are participating in The RYR-1 Foundation International Family Conference 2025, an event designed to offer something for everyone!

While kids enjoy activities at the Funhouse Clubhouse and teens connect in The Teen Spot, adults can participate in a variety of educational opportunities—including expert presentations, patient-led panels, and one-on-one consultations. New at this year’s Family Conference: The Social Hub — an adult lounge experience designed as a quiet, comfortable space where adults can take a break from sessions, relax, and connect with others.

Expert session topics will include an overview of RYR-1-related diseases, genetics, gene therapy, current treatments, recent research and future therapeutic approaches, among others. Additional sessions will cover a wide variety of medical topics, including malignant hyperthermia and pulmonary care.

Some practical sessions will also be offered, addressing personal and legal considerations, financial planning, school accommodations, and legal rights under the Americans With Disabilities Act (ADA). Patient-Led Panels will explore topics such as travel, dating, and living with the Malignant Hyperthermia Phenotype, along with many other real-life considerations.

Kids, teens, and young adults can take advantage of special programming ranging from a patient-led session on career paths to a questions and answers session with medical experts, among other engaging topics.

In addition, all participants will have access to one-on-one consultations and group sessions. Consultations will cover a variety of topics, such as genetic interpretation and individualized educational plans. Group sessions include chair yoga and physical therapy! See the full Family Conference agenda below with all of the details!

“Besides education, the Family Conference offers meaningful opportunities for the RYR-1-RD community to connect,” said Executive Director, Patient Liaison & Co-Founder of The RYR-1 Foundation, Lindsay Goldberg, BSN, RN. “These social moments are not only enjoyable—they’re essential for building a strong, supportive community and making Strength In Numbers a reality. We can’t wait to welcome everyone!”

Contact Lena Leghart for questions related to the Family Conference.

Family Conference Agenda

AFM-Téléthon (Association Française contre les Myopathies), a French nonprofit organization dedicated to supporting individuals affected by rare, progressive, and often severely disabling genetic neuromuscular diseases, has recently awarded a grant to The RYR-1 Foundation in support of the 2025 RYR-1-Related Diseases Patient-Led International Research Workshop: Novel Perspectives, Treatments & Interventions (Research Workshop). AFM-Téléthon was created out of a desire to cure diseases that were long considered to be incurable.

The grant, in the amount of €‎6,000, will help cover the costs of the Research Workshop.

“We deeply appreciate this grant from AFM-Téléthon,” said Executive Director, Patient Liaison, and Co-Founder of The RYR-1 Foundation, Lindsay Goldberg, BSN, RN. “This grant helps underwrite the cost of the Research Workshop, allowing experts from around the world to meet and collaborate in person with each other and affected individuals and their families.”

The Muscular Dystrophy Association is also providing a grant for the Research Workshop.

To learn more about AFM-Téléthon visit their website.

To learn more about the Muscular Dystrophy Association visit their website.

Sponsors of the Research Workshop and the Family Conference are more than sponsors—they are catalysts for change and making connections, said Executive Director, Patient Liaison, & Co-Founder of The RYR-1 Foundation, Lindsay Goldberg, BSN, RN.

“Sponsors help bring innovation to life through the Research Workshop, paving the way for new treatments and ultimately, a cure,” she said. “They also make it possible for families and individuals to build lifelong connections at the Family Conference.”

The Research Workshop is sponsored by Eagle Pharmaceuticals and RyCarma Therapeutics.

Sponsors of the Family Conference include RyCarma Therapeutics, Eagle Pharmaceuticals, Strassburger, McKenna, Gutnick & Gefsky, G3 Fabrication, and D.F. Dent.

“We are incredibly grateful for the support of our sponsors,” she said. “Their generosity allows us to continue building a global community of families and individuals, while also bringing scientists and healthcare providers together to collaborate in person.” she said.

Discover how you can be part of these monumental events through sponsorship, view the Family Conference Sponsorship Opportunities and Research Workshop Sponsorship Opportunities.

Join RyCarma Therapeutics, Eagle Pharmaceuticals, Strassburger, McKenna, Gutnick & Gefsky, G3 Fabrication, and D.F. Dent, in making an incredible difference in the lives of individuals and families as sponsors of The RYR-1 Foundation International Family Conference 2025 (Family Conference)!

There is still time to sponsor the Family Conference, and by doing so, provide the ability for families and individuals to participate in the full agenda of events and education. Sponsors also make it possible for participants 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 and questions about Family Conference Sponsorship opportunities, contact Pat Raffaele.

There is still time to help advance research in RYR-1-RD by sponsoring the 2025 RYR-1-Related Diseases Patient-Led International Research Workshop: Novel Perspectives, Treatments & Interventions (Research Workshop). 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 of the Research Workshop help bring together not only researchers, but also patients,” said The RYR-1 Foundation’s Executive Director, Patient Liaison & Co-Founder, Lindsay Goldberg, BSN, RN. “They make it possible for patients and researchers from around the world to meet in person, form meaningful collaborations, and learn from one another.”

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.

Patients, scientists, and healthcare providers will meet in person at the invitation only 2025 RYR-1-Related Diseases Patient-Led International Research Workshop: Novel Perspectives, Treatments & Interventions (Research Workshop) on July 23 & July 24.

The Research Workshop highlights both cutting-edge research and the patient perspective, with patient testimonials integrated throughout the program. The Research Workshop features six sessions, each beginning with individuals affected by RYR-1-RD sharing their lived experiences.

Attendees comprise scientists, healthcare providers, early-career researchers, trainees, and patients from across the globe.

The Research Workshop sessions and their leaders are as follows:

Session 1: Diagnosis & Genetics of RYR-1-Related Diseases (RYR-1-RD)
- Livija Medne, MS, LCGC
Session 2: Establishing Clinical Trial Readiness for RYR-1-RD
- Payam Mohassel, MD
Session 3: Novel Insight into RyR1 Interplay and Cell Pathophysiology
- Johanna Lanner, PhD
Session 4: Translational Studies & Therapeutics Development Part I
- Johanna Lanner, PhD
Session 5: Therapeutic Pipeline
- Michael Goldberg, MD, MPH
Session 6: Physical Therapy & Exercise Approaches in RYR-1-RD
- Mairéad Ryan, BS, V27

“We fully anticipate robust discussions on current and emerging research, framed by patients sharing their experiences with RYR-1-RD,” said Board President, Co-Chair of Research, & Co-Founder, Michael Goldberg, MD, MPH. “These conversations will likely foster collaborations that can lead to new treatments and, someday, a cure.”

Research Workshop Agenda

Help scientists attending the 2025 RYR-1-Related Diseases Patient-Led International Research Workshop: Novel Perspectives, Treatments & Interventions (Research Workshop), better understand the real-world impact of RYR-1-Related Diseases (RYR-1-RD) on patients and families by sharing photos, videos, and/or a quote about how RYR-1-RD impacts your daily life.

As chair of the Research Workshop session Therapeutic Pipeline, Board President, Co-Chair of Research, & Co-Founder, Michael Goldberg, MD, MPH, will open the session with pictures and stories of individuals affected by RYR-1-RD and their families.

“I want 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,” Dr. Goldberg said. “The introduction to the session, Faces of RYR-1-RD, is a powerful way to show the scientific community who they’re working for and why their work is so important.”

Individuals and families affected by RYR-1-RD have the opportunity to be featured in the session introduction by:

Uploading photos or videos
Providing a short quote about how RYR-1-RD affects daily life—and what a cure would mean

To participate, please submit materials using the Faces of RYR-1-RD Form by July 18, 2025.

Faces of RYR-1-RD Form

The RYR-1 Foundation is partnering with Triage Health to present a free webinar: What to Do When An Insurance Company Denies Coverage. The webinar will be held on August 12, 2025, at 2 pm ET / 1 pm CT / 11 am PT.

This informative session will guide participants through the steps to take when an insurance company denies coverage. The webinar will cover the appeals process for individual and employer-sponsored health plans, Medicare denials, and Medical Assistance denials.

Chief Operating Officer of Triage Cancer, Monica Fawzy Bryant, Esq., will be the featured speaker.

Triage Health provides free education on legal and practical issues related to managing chronic or serious medical conditions, including navigating healthcare and insurance systems.

Contact Lena Leghart with questions.

The Natural History Study on RYR-1-Related Disorders (RYR-1-RD) being conducted at the National Institutes of Health (NIH) is now accepting participants! The study aims to better understand the clinical features and progression of RYR-1-Related Disorders (RYR-1-RD) in both children and adults.

Leading the study is Tokunbor A. Lawal, PhD, FNP-BC, an independent research scholar in the Division of Intramural Research at the NIH.