Dear Friends,
We met the $40,000 Prevalence Study Match! The RYR-1 Foundation would like to thank the many donors who have made this possible. Thank you to those of you who donated, who shared information about the Match, and those of you who continue to raise awareness of RYR-1-Related Disease (RYR-1-RD).
We could not have met this Match without the generosity and perseverance of the RYR-1-RD Community. This is especially meaningful because this coincides with our 10th Anniversary, which is October 1, 2024. This is one example of how our Strength In Numbers makes a big difference now and has made a difference throughout the past decade.
I appreciate the ongoing support and involvement of the RYR-1-RD Community and our committed donors. Thanks again for making a difference as a Community!
Best Wishes,
Lindsay Goldberg, BSN, RN
Executive Director, Patient Liaison & Co-Founder
The RYR-1 Foundation
Registration for the Family Conference 2025 is now open! Registration opened on October 1, 2024, the 10th Anniversary of The RYR-1 Foundation. The Family Conference will be held July 24 – July 27, 2025 at the Hyatt Regency Pittsburgh International Airport,
The 2025 Family Conference will feature:
- Educational lectures and interactive panel discussions with professionals and members of the RYR-1-Related Diseases (RYR-1-RD) Community
- Enhanced social activities
- A revamped Kids Club
- Opportunities to connect and share experiences with others in the RYR-1-RD Community
- And more!
Join us in celebrating a decade of support for families and individuals affected by RYR-1-RD by registering for the Family Conference! Register by December 31, 2024, at 11:59 pm Pacific Standard Time to receive an “early bird” discount.
We’re excited to meet and reconnect with the RYR-1-RD Community at the Family Conference!
Those interested in volunteering during the Family Conference can email Lena Leghart.
For more information and to register click below!
Members of the RYR-1-RD Community including affected individuals, caregivers of affected individuals, healthcare providers caring for affected individuals with RYR-1-RD, and researchers working on RYR-1-RD, are invited to participate in two National Institutes of Health (NIH) research studies.
RYR-1 Database
Joshua Todd, PhD, CCRP, MBA, staff scientist at the National Institutes of Health in the divisions of the National Institute of Neurological Disorders and Stroke and the National Institute of Nursing Research, is working on an RYR1 Database research grant co-funded by the Muscular Dystrophy Association and The RYR-1 Foundation.
The goal of this study is to support research and clinical trial readiness and to enhance the understanding of RYR-1-RD for affected individuals and their caregivers, researchers/scientists, and medical providers.
Individuals 18 years of age and older and self-identify as being in one of the above
stakeholder groups are encouraged to participate in this survey. To access the survey, click on the button below or scan the QR code on the above flyer. The survey takes approximately 15 to 20 minutes to complete.
For additional information about the RYR1 Database contact Irene Chrismer, RN and/or Joshua Todd, PhD, CCRP, MBA.
NIH Clinical Study on RYR-1-Related Disorders (RYR-1-RD)
Eligible individuals living in the United States with a confirmed genetic diagnosis of an RYR-1-Related Disorder (RYR-1-RD) are invited to participate in a research study being conducted by Tokunbor A. Lawal, PhD, FNP-BC, and his team at the National Institutes of Health. Dr. Lawal is an independent research scholar in the Division of Intramural Research.
The study is designed to describe the clinical manifestations and course of RYR-1-RD in children and adults. Individuals may be eligible for the study if they are:
- At least 7 years of age with a confirmed genetic diagnosis of an RYR-1-RD (including all signs and symptoms)
- Live in the United States
Individuals may not be eligible if:
- The person has other neuromuscular diseases resulting in muscle weakness
Please note that enrollment in the study begins in January 2025.
To participate or receive more information, contact the NIH Office of Patient Recruitment at (800) 411-1222 and refer to research study #001737.
Join the next webinar hosted by The RYR-1 Foundation and learn from Dr. Jeremy Armann, about his research focused on Educational Experiences of Students with RYR-1-Related Disease. The webinar will be held from 5 p.m. to 6 p.m Eastern Time, USA, on October 22, 2024.
His study, completed for his doctoral degree, at Duquesne University, Pittsburgh, Pennsylvania, USA, investigated the educational experiences of children and adolescents diagnosed with a RYR-1-RD. The purpose of the study was to better understand common classroom difficulties, special education identification, special education services, parental satisfaction with special education services, and the behavioral and emotional functioning among children with a RYR-1- RD.
He will review the results of the study in areas of focus, including: common classroom difficulties, special education parental satisfaction, types of school-based services, and behavioral and emotional risk.
Please submit your questions ahead of time by October 13th!
For more information contact Lena Leghart.
Support a meaningful cause, make a difference, and gain global brand awareness by becoming a sponsor of The RYR-1 Foundation International Family Conference 2025 (Family Conference) and/or the 2025 RYR-1-Related Diseases Patient-Led International Research Workshop: Novel Perspectives, Treatments & Interventions (Research Workshop).
Help Keep The Family Conference Affordable and Gain Benefits!
Here are some considerations for sponsors of the Family Conference:
- Families Helping Families – By becoming a sponsor, RYR-1-RD Community members with family businesses can make a huge difference in the lives of those attending the Family Conference.
- Spread the Word – Share the sponsorship opportunities with others who own their own businesses.
- Share what the Family Conference and The RYR-1 Foundation means to you and your family when talking to other potential sponsors.
Support Innovation: Sponsor the Research Workshop!
By sponsoring the Research Workshop, organizations have the opportunity to support the only Research Workshop dedicated solely to RYR-1-RD. Sponsors support a meaningful exchange of breakthroughs in research among scientists, affected individuals, and healthcare providers from around the world.
In addition sponsors can:
- Enhance brand visibility globally
- Connect with experts, potential collaborators, affected individuals & families, and thought leaders who are passionate about RYR-1-RD research
Sponsorships for both the Family Conference and the Research Workshop begin at $1,000 and benefits vary by level. Custom sponsorships are also available.
The Family Conference will be held from July 24 through July 27, 2025 and the Research Workshop will be held July 23 through July 24, 2025 both at the Hyatt Regency Pittsburgh International Airport in Pittsburgh, Pennsylvania, USA.
For more information contact Patricia Raffaele.
Family Conference Sponsorship Opportunities
Research Workshop Sponsorship Opportunities
Watch for The RYR-1 Foundation November Newsletter to learn about participating in a Congressional Advocacy Campaign effort focused on ensuring there is funding available for RYR-1-Related Diseases research in the United States. The congressional advocacy campaign will start in November 2024 and continue through the federal government’s budget process.
The Campaign will focus on requests to increase funding from the National Institutes of Health and the Department of Defense for RYR-1-RD research. Participants can send personal letters and emails to their legislators requesting for support for this funding increase during the budget process.
“This is a great opportunity to reach out to legislators, share your experiences with having a RYR-1-RD, and help ensure there is adequate funding to conduct the important research needed to find a treatment or cure for RYR-1-RD,” said Executive Director, Patient Liaison & Co-Founder of The RYR-1 Foundation, Lindsay Goldberg, BSN, RN.
In the meantime, take a few minutes and watch this inspiring news clip from Barbara Bailey, about why she is personally involved in advocacy for RYR-1-RD funding.
News Clip Featuring Barbara Bailey
For more information contact Lindsay Goldberg or Patricia Raffaele.
