Register for The RYR-1 Foundation International Family Conference 2025 by December 31, 2024, to receive a discount! The registration discount is available until 11:59 pm Pacific Standard Time. 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 and features:
- 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!
In addition, those interested in volunteering during the Family Conference, email Lena Leghart.
For more information (additional details coming soon) and to register click below!
Register for the Family Conference
Sponsor the Family Conference and inspire individuals and families from across the globe to participate in this special event. By becoming a sponsor, and helping to keep conference costs lower, more individuals and families have the opportunity to participate in the only international Family Conference focused solely on those with an RYR-1-Related Disease (RYR-1-RD).
Sponsors have the opportunity to interact with individuals and families by attending the event, having a table or a booth, and introducing a speaker. Benefits, which vary by level, also include a comprehensive social media package and recognition before, during, and after the Family Conference. Custom sponsorships are also available and sponsorships start at $1,000!
The RYR-1 Foundation looks forward to partnering with sponsors!
For more information contact Pat Raffaele.
Family Conference Sponsor Opportunities
The review process of proposals submitted for The RYR-1 Foundation’s Research Grants is underway. The RYR-1 Foundation received 20 proposals from investigators from 10 countries: Australia, Canada, England, France, Germany, Israel, Italy, Netherlands, Switzerland, and the United States.
Reviews and scores will be presented and discussed at the December 2024 Scientific Advisory Board meeting. The goal is to select four research grants to fund in early 2025.
The Research Grant Priority Areas for this round of funding are: novel therapeutic approaches to RYR-1-Related Diseases (RYR-1-RD); cell and molecular mechanisms of RYR-1-RD and other muscle disease; and Regenerative Medicine (RM).
For more information on research grants, email Michael Goldberg, Co-Chair of Research.
To learn more about currently funded research, click below.
The questionnaire survey study RYR1 Survey Study 2024 is still open and accepting participants. The study is focused on the association between RYR1 variants (mutations) and muscle pain, exercise tolerance, and fatigue.
Some individuals affected by RYR-1-Related Diseases (RYR-1-RD) as well as families, friends, and others not affected by RYR-1-RD (control subjects), can participate in the questionnaire survey study.
Participants in the questionnaire need to be individuals with known RYR1 variants and a history of Malignant Hyperthermia (MH) or myoglobinuria (presence of an excess amount of myoglobin, a protein found in muscle, in the urine; mostly caused by muscle breakdown, releasing a high amount of myoglobin in the blood).
In addition, individuals who DO NOT have known RYR1 variants, or a medical history of MH or a history of myoglobinuria are also needed as control subjects (a group of people who are used for comparing another group in a study). Family and friends of RYR-1-RD affected individuals can serve as control subjects and are encouraged to complete the questionnaire.
Robert Gerwin, MD, a retired neurologist who served on the faculty of Johns Hopkins School of Medicine, and a retired private practitioner of neurology and pain medicine in Bethesda, Maryland, United States, is conducting the questionnaire survey study. He has published extensively about myofascial pain disorders, and has lectured and taught around the world.
All participants are anonymous and there is no further contact once the questionnaire is submitted. Dr. Gerwin expects to be finished collecting data by the end of 2024, and the results will be shared with the RYR-1-RD Community.
Before participating in the Survey Questionnaire visit the RYR1 Survey Study 2024 website and read the informed consent.
For additional information contact Dr. Robert Gerwin.
By sponsoring the 2025 RYR-1-Related Diseases (RYR-1-RD) Patient-Led International Research Workshop: Novel Perspectives, Treatments and Interventions, 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:
- 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 the Research Workshop begin at $1,000 and benefits vary by level. Custom sponsorships are also available.
The Research Workshop will be held July 23 – July 24, 2025 at the Hyatt Regency Pittsburgh International Airport in Pittsburgh, Pennsylvania, U.S.
For more information contact Pat Raffaele.
Research Workshop Sponsorship Opportunities
The RYR-1 Foundation hosted a webinar last month featuring Jeremy Armann, PhD, about his research focused on Educational Experiences of Students with RYR-1-Related Disease (RYR-1-RD). The webinar recording is now available for viewing.
His study, completed for his doctoral degree at Duquesne University, Pittsburgh, Pennsylvania, U.S., 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 reviewed 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.
For more information contact Lena Leghart.
The RYR-1 Foundation is grateful to its donors and funders, not only for donations, but also for their commitment to The RYR-1 Foundation and the RYR-1-Related Diseases (RYR-1-RD) Community. Every single donation, no matter the amount, impacts individuals and families affected by RYR-1-RD.
This season also marks the opportunity to provide a gift to The RYR-1 Foundation before the end of the year. GivingTuesday, a day which allows organizations to focus on a one-day giving opportunity, will be held on December 3, 2024. Donors can support The RYR-1 Foundation by participating in GivingTuesday. Stay tuned for more information on how to support the organization on this special day!
Because this is also the end of the year, donors will have the opportunity to provide a gift in response to a letter highlighting the organization’s 10-Year Anniversary.
“On behalf of the organization, I want to thank our donors, funders, and the entire RYR-1-RD Community for your continued support,” said Executive Director, Patient Liaison & Co-Founder of The RYR-1 Foundation, Lindsay Goldberg, BSN, RN.
For more information contact Lindsay Goldberg or Pat Raffaele.
