2022 In Review

“Countless times, The RYR-1 Foundation has provided us with critical information and has helped us to get into direct contact with amazing specialists when we have run into the issue of doctors knowing nothing about this disease. Scary times have turned into more hopeful feelings because of this process, and we can’t thank The RYR-1 Foundation enough. Please give what you can today to support this growing effort.”

– Parent of a child affected by an RYR-1-related disease

Despite the many challenges that confront all of us, including the lingering pandemic and inflation, 2022 has been another amazing year for The RYR-1 Foundation. As I look back on the numerous achievements The RYR-1 Foundation had in 2022, I am once again reminded how critical our donors’ support has been to our success. Below you will find a summary of our accomplishments over the past 12 months. 

Highlights of the last 12 months include:

1. 2022 RYR-1 International Family Conference: The third RYR-1 International Family Conference took place on July 22-July 24, 2022, in Pittsburgh, Pennsylvania. With almost 200 attendees from eight different countries and 17 invited speakers, the conference was a huge success. The entire agenda and photographs from this Family Conference can all be viewed on the 2022 Family Conference web page. The conference would not have occurred without the tremendous support of the Schooner Foundation and the Ryan Family, our hard working volunteers, and our numerous world-renowned speakers. In addition to hearing from the world’s leading experts in RYR-1, attendees also had a chance to form connections with other affected individuals and families. For many individuals with RYR-1 muscle disease, they had never met anyone else with their diagnosis. To spend three days with individuals and families who understand their condition is an emotionally moving experience. The following quote, from an attendee of the Family Conference, is illustrative of the tremendous value of this event: “We are extremely grateful for this conference and the opportunity to meet other families who have a member with this disability and to be understood. We are especially thankful for the brilliant doctors and researchers — experts in this myopathy — who were willing to share their high level of expertise with all of us.”
   
2. RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments: Preceding the Family Conference, The RYR-1 Foundation hosted a two-day International Research Workshop in Pittsburgh on July 21-22, 2022. With 45 in-person attendees and ten virtual attendees from 11 different countries, this workshop provided a much-needed forum for internationally-recognized RYR-1 experts as well as for a group of affected individuals to share knowledge, exchange ideas, form collaborations, and develop new strategies for finding therapies. The manuscript arising from this workshop has already completed editorial review and has been accepted into the Journal of Neuromuscular Disease, the leading publication for neuromuscular disease.
3. Research: The support of our donors has been critical to the success we have had in funding important research that has advanced the field of RYR-1-related diseases. The projects have helped experts better understand the mechanisms of RYR-1 muscle diseases, leading to insights on potential therapeutic strategies. Importantly, the genetically modified RYR-1 mice we developed have been successfully shipped to numerous labs and are now the subject of active research in North America, Europe, and Australia. In addition, The RYR-1 Foundation is currently funding over $850,000 of RYR-1 research in six countries, and since our inception, we have funded over $1.7 million in research. As part of the International Research Workshop and a recent Scientific Advisory Board (SAB) meeting, members of SAB received updates on our currently funded research. Moreover, as a sign of the growing importance of The RYR-1 Foundation, the research and principal investigators that we have funded played a prominent role in the 2022 Annual Congress of the World Muscle Society (WMS), the leading scientific meeting for neuromuscular disease. Importantly, we are focusing our efforts not only in supporting research at academic centers, but also in the biotech industry. Several biotech companies have recently approached me about applying their technology to RYR-1-related diseases. Several of these companies made presentations at our recent SAB meeting and received invaluable feedback from the SAB members. I believe that facilitation of these kinds of interactions between the biotech industry and our RYR-1 experts to be one of my most important responsibilities. I think it will be the key to expediting the development of new and effective therapies.
4.  Fundraising: The RYR-1 Foundation has exceeded its fundraising expectations! In 2021 alone, we raised $500,000. These funds will significantly impact our mission: 1) To support research leading to an effective treatment or a cure for RYR-1-related diseases, and 2) To improve the lives of the families and individuals affected by RYR-1-related diseases. The work we do would not be possible without the generous support of many wonderful benefactors. Please consider making a donation.
5. New Website: The RYR-1 Foundation worked with a professional web developer who has experience with small public charities to create a new website. The new design will help The RYR-1 Foundation foster greater engagement with all of its stakeholders: individuals and families affected by RYR-1, clinicians and researchers, biotech and pharmaceutical companies, and donors, with the ultimate goal of advancing the mission of The RYR-1 Foundation. I am particularly excited about our new “video gallery.” which will serve as a tremendous resource for our community.
   

Clearly, it has been a very busy and productive year! And, as the quotation at the start of this letter demonstrates, The RYR-1 Foundation has turned “scary times” into “hopeful feelings” for the RYR-1 community. 

Of course, none of these accomplishments would have been possible without our donors, Board of Directors, Board of Advisors, Scientific Advisory Board, and volunteers. So, thank you to everyone who helped! Many challenges and opportunities await, and I look forward to transforming our slogan, Strength In Numbers, into a reality.

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