2023 In Review

“Please find a cure.”

– Comment posted in October 2023 on The RYR-1 Foundation’s Facebook page.

In this year’s annual “End-of-the-Year” letter, we are eager to share with you the many exciting accomplishments we have achieved in the last 12 months at The RYR-1 Foundation. These achievements have helped to professionalize our organization, advance research, and raise awareness of RYR-1-related diseases (RYR-1-RD). As detailed below, these will help further our mission of finding a treatment or cure for RYR-1-RD and providing resources for the RYR-1-RD community.

Of course, none of this would have been accomplished without your continued support and generosity. We are deeply proud of everything that we have done and are filled with excitement as we enter the upcoming new year.  

1. Research:

 

The RYR-1 Foundation is currently funding almost $600,000 of RYR-1-RD research in six countries. Since our inception, we have funded over $1.5 million in research. Our support of research has led to tangible results. Specifically, in 2023 alone, research that we have supported and/or collaborated on has led to the publication of seven articles in peer-reviewed journals. 

 

Additionally, as a sign of the growing influence of our organization, the research and principal investigators that we have funded played a prominent role in the 2023 Annual Congress of the World Muscle Society (WMS) held October in Charleston, SC. The WMS is the leading scientific meeting for neuromuscular diseases, and we were gratified to see that six of our Scientific Advisory Board (SAB) members were at the meeting and collectively gave 28 presentations.  

 

Lindsay Goldberg (Business Manager & Patient Liaison) and Mike attended the WMS  meeting. This was an invaluable opportunity for the leadership of The RYR-1 Foundation to raise awareness of RYR-1-RD and to network with stakeholders from around the world, including researchers, clinicians, patient advocacy organizations, and biotech/pharmaceutical companies. To view pictures and a highlight video from this meeting, please go to: ryr1.org/news/wms2023.

 

2. Fundraising:

 

We are pleased that two affected families took the initiative to host successful fundraisers this year. The Woomer family in Lexington, KY hosted the “Miles 4 Maisie” fundraiser for a 10K race that occurred in July 2023. To learn more about Maisie and this event, please go to: ryr1.org/news/maisie2023.  The Thomason family in Columbia Center, OH hosted the  “Strength 4 Harper” fundraiser. To learn more about Harper and this event, please go to: ryr1.org/news/harper2023. Collectively, these two events raised over $50,000 for The RYR-1 Foundation. It is extremely gratifying to see the RYR-1-RD community take a more active role in raising funds to aid our organization execute its mission. 

 

Based on the success of these two family-led fundraisers, we plan to promote the use of The RYR-1 Foundation’s Fundraising Toolkit to assist other members of the RYR-1-RD community in hosting fundraisers. 

 

Due to your generosity, The RYR-1 Foundation has once again exceeded its fundraising expectations! In 2023 alone, we have raised almost $400,000 – Thank you. 

 

3. Clinical Care Guidelines:

 

Due to a generous donation from an affected family in Brazil, the organization translated the Clinical Care Guidelines (CCG) into Portuguese, a language that is spoken by about 200 million people. Anecdotally, there are a large number of RYR-1-RD patients in Brazil, and we are elated that we can now make the CCG accessible to them and other Portuguese speakers. There are now a total of nine translations of the CCG! To view the CCG, please visit: ryr1.org/CCG.

 

4. On the Horizon:

 

In 2024, with our increased staffing, we are seeking to grow our programming for our families through webinars, podcasts, and the development of “affinity groups” which will connect people virtually to provide further support. We anticipate needing funding for these important projects: 

• RYR-1-RD International Family Conference is to be held in 2025; this event brings together families from around the world for support and education. 
• RYR-1-RD Webinars will be a series of educational webinars for families and affected individuals providing them with important tools to better understand and manage RYR-1-RD. 
• Research Grant Program, led by our SAB, will continue to monitor the progress of our ongoing funded research and identify future research opportunities to be funded in the new round of research grants.

 

Clearly, it has been a very busy and productive year! And, as the quotation at the start of this letter demonstrates, affected individuals and families from around the world are relying on The RYR-1 Foundation to provide hope for a brighter future. 

 

We hope you will consider making a donation. To make a donation, please see the enclosed card, scan the QR code below, or go to our website: ryr1.org/donate. There are many other options for giving; please contact Lindsay Goldberg (lindsay@ryr1.org) if you are considering a donation or gift through your will, trust, retirement account, donor advised fund, or life insurance policy.

 

With your continued generosity, we are hopeful that we can make our motto, “Strength in Numbers,” a reality. 

 

Mike can be reached at mike@ryr1.org or on his cell phone at (267) 258-2788.

Thank you again for all of your help. 

With sincere gratitude,



Michael F. Goldberg, MD, MPH
Board President, Co-Chair of Research, & Co-Founder
The RYR-1 Foundation