As a co-sponsor, we were able to showcase our work and mission to a global audience and raise awareness for RYR-1-related diseases (RYR-1-RD). This included having a booth in the Exhibit Hall, which marked the first-time charitable, nonprofit, patient advocacy organizations were allowed to exhibit. We were able to display our brochures and other materials pertaining to RYR-1-RD, and we engaged with many attendees who visited our booth and expressed their interest and support for our cause to enhance RYR-1-RD via patient outreach and research. Furthermore, Lindsay Goldberg, Patient Liaison, also shared stories and experiences from the perspectives of affected individuals, caregivers, and advocates. It was encouraging to see that many people were eager to learn more about The RYR-1 Foundation and RYR-1-RD, and Lindsay talked to several who would like to join our community as potential providers as she also raised awareness of our Clinical Care Guidelines booklet. Lastly, Mike had the opportunity to talk with other advocacy organizations as well as researchers and leaders of the biotech industry on how to attract more interest in RYR-1-RD research and therapeutic development.

We also attended the poster presentations that were relevant to RYR-1-RD. This included two presentations that were co-authored by Dr. Mike Goldberg, and one presentation that was funded by The RYR-1 Foundation. Overall, we were impressed by the quality and diversity of the research projects and the collaborations between different institutions and countries. In addition, we had the opportunity to meet with some of the researchers who have received grant funding from The RYR-1 Foundation and express our gratitude for their valuable contributions to the field.

One of the highlights of the WMS Congress was the dinner The RYR-1 Foundation sponsored for members of our Scientific Advisory Board (SAB) and other clinicians we collaborate with. At this dinner were some of the leaders in the field of neuromuscular diseases, including Drs. Carsten Bönnemann, Alan Beggs, and Heinz Jungbluth. In addition, a member of the Board of Advisors, Brentney Simon, who resides in the Charleston area, was also able to join us.  These dedicated researchers and professionals from all around the world are deeply committed to advancing the work we do.

Lastly, Lindsay and Mike Goldberg had dinner with Drs. Angela and Monkol Lek. Dr. Monkol Lek is Assistant Professor of Genetics at Yale University School of Medicine and Dr. Angela Lek is Vice President of Research at the Muscular Dystrophy Association (MDA), and this dinner was an invaluable opportunity to discuss ways in which the MDA and The RYR-1 Foundation can work together to accelerate research and advance care as well as learning about new technologies to potentially cure/treat neuromuscular diseases.

We are very thankful for the many new connections we have made, for conversations with new potential providers, and for the future opportunities that await!

The RYR-1 Foundation Staff interacting with genetic counselor Livija Medne (SAB member)

Lindsay Goldberg and Dr. Mike Goldberg interacting with healthcare providers

A poster presentation for “Mitoquinol mesylate and n-3 polyunsaturated fatty acids: a novel therapeutic approach for RYR1-related myopathy,” a research grant that was funded by The RYR-1 Foundation

Members of The RYR-1 Foundation team, SAB, Board of Advisors, and other researchers and clinicians

Dr. Mike Goldberg with Advisor, Brentney Simon, and her family