June 2024 Newsletter
June 4, 2024
June 2024 Newsletter

Dear Friends,

Join The RYR-1 Foundation’s President, Board of Directors, and Co-Chair of Research, Mike Goldberg, MD, MPH, and Executive Director, Lindsay Goldberg, BSN, RN, along with many others in the RYR-1-RD community, in signing a petition, to sustain funding for research on RYR-1-Related Diseases (RYR-1-RD) from the National Institutes of Health (NIH).

Research on this rare disease is necessary to find an effective treatment or cure for RYR-1-RD. The NIH, in general, and the National Institute of Nursing Research (NINR), have played an important role in RYR-1-RD research.

The NIH, NINR, and other Institutes within NIH, currently support funding for RYR-1-RD, and have in the past. The RYR-1 Foundation is concerned that funding for research on RYR-1-RD may be reduced. This would have a negative impact on affected individuals and families.

The RYR-1 Foundation is the only organization in the world that is dedicated to supporting research, providing medical education, and providing patient/family support and advocacy for those in the RYR-1-RD community.

Help our organization share the message and show the strength of the RYR-1-RD community by signing on to the organization’s petition and share with others!

For more information contact Lindsay Goldberg at lindsay@ryr1.org or Patricia Raffaele at patricia@ryr1.org.

Sign the Petition & Share With Others

Help The RYR-1 Foundation by contributing to fund a Prevalence Study. The Prevalence Study will be led by Heinz Jungbluth (King’s College London), MD, PhD, a thought leader within RYR-1-Related Diseases (RYR-1-RD). This study will occur as a multi-center collaboration within Europe. We have committed to fund this study through restricted funds provided by generous donors. Increases in costs are necessary to perform a successful study that will bring valid data. This has resulted in the need for an additional $130,000 for this study. Fortunately, the organization was able to secure funding from a pharmaceutical company, leaving a funding gap of $80,000. 

By establishing the true prevalence of RYR-1-RD, this study will hopefully lead to more investment by pharmaceutical companies, researchers, biotech firms, and venture capital firms. Ultimately, the hope is that this will accelerate the development of therapies for RYR-1-RD. 

An original donor of this study has agreed to a $40,000 matching pledge, challenging The RYR-1 Foundation to raise $40,000 to receive this matching donation. We are asking the RYR-1-RD community to donate towards this study to receive the $40,000 matching donation! Every dollar is matched dollar for dollar and no amount is too small to help us get there! Please consider supporting this matching campaign to fund this Prevalence Study. Strength In Numbers will get the RYR-1-RD community and The RYR-1 Foundation there together!

When donating, please “dedicate” donation for the Prevalence Study!


The Scientific Advisory Board (SAB) welcomes several new members. The new members are:

Minal Jain, PT, AT, DSc, FAPPA, is a research physical therapist and the physical therapy section research coordinator within the Rehabilitation Medicine Department at the NIH Clinical Center. Dr. Jain has been an associate investigator on many protocols related to neuromuscular diseases, including RYR1- related diseases.

Heinz Jungbluth, MD, PhD, is Professor of Paediatric Neurology at King’s College London and Consultant Paediatric Neurologist at the Evelina Children’s Hospital; St Thomas’ NHS Foundation Trust, London, UK, with more than 25 years clinical experience in Paediatric Neurology.

Isabelle Marty, PhD, is Research Director at the “Institut National de la Santé et de la Recherche Médicale,” the French NIH. Dr. Marty is currently leading the research team “Cellular Myology and Pathologies” at the Grenoble Institute of Neurosciences, Grenoble, France, and she is co-director of the Grenoble Institute of Neurosciences.

Ichizo Nishino, MD, PhD, is the Director of the Department of Neuromuscular Research at the National Institute of Neuroscience (NIN), National Center of Neurology and Psychiatry (NCNP) in Tokyo, Japan.

Learn More About Our SAB & New Members

Start planning your trip to Pittsburgh, Pennsylvania USA for The RYR-1 Foundation International Family Conference 2025! The Family Conference will be held July 24, 2025 through July 27, 2025 in Pittsburgh, Pennsylvania, USA. The event will be held at the Hyatt Regency Pittsburgh International Airport. More information about registration and hotel reservations will be announced this Fall!

The Planning Committee is hard at work to make the Family Conference a time for individuals and family members to share experiences, resources, learn, make new friends, and reunite with old friends.

For more information contact Lena Leghart at lena@ryr1.org.

The RYR-1 Foundation International Family Conferences

The RYR-1 Foundation received Letters of Intent (LOIs) from researchers around the world in response to its announcement of a new round of Individual Investigator Research Grant Awards. Researchers from 12 countries submitted 23 LOI by May 18, 2024.

“We are excited about the LOIs that have been submitted, and the international response to the invitation to submit LOIs,” said President, Board of Directors, and Co-Chair of Research, Michael Goldberg, MD, MPH.

Countries represented are Australia, Brazil, Canada, China, England, France, Germany, Israel, Italy, Netherlands, Switzerland, and the United States.

Applicants will be informed if they are invited to move forward and submit a full proposal following review from members of the Scientific Advisory Board. If selected, applicants will have until October 19, 2024, to submit their full proposals. Those proposals will be reviewed and grants will be awarded in early 2025.

The almost $500,000 in research grant funding will be distributed to Individual Investigators in specific research priorities within RYR-1-Related Diseases.

More Information About Current & Prior Funded Research

Cody Hodgson, former National Hockey League player and Board Advisor of The RYR-1 Foundation who recently had a comeback to the American Hockey League, announced his official retirement from professional hockey due to symptoms of malignant hyperthermia (MH). He announced his official retirement on May 2, 2024, after his final hockey game in Mid-April 2024. His retirement ends his comeback after an 8-year hiatus from playing hockey, due to MH.

“Even though I had to stop playing, I’m glad I tried,” Hodgson told The RYR-1 Foundation. “I always promised myself that if I ever felt good enough to play again that I would at least try. What I’ve learned while pursuing this dream has helped me and hopefully others that are struggling with the disorder. The techniques I’ve learned to deal with MH have allowed me to get back into a regular routine and feel like my younger self. Even though I couldn’t fulfill my ultimate dream of playing in the NHL again, I hope it will encourage others to try to find ways to cope and feel better.”

Hodgson also expressed his hope to inspire others with RYR-1-related diseases in an interview with reporter Thomas Drance for an article in The Athletic.

“We deeply appreciate Cody’s ongoing support of The RYR-1 Foundation,” said Executive Director Lindsay Goldberg. “By sharing his own experience publicly and with others affected with RYR-1-Related Diseases (RYR-1-RD), he not only continues to raise awareness of RYR-1-RD, but offers inspiration to others affected with a RYR-1-RD.”

The Article in The Athletic by Thomas Drance

The RYR-1 Foundation will be hosting its second Patient-Led International Research Workshop on July 23, 2025 to July 24, 2025 at the Hyatt Regency Pittsburgh International Airport. The Research Workshop will immediately precede The RYR-1 Foundation International Family Conference 2025.

The Research Workshop will bring together an international group of experts, researchers, medical professionals, trainees, and affected families focused on RYR-1-Related Diseases (RYR-1-RD) to share knowledge and exchange ideas.

The Co-Directors of the Workshop held their first two meetings and are planning an exciting and interesting array of topics for workshop participants.

For more information contact Lindsay Goldberg at lindsay@ryr1.org or Patricia Raffaele at patricia@ryr1.org.

Patient-Led International Research Workshop

Individuals, families, caregivers, and others affected by RYR-1 Related Diseases (RYR-1-RD) can now sign up for BandHealth, a new resource through a partnership with The RYR-1 Foundation. BandHealth is an app that connects individuals with others that understand RYR-1-RD for meaningful support. Currently the app is only available to those in the United States.

“The RYR-1 Foundation is partnering with BandHealth to provide this resource to the RYR-1-RD community because we know how important it is to have closer connections with others in the RYR-1-RD community,” said Executive Director Lindsay Goldberg.

“BandHealth will enable individuals to directly communicate with others providing support and other resources.”

By joining BandHealth individuals can chat with matchers, access resources, and attend education events.

BandHealth is a support system for peers and is not meant to be used for medical advice.

BandHealth can be downloaded from the Apple App or Google Play Stores.

For more information contact Lena Leghart lena@ryr1.org or Lindsay Goldberg at lindsay@ryr1.org.

Apple App

Google Play


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