Congratulations to several members associated with The RYR-1 Foundation who co-authored the article Individuals and Families Affected by RYR1-Related Diseases – The Patient/Caregiver Perspective, recently published in the Journal of Neuromuscular Diseases. Among the authors are: Robert Dirksen, PhD; Michael Goldberg, MD, MPH; Andrew Huseth; Heinz Jungbluth, MD, PhD; Filip Van Petegem, PhD; Jennifer Ryan, MBA; Brentney Simon; and Nicol Voermans, MD, PhD.
Dr. Goldberg serves as the President of the Board of Directors and Co-Chair of Research. Ms. Ryan serves as Vice President of the Board of Directors. Mr. Huseth serves as Secretary of the Board of Directors. Drs. Dirksen, Jungbluth, Van Petegem, and Voermans are members of the Scientific Advisory Board, and Ms. Simon serves on the Board of Advisors.
The authors include individuals affected by RYR-1-RD and is based on a patient survey conducted as part of The RYR-1 Foundation’s first Patient-Led International Research Workshop held in July 2022. More than 220 patients or their parents/caretakers participated in an online survey, developed from personal experiences shared by 12 individual patients during the 2022 Research Workshop, with input from the RYR-1-RD Community.
“This important publication is the result of a unique and collaborative effort amongst members of the RYR-1-RD Community, including individuals affected by RYR-1-RD,” said Michael F. Goldberg, MD, MPH, President, Board of Directors of The RYR-1 Foundation and Co-Chair of Research.
For more information contact Michael Goldberg.
Congratulations to several members of The RYR-1 Foundation’s Scientific Advisory Board (SAB) on recently published articles. SAB members with recently published articles are Heinz Jungbluth, MD, PhD; Isabelle Marty, PhD; Ichizo Nishino, MD, PhD; Sheila Riazi, MSc, MD, FRCPC; and Nicol Voermans, MD, PhD.
Drs. Heinz Jungbluth, Sheila Riazi, and Nicol Voermans, are among the authors of Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative review, published in the British Journal of Anaesthesia.
Dr. Ichizo Nishino is an author of the published review Update on RYR1-related myopathies, a review of RYR-1-RD (myopathies), published by Wolters Kluwer Health.
Dr. Isabelle Marty, is among the authors of, Functional benefit of CRISPR-Cas9-induced allele deletion for RYR1 dominant mutation, published in Molecular Therapy: Nucleic Acids.
“These articles, co-authored by members of The RYR-1 Foundation’s SAB represent important contributions to the medical literature and advance our understanding of RYR-1-RD,” said Michael F. Goldberg, MD, MPH, President, Board of Directors of The RYR-1 Foundation and Co-Chair of Research. “The RYR-1 Foundation has a world class group of scientists and healthcare providers on our Scientific Advisory Board.”
For more information contact Michael Goldberg.
Registration for the Family Conference will open soon! Watch for the announcement in newsletters, on the website, and on social media. An “early bird” special discount will be offered for those who register prior to December 31, 2024.
The Family Conference will be held July 24 – July 27, 2025, at the Hyatt Regency Pittsburgh International Airport. Hotel reservations will be open, with a group discount, once registration opens via a link on the registration website!
The three day Family Conference features many opportunities including socializing, activities, lectures and panels with professionals and RYR-1-RD Community members, and more!
For more information contact Lena Leghart.
Some individuals affected by RYR-1-Related Diseases (RYR-1-RD) as well as families, friends, and others not affected by RYR-1-RD, are invited to participate in a questionnaire survey study, RYR1 Survey Study 2024, focused on the association between RYR1 variants (mutations) and muscle pain, exercise tolerance, and fatigue.
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.
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.
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.
The Video Gallery*, located on The RYR-1 Foundation’s website, offers individuals and families affected by RYR-1-RD a wealth of information. The Video Gallery features documentaries about The RYR-1 Foundation, lectures from The RYR-1 Foundation International Family Conferences, webinars, patient stories, and fundraising events.
For more information contact Lena Leghart.
*Please note that the views expressed in these videos may not be the views of The RYR-1 Foundation. Please consult with a physician on information offered in the Video Gallery.
The RYR-1 Foundation is excited to welcome new providers to the Locate A Provider*, a web page dedicated to locating healthcare providers familiar with RYR-1-RD.
The following healthcare providers have been added to the web page: Natalie Katz, MD, PhD (Duke Children’s Hospital & Health Center in North Carolina); Omer Abdul Hamid, MD (Nemours Children’s Hospital in Florida); Momen Almomen, MD, FRCPC (King Fahad Specialist Hospital in Saudi Arabia); Diana Bharucha-Goebel, MD (Children’s National Hospital in District of Columbia); Meredith Greer, MD (Emory Healthcare in Georgia); Ashutosh Kumar, MBBS, FAAP (Penn State Health Pediatric Specialities in Pennsylvania); Sarah Wright, DO, MS (Children’s National Hospital in District of Columbia); Michele Yang, MD (Children’s Hospital Colorado in Colorado).
For those interested in finding and learning more about all providers, view the Locate A Provider* web page designed not only for those affected by RYR-1-RD, but also for healthcare providers who have patients with RYR-1-RD.
For healthcare providers with experience with RYR-1-RD, and who are interested in being listed, please complete the Provider Application at the top of the web page.
For more information contact Lena Leghart or Lindsay Goldberg.
*The information on this web page is provided for general informational purposes only and is not intended to be medical advice or an official endorsement. The physicians listed on this web page are independent practitioners and are not employees or agents of the organization, and the organization receives no compensation or other consideration from them in exchange for listing them. The organization does not endorse, recommend, or guarantee the quality, competence, or suitability of any physician or the services they provide, and is not responsible for any inaccurate information physicians provide in their listings. You are solely responsible for selecting and verifying the credentials of any physician you contact through this web page.
Partner with The RYR-1 Foundation by sponsoring The RYR-1 Foundation International Family Conference 2025 and/or 2025 RYR-1-Related Diseases Patient-Led International Research Workshop: Novel Perspectives, Treatments & Interventions!
Learn the latest in RYR-1-RD research, meet healthcare providers, researchers, and others, as well as share information with RYR-1-RD affected individuals and families and support the RYR-1-RD Community as a sponsor of the Family Conference and/or the Research Workshop.
The Research Workshop will be held July 22 – 23, 2025 and the Family Conference will be held immediately following from July 24 – July 27, 2025 at the Hyatt Regency Pittsburgh International Airport in Pittsburgh, Pennsylvania, United States.
Opportunities to sponsor the Family Conference and/or the Research Workshop begin at $1,000 and benefits, based on sponsorship level, range from recognition on social media to attending the Family Conference and/or Research Workshop in-person.
The RYR-1 Foundation is the only organization in the world focused solely on RYR-1-RD.
Watch for sponsorship information in newsletters, social media, and on the website. Sponsorship opportunities will be announced soon!
For more information contact Patricia Raffaele.
