“This exciting and timely research builds upon seed funding provided by The RYR-1 Foundation to develop a clinical and research dataset for RYR1-related disorders,” said Michael Goldberg, MD, MPH, President of The RYR-1 Foundation. “I am proud that The RYR-1 Foundation, led by our SAB, recognized the importance of this kind of database, and I am grateful for Dr. Todd’s tremendous efforts on this project.”
A research project that received seed funding from The RYR-1 Foundation was presented at the Muscular Dystrophy Association (MDA) Annual Conference in Dallas, Texas, March 19-22, 2023.
Joshua J. Todd, PhD, Staff Scientist (Clinical) at the National Institute of Neurological Disorders and Stroke (NIH), was selected to present the RYR1 database project in the “New, Novel, and Noteworthy: Neuromuscular Disease Highlights” session at the MDA conference.
The unmet need for a centralized RYR1 data resource was identified at a 2016 ENMC meeting1.
In 2017, the RYR1 database project was initiated with seed funding provided by The RYR-1 Foundation to Alexander Kushnir, MD, PhD, at Columbia University Medical Center (Dr. Andrew Marks’ team). Since 2019, continuation of data curation and database development has been spearheaded by the U.S. National Institutes of Health Intramural Program (National Institute of Neurological Disorders and Stroke and National Institute of Nursing Research). At the 2022 RYR-1 Related Diseases International Research Workshop, the RYR1 database project was named as a research priority for the field2.
The overall goal of the RYR1 database project is to launch a comprehensive, publicly-available online database to support clinical trial readiness, facilitate collaboration, and enhance understanding of RYR1-related disorders for patients, researchers, and medical professionals.
“Several factors contribute to the complexity of RYR1-related disorders, including numerous variants of uncertain significance, a large yet intricate macromolecular protein complex, and wide clinical heterogeneity which results in diagnostic and research challenges,” said Dr. Todd. “Centralizing nonclinical and clinical data elements in a publicly available online platform will promote awareness and understanding of RYR1-related disorders, support clinical trial readiness, and open new avenues of research. To date we have curated published genotype-phenotype data on over 2500 patients and curated more than 250 unique variants across 16 animal and cellular model systems3,4. Thus, we have established a cross-sector collaborative framework to advance the RYR1 database project and are grateful to The RYR-1 Foundation Scientific Advisory Board for their continued guidance and MDA for highlighting our work at their 2023 Annual Conference.”
“This exciting and timely research builds upon seed funding provided by The RYR-1 Foundation to develop a clinical and research dataset for RYR1-related disorders,” said Michael Goldberg, MD, MPH, President of The RYR-1 Foundation. “I am proud that The RYR-1 Foundation, led by our SAB, recognized the importance of this kind of database, and I am grateful for Dr. Todd’s tremendous efforts on this project.”
About The RYR-1 Foundation
The Pittsburgh, Pennsylvania-based 501(c)(3) public charity was launched in October 2014 by members of the Goldberg family, who have been affected by an RYR1-related disease. It is currently the only organization that exists solely to advocate for and serve the needs of patients with RYR-1 myopathy, the most common cause of congenital myopathy. The mission of The RYR-1 Foundation is to support research leading to effective treatment or a cure for RYR1-related diseases, to educate physicians about these diseases, and to provide patient/family support and advocacy. To learn more about The RYR-1 Foundation, please visit: www.ryr1.org.
About the Muscular Dystrophy Association Annual Conference
MDA is the #1 voluntary health organization in the United States for people living with muscular dystrophy, ALS, and related neuromuscular diseases. The Conference explores all aspects of pre-clinical, translational, and clinical research and care across neuromuscular diseases. To learn more about the conference, please visit: www.mdaconference.org.
References
1 Jungbluth H, Dowling JJ, Ferreiro A, Muntoni F. 217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29-31 January 2016. Neuromuscul Disord. Sep 2016;26(9):624-33. doi:10.1016/j.nmd.2016.06.001
2 O’Connor TN, van den Bersselaar LR, Chen YS, et al. RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022. J Neuromuscul Dis. 2023;10(1):135-154. doi:10.3233/jnd-221609
3 Lawal TA, Wires ES, Terry NL, Dowling JJ, Todd JJ. Preclinical model systems of ryanodine receptor 1- related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990–2019. Orphanet Journal of Rare Diseases. 2020/05/07 2020;15(1):113. doi:10.1186/s13023-020-01384-x
4 Kushnir A, Todd JJ, Witherspoon JW, et al. Intracellular calcium leak as a therapeutic target for RYR1-related myopathies. Acta Neuropathol. Jun 2020;139(6):1089-1104. doi:10.1007/s00401-020-02150-w
