The RYR-1 Foundation Participates in Major Conference
Press Release
For Immediate Release
December 8, 2024
Contact: Patricia Raffaele, M.A. CAE
724/986-8288
The RYR-1 Foundation Participates in Major Conference
PITTSBURGH, PA– The RYR-1 Foundation participated in the Breakthroughs in Muscular Dystrophy Conference presented by the American Society of Gene and Cell Therapy (ASGCT) and the Muscular Dystrophy Association (MDA). The annual event was held last month in Chicago, Ill.
“This meeting was a unique opportunity to learn about the latest scientific developments in the field of neuromuscular disease,” said Chair, Board of Directors and Research Co-Chair for The RYR-1 Foundation, Michael Goldberg, M.D., M.P.H. Dr. Goldberg, affected by an RYR-1-RD, attended the Conference with his wife and the organization’s Executive Director and Patient Liaison, Lindsay Goldberg, B.S.N., R.N.
The event brings together leading researchers and clinicians from the neuromuscular disease community to explore cutting-edge gene and cell therapies and technologies for muscular dystrophy. At this meeting, there were numerous presentations on therapeutic strategies for a range of genetic muscle diseases. Many of these strategies potentially can be employed to treat RYR-1-RD.
Two members of The RYR-1 Foundation’s Scientific Advisory Board (SAB) were engaged in the Conference. Carsten G. Bönnemann, M.D., habil, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), presented a keynote address on Clinical Aspects of Gene Therapies for Muscular Dystrophies-Challenges and Opportunities. He also served as a member of the Conference Organizing Committee.
Isabelle Marty, Ph.D., also a member of the SAB, presented a poster entitled Functional Benefit of CRISPR/Cas9-Induced Deletion for RYR-1 Dominant Mutation. She is the Research Director at the Institut National de la Santé et de la Recherche Médicale, the French NIH.
Alan Beggs, Ph.D., also attended the Conference and was the recipient of a research grant from The RYR-1 Foundation focused on Drug Discovery for RYR-1 Myopathies Using Zebrafish Models.
“This conference gave us the opportunity to network with researchers and clinicians in academia and in the biotech industry,” said Lindsay Goldberg. “The opportunity for researchers and clinicians to exchange ideas and information in person is invaluable.” The RYR-1 Foundation hosted a dinner with Drs. Bönnemann, Marty, and Beggs.
Also participating in the dinner were Vice President of Research for the MDA, Angela Lek, Ph.D., and her husband, Assistant Professor of Genetics at Yale University School of Medicine, Monkol Lek, Ph.D. He is also the leader of the Lek Lab and Dr. Angela Lek served on the Conference Organizing Committee.
RYR-1-RD are forms of muscle disease resulting in a wide range of symptoms, including muscle weakness, a potentially fatal reaction to general anesthesia (malignant hyperthermia), and severe muscle breakdown (rhabdomyolysis), among others. Individuals are born with RYR-1-RD due to variants (mutations) in the RYR1 gene. Variants in the RYR1 gene are the most common cause of congenital muscle disease.
The RYR-1 Foundation, headquartered in Pittsburgh, PA, supports families and those affected by RYR-1-RD; works with leading researchers around the world; and supports the medical community. To date, the organization has provided more than $1.5 million in funded research grants.
