- János Almássy, PhD, University of Debrecen (Hungary): “Functional and Pharmacological Characterization of the T4709M Mutant Ryanodine Receptor at Single-Channel Level”
- Alan Beggs, PhD, Harvard University (United States): “Drug Discovery for RYR-1 Myopathies Using Zebrafish Models”
- Razvan L. Cornea, PhD, University of Minnesota (United States): “High-Throughput Screens to Discover Novel Modulators of Dysfunctional RYR-1 Channels for Therapeutic Development”
- James Dowling, MD, PhD, University of Toronto (Canada): “Cas9-Mediated Point Mutagenesis of RYR-1”
- James Dowling, MD, PhD, University of Toronto (Canada) and Robert Dirksen, PhD, University of Rochster (United States): “Drug Discovery and Validation for RYR-1-Related Myopathies”
- Angela Dulhunty, MD, PhD, Australian National University (Australia): “Developing Animal Models with an RYR-1 Mutation and Clinical Phenotype for the Purpose of Evaluating Cell and Molecular Mechanisms of RYR-1 Disease”
- Heinz Jungbluth, MD, PhD, King’s College (England): The prevalence of RYR1-related disease – an international, collaborative multicentre study
- Alexander Kushnir, MD, PhD, Columbia University (United States): “RYR-1 Myopathy Database”
- William R. Lagor, PhD, Baylor College of Medicine (United States): “Targeted Removal of Pathogenic RYR-1 Alleles”
- Jocelyn Laporte, PhD, Institute of Genetics and Molecular and Cellular Biology (France): “Therapeutic proof-of-concepts for RYR1-related myopathy”
|
|
- Bradley S. Launikonis, PhD, The University of Queensland (Australia): “Assessment of the Ability of Small Molecule RYR-1 Modulators to Correct the Ca2+ Fluxes in Skeletal Muscle Fibers with RYR-1 Myopathy”
- Andrew Marks, MD, Columbia University (United States) and Katherine Meilleur, PhD, CRNP, National Institutes of Health (United States): “Rycal Treatment in RYR-1-Related Myopathy Muscle Biopsies”
- Vincenzo Sorrentino, MD, University of Siena (Italy): “Endoplasmic Reticulum Stress in Skeletal Muscles of Patients with Central Core Disease and other RYR-1-Related Myopathies: A Potential Mechanism of Disease and a Druggable Target”
- Joshua J. Todd, PhD, CCRP, NIH (United States): “Mitoquinol Mesylate and N-3 Polyunsaturated Fatty Acids: A Novel Therapeutic Approach for RYR-1-Related Myopathy”
- Jacques Tremblay, PhD, Laval University (Canada): “PRIME editing correction of the T4709M mutation responsible for some cases of Ryanodine receptor type 1 (RYR1) related myopathies (RYR1 RM)”
- Susan Treves, PhD, and Francesco Zorzato, MD, PhD, University of Basel (Switzerland): “Treatment of an animal model carrying recessive RYR1 mutations with HDAC/DNA methyltransferase inhibitors”
- Filip Van Petegem, PhD, University of British Columbia (Canada): “Structural Investigation of Disease-Associated Mutations in the Ryanodine Receptor Pore and EF Hand Region”
- Nicol Voermans, MD, PhD, Radboud University (The Netherlands): “A hot debate: the role of RYR1 in exertional heat-illnesses”
|
