RYR-1-RD Research

The RYR-1 Foundation is excited to announce the recipients of the 2025 – 2027 research grants, which represent a total commitment of $480,000 in research funding. These grants are focusing on ground breaking gene therapies and innovated strategies to better understand mechanisms of RYR-1-RD.

• Selene Ingusci, PhD, University of Pittsburgh (Pittsburgh, USA): “Treatment of mouse models of RYR-1 myopathy using HSV-1 replication-defective vectors for durable, safe expression of the full-length RYR-1 cDNA”
• Afrooz Rashnonejad, MSc, PhD, The Ohio State University College of Medicine (Columbus, USA): “Evaluating two strategies for restoring RYR-1 protein expression”
• Hichem Tasfaout, PhD, PharmD, MS, University of Washington (Seattle, USA): “Expression of full-length RYR1 using split inteins and myotropic AAVs”
• Francesco Saverio Tedesco, MD, PhD, University College London (England):  “Advanced modelling of RYR1-related myopathies using 3D bioengineered human skeletal muscles”

The RYR-1 Foundation’s recipient of the 2024 – 2026 research grant. This grant focuses on the prevalence of RYR-1-RD.

• Heinz Jungbluth, MD, PhD, King’s College (England): “The prevalence of RYR1-related disease – an international, collaborative multicentre study”

The RYR-1 Foundation’s recipients of the 2021 – 2022 research grants and research contracts. These grants and contracts represent a commitment of over $400,000 of research funding. The awardees seek to apply cutting-edge, innovative therapeutic techniques to RYR-1-RD and manifestations of exertional heat-illness in RYR-1-RD.

• Jocelyn Laporte, PhD, Institute of Genetics and Molecular and Cellular Biology (France): “Therapeutic proof-of-concepts for RYR1-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”
• Nicol Voermans, MD, PhD, Radboud University (The Netherlands): “A hot debate: the role of RYR1 in exertional heat-illnesses”

The RYR-1 Foundation’s recipients of the 2020 – 2021 research grants. These grants represent a commitment of over $450,000 of research funding. The awardees represent leaders from around the world in the field of RYR-1-RD focusing on drug discovery.

• János Almássy, PhD, University of Debrecen (Hungary): “Functional and pharmacological characterization of the T4709M mutant ryanodine receptor at single-channel level”
• Razvan, Cornea, PhD, University of Minnesota (Minneapolis, USA): “High-Throughput Screens to Discover Novel Modulators of Dysfunctional RyR1 Channels for Therapeutic Development”
• ​Bradley Launikonis, PhD, The University of Queensland (Australia): “Assessment of the ability of small molecule RyR modulators to correct the Ca2+ fluxes in skeletal muscle fibers with RyR myopathy”
• Vincenzo Sorrentino, MD, University of Siena (Italy): ”Endoplasmic Reticulum stress in skeletal muscles of patients with Central Core Disease and other RYR1-related myopathies: a potential mechanism of disease and a druggable target”
• Joshua Todd, PhD, CCRP, National Institute of Nursing Research (Bethesda, USA): “Mitoquinol mesylate and n-3 polyunsaturated fatty acids: a novel therapeutic approach for RYR1-related myopathy”

The RYR-1 Foundation’s recipients of the 2017 – 2018 research grants. These grants represent a commitment of over $500,000 of research funding. The awardees represent leaders in the fields of CRISPR/gene editing, muscle functioning, RyR1 protein structure, and the creation of a RYR1 moderately, affected mouse model.

• 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”
• Alexander Kushnir, MD, PhD, Columbia University (New York City, USA): “RyR1 Myopathy Database”
• William R. Lagor, PhD, Baylor College of Medicine (Houston, USA): “Targeted Removal of Pathogenic RYR1 Alleles”
• Filip Van Petegem, PhD, University of British Columbia (Canada): “Structural Investigation of Disease-Associated Mutations in the Ryanodine Receptor Pore and EF Hand Region”
• inGenious Targeting Laboratory (Holbrook, USA): Development of RYR-1 Mouse Models

The RYR-1 Foundation’s recipients of the 2015 – 2016 research grants.

• Alan Beggs, PhD, Harvard Medical School (Boston, USA): “Drug Discovery for RYR-1 Myopathies Using Zebrafish Models”
• Robert T. Dirksen, PhD, University of Rochester & James Dowling, MD, PhD, Hospital for Sick Children (Rochester, USA & Canada): “Drug Discovery and Validation for RYR-1-Related Myopathies”
• James Dowling, MD, PhD, Hospital for Sick Children (Canada): “Cas9-Mediated Point Mutagenesis of RYR-1”
• Andrew R. Marks, MD, Columbia University & Katy Meilleur, PhD, CRNP, National Institute of Nursing Research (New York City & Bethesda, USA): “Rycal Treatment in RYR-1-Related Myopathy Muscle Biopsies”