Research

Research

Overview

The RYR-1 Foundation actively funds research in RYR-1-related diseases. This is done through a competitive grant review process.

The RYR-1 Foundation is currently funding over $850,000 of RYR-1 research, and since our inception, we have funded over $1.7 million in research.

The RYR-1 Foundation hosts Research Workshops and The RYR-1 Foundation Scientific Advisory Board meets on a biannual basis.

To download The RYR-1 Foundation’s Financial Conflict of Interest (FCOI) Policy, please click HERE.

2021 - 2022 Research Grants and Contracts

The RYR-1 Foundation is very excited to announce the recipients of 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-related diseases.

  • Heinz Jungbluth, MD, PhD, King’s College (England): The prevalence of RYR1-related disease – an international, collaborative multicentre study
  • 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”
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2020 - 2021 Research Grants

The RYR-1 Foundation is very excited to announce the 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-related research.

  • 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: “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: “Mitoquinol mesylate and n-3 polyunsaturated fatty acids: a novel therapeutic approach for RYR1-related myopathy”
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2017 - 2018 Research Grants

The RYR-1 Foundation is very excited to announce the 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, and RYR-1 protein structure.

  • 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: “RyR1 Myopathy Database”
  • William R. Lagor, PhD, Baylor College of Medicine: “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: Development of RYR-1 Mouse Models
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2015 - 2016 Research Grants

The RYR-1 Foundation is very excited to announce the recipients of the 2015 – 2016 research grants.

  • Alan Beggs, PhD, Harvard Medical School: “Drug Discovery for RYR-1 Myopathies Using Zebrafish Models”
  • Robert T. Dirksen, PhD, University of Rochester & James Dowling, MD, PhD, Hospital for Sick Children (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 (previously): “Rycal Treatment in RYR-1-Related Myopathy Muscle Biopsies”
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