Toshifumi Yokota

Dr. Toshifumi Yokota


Professor of Medical Genetics and The Friends of Garrett Cumming Research & Muscular Dystrophy Canada Endowed Research Chair at the University of Alberta Faculty of Medicine and Dentistry

NMD4C Involvement: Pillar 1: Preclinical Science

Email Toshifumi

Research Interests: RNA-targeted Therapy, Antisense Oligonucleotide, Nucleic Acid Therapeutics, Personalized Genetic Medicine, Genome Editing, Muscular Dystrophy, Neuromuscular Diseases, Musculoskeletal Diseases

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Dr. Toshifumi (Toshi) Yokota is a highly accomplished Professor of Medical Genetics at the University of Alberta and holds the prestigious Friends of Garrett Cumming Research & Muscular Dystrophy Canada Endowed Research Chair. With a Ph.D. from the University of Tokyo, Dr. Yokota previously worked as a JSPS Research Fellow at Imperial College London and a Research Associate at the Children’s National Medical Center in Washington DC before joining the University of Alberta. 
Dr. Yokota’s pioneering research has led to significant advancements in the treatment of muscular dystrophy. The study, which was the first of its kind, demonstrated that a cocktail of novel antisense oligonucleotides can restore gene function and improve muscle strength in a severe animal model of Duchenne muscular dystrophy (DMD) by modulating the splicing of gene transcripts called mRNA. This research directly led to a collaboration with a pharmaceutical company and the development of viltolarsen, an FDA-approved antisense oligonucleotide drug for the treatment of DMD, which was approved by the FDA in 2020 after clinical trials showing significant improvements in muscle function conducted in Japan, Canada, and the United States. 
More recently, Dr. Yokota and the research team at the University of Alberta employed an approach using synthetic DNA-like molecules called gapmers to interfere with the production of a toxic protein that destroys the muscles in facioscapulohumeral muscular dystrophy (FSHD), the third most common form of muscular dystrophy. This treatment was able to knock down more than 99 percent of the toxic gene products called DUX4 in patient-derived cells, resulting in morphological and functional improvement. 
Dr. Yokota has received numerous career awards, including the JSPS Young Scholar Award, NIH Ruth L. Kirschstein National Research Service Award, and BioAlberta Scientific Achievement and Innovation Award, has published over 100 papers, edited 3 books, and served as a board member for numerous journals and organizations. 

Recent Publications

Lim, KRQ, Yokota, T. Knocking Down DUX4 in Immortalized Facioscapulohumeral Muscular Dystrophy Patient-Derived Muscle Cells. Methods Mol Biol. 2023.2587 197-208 PMID:36401032

Anwar, S, Yokota, T. Morpholino-Mediated Exons 28-29 Skipping of Dysferlin and Characterization of Multiexon-skipped Dysferlin using RT-PCR, Immunoblotting, and Membrane Wounding Assay. Methods Mol Biol. 2023.2587 183-196 PMID:36401031

Shah, MNA, Yokota, T. Restoring Dystrophin Expression by Skipping Exons 6 and 8 in Neonatal Dystrophic Dogs. Methods Mol Biol. 2023.2587 107-124 PMID:36401026

Anwar, S, Yokota, T. Rapid Freezing of Skeletal and Cardiac Muscles Using Isopentane Cooled with Liquid Nitrogen and Tragacanth Gum for Histological, Genetic, and Protein Expression Studies. Methods Mol Biol. 2023.2587 45-53 PMID:36401023

Lim, KRQ, Yokota, T. Current Strategies of Muscular Dystrophy Therapeutics: An Overview. Methods Mol Biol. 2023.2587 3-30 PMID:36401021

Lim, KRQ, Woo, S, Melo, D, Huang, Y, Dzierlega, K, Shah, MNA et al.. Development of DG9 peptide-conjugated single- and multi-exon skipping therapies for the treatment of Duchenne muscular dystrophy. Proc Natl Acad Sci U S A. 2022.119 (9) PMID:35193974

Sheikh, O, Yokota, T. Pharmacology and toxicology of eteplirsen and SRP-5051 for DMD exon 51 skipping: an update. Arch Toxicol. 2022.96 (1)1-9 PMID:34797383

Sheikh, O, Yokota, T. Restoring Protein Expression in Neuromuscular Conditions: A Review Assessing the Current State of Exon Skipping/Inclusion and Gene Therapies for Duchenne Muscular Dystrophy and Spinal Muscular Atrophy. BioDrugs. 2021.35 (4)389-399 PMID:34097287

Lim, KRQ, Bittel, A, Maruyama, R, Echigoya, Y, Nguyen, Q, Huang, Y et al.. DUX4 Transcript Knockdown with Antisense 2'-O-Methoxyethyl Gapmers for the Treatment of Facioscapulohumeral Muscular Dystrophy. Mol Ther. 2021.29 (2)848-858 PMID:33068777

Lim, KRQ, Nguyen, Q, Yokota, T. Detection of Locked Nucleic Acid Gapmers from Mouse Muscle Samples Using ELISA. Methods Mol Biol. 2020.2176 233-239 PMID:32865795

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