Dr. Toshifumi (Toshi) Yokota, PhD, FCAHS holds the prestigious Friends of Garrett Cumming Research & Muscular Dystrophy Canada Endowed Research Chair at the University of Alberta, leading transformative research in genetic therapies. The research group led by Dr. Yokota, ranked #2 (top 0.01%) in the world for the research impact in muscular dystrophy and #4 (top 0.02%) in personalized medicine, is dedicated to advancing knowledge and developing treatments for muscular dystrophy and rare diseases. The goal of their research is to improve the lives of individuals affected by devastating genetic disorders through the use of cutting-edge therapeutics such as RNA-targeted therapies, CRISPR-mediated genome editing, and patient-customized n-of-1 antisense oligonucleotides. 

The research group is devoted to developing innovative therapeutics for rare diseases, with a specific focus on several devastating genetic disorders. These disorders include Duchenne/Becker muscular dystrophy (DMD/BMD), facioscapulohumeral muscular dystrophy (FSHD), spinal muscular atrophy (SMA), spinal and bulbar muscular atrophy (SBMA), giant axonal neuropathy (GAN),  fibrodysplasia ossificans progressiva (FOP), and dysferlin-deficient muscular dystrophy, which encompasses limb-girdle muscular dystrophy type 2B/R2 (LGMD2B/R2), Miyoshi myopathy, and distal myopathy with anterior tibial onset.

The goal of this project is to investigate the function of Aquaporin-4 (AQP4), a water channel specifically expressed in fast-twitch skeletal muscle fibres and the brain. Notably, AQP4 expression is significantly reduced in patients with muscular dystrophy. Despite its known presence in these tissues, the physiological role of AQP4 remains poorly understood. This project aims to elucidate the role of water channels in muscle and brain function through a detailed characterization of AQP4, thereby contributing to a better understanding of its physiological significance.

Last updated: 20 November, 2024