Our laboratory's research projects

Understanding the molecular basis and establishing therapeutic strategies of muscular dystrophy

Muscular dystrophy is a monogenic disorder and currently no effective treatment is available. Aiming at translational research and clinical testing, we are trying to understand the molecular pathogenesis and develop therapeutic strategies for muscular dystrophy from various aspects such as molecular genetics, cell biology, glycobiology, and so on. We also start therapeutic studies using disease models at laboratory level (therapeutic oligonucleotide and gene transfer). Recently, we revealed the disease mechanism of Fukuyama muscular dystrophy and propose a novel and promising therapeutic way for this severe disease.

Neurodegenerative disorders – mainly focused on Parkinson’s disease and Alzheimer disease

Our ultimate goals are to identify responsible/susceptibility genes and to establish a tailor-made therapy for neurodegenerative disorders such as Parkinson’s disease and Alzheimer disease. Currently, we are challenging to identify genes associated with Parkinson’s disease using state-of-the-art genomics (new generation sequencer etc). We also try to understand the relation between gene function and pathology using specimen and/or other disease models in order to reveal disease mechanism and develop therapies.

Genes related to higher brain function

What are key molecules responsible for human’s higher brain function such as intelligence and language? To answer this question, we are studying from various genetic approaches (gene expression, epigenetics, polymorphism, etc). Especially, we want to find genes responsible for mental retardation and general cognitive ability (g factor), in addition, environmental factors affecting on them.

Key words :
Muscular dystrophy, Parkinson’s disease, neurodegenerative disorders, cognition and genes, human genome, disease gene, molecular genomics, disease-models