Professor　SAITSU　Hirotomo

－Elucidating pathological mechanism of human disorders through identification of disease causing mutations－

Recent advances in technology caused paradigm shift in genetic analysis, and many disease causing genes have been identified, which are great clues for elucidating pathological mechanism of human disorders. However, there are still few studies analyzing pathological mechanism caused by identified mutations. In our laboratory, we aim to elucidate pathological mechanism of human disorders through establishing cell and mice models by CRISPR/Cas9 system based on identified disease causing mutations. Our current focus is genetic and functional analysis of neurodevelopmental disorders.