With the recent advances of genetic and chromosome testing methodologies, we became able to pinpoint genetics/chromosomal changes, causing developmental delay or intellectual disability. However, it remains to be determined how these genetic or chromosomal changes lead to clinical symptoms. Due to the lack of mechanistic understanding, there are no diagnosis specific treatments available in the vast majority of neurodevelopmental genetic disorders.
In the Izumi Lab, with the ultimate goal of identifying druggable molecules/pathways in neurodevelopmental genetic disorders, we investigate the molecular mechanisms of pediatric neurodevelopmental disorders due to chromatin protein mutations and chromosomal abnormalities. We employ novel genetic approaches by using patient-derived samples, induced pluripotent stem cell models and mutant mouse models.