【Research Keyword】
Medical genetics, Chromosome maintenance, Radiosensitivity, Primary cilia, Genome editing, Primary microcephaly
【Recent highlights】
We have elucidated the pathogenesis of primary microcephaly (Hum Mol Genet 2017), identified the genetic factor that determines individual differences in radiation sensitivity (Scientific Reports 2017), and identified the causative gene for premature aging syndrome (Aging Cell 2020). We have also uncovered a novel pathway by which peroxisomes transport cholesterol (EMBO J 2020).