Genetics and Cell Biology

Prof. Shinya Matsuura

【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).

【Department of Genetics and Cell Biology】 

Name Title
Shinya Matsuura Professor
Silvia Natsuko Akutsu Assistant Professor


We give a lecture on human genetics to medical students, a lecture on integrated radiation medical science to postgraduate students, and a lecture to phoenix leading program students.

The purpose of our research group is to identify underlying genes for rare genetic disorders and to elucidate their functions. Following research projects are being carried out.
1.Molecular mechanism of carcinogenesis due to chromosome instability.
2.Molecular and cellular basis of primary microcephaly.
3.Molecular and cellular basis of human ciliopathy.
4.Identification of genetic factors responsible for individual differences in radiosensitivity.