Staff
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ProfessorTakanobu OtomoTakanobu Otomo
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Assistant Professor with Special AssignmentSeigou TerawakiSeigou Terawaki
Research fields and main research themes
Lysosomes are acidic organelles responsible for the intracellular degradation system. Various inherited lysosomal storage diseases (LSD) are caused by genetic abnormalities of more than 50 kinds of lysosomal enzymes. However, the pathophysiological mechanisms of the LSD caused by the dysfunction of lysosomes at the cellular, organ, and whole-body levels, are not fully elucidated. Also, recently, new diseases have been discovered one after another by exome analysis using next-generation sequencing. We are engaged in research to clarify the molecular mechanisms of these genetic disorders and to link them to therapeutic methods.
Our current research focuses on the following:
- Pathomechanisms of LSD
- Relationship between intracellular vesicular trafficking, lysosomal degradative functions, and disease
- Function of genes/mutations identified by whole-exome sequencing of undiagnosed patients
In these above projects, we are performing comparative and comprehensive analyses on many LSD or diseases of intracellular vesicular trafficking using a library of knock-out cells of lysosomal genes prepared in our laboratory. In collaboration with IRUD (Initiative on Rare and Undiagnosed Diseases) project by AMED (Japan Agency for Medical Research and Development), we are analyzing how genetic alterations affect the normal function of molecules, leading to genetic disease.
We are now accepting foreign researchers under the Japanese government fellowships program of the Japan Society for the Promotion of Science (JSPS) and Ministry of Education, Culture, Sports, Science and Technology (MEXT). We are also conducting joint research with several institutions in Japan and overseas, as well as with the departments of pediatrics and clinical genetics within our institution. Besides, we offer a doctoral program (Molecular and Cellular Regulation; in the field of Biochemistry) in the graduate school of medicine at our school.