1. Gene-Hunting responsible for disease by various methods
The purpose is to identify the genes responsible for hereditary disorders (monogenic disorders).  We believe that the identification of the disease gene is just a starting point but for everything including diagnoses and treatment. This project is the base for our other projects, and the concept and methodological aspect derived from this project is applied to other project. We are now focusing the gene-hunting using next generation sequencer (NGS).
2. Functional analyses of the gene related to disease and cell biology
The gene identification itself does not make sense for the patients except for as a diagnostic tool. It is important to identify how the mutation stresses the cells, tissues and a whole body in detail. We will be able to find the way to treat the genetic disease or to relieve symptoms after the identification such a functional disturbance in cells.  We are looking forward to developing the way to intervention method and treatment based on the gene function.
3.Search for mechanism of disease variety in single gene and polygenic disorders
Disease(s) have wide variety symptoms even in the distinctive single gene disease named “bla bla bla” syndrome. In our department, we have started to uncover the relation epigenetic signature and disease expression, because we assume these variety could be developed by epigenetic modification of genome in addition to genetic mutations and polymorphisms.
4. Development of the quantification method to evaluate the irradiation effect
It is likely that the effect of irradiation finally incuse at the genome as the base alterations. We speculate that the evaluation of the genomic change could be applied the quantification of the biological dosimetric method of irradiation, and are developing the methods.
5. Uncover the mechanisms to induce gene mutation and genomic instability
If the irradiation finally results in the genomic alterations, the mechanisms of incusing the change should be uncover. It is likely that the irradiation has effects including direct attack to DNAs and protein, induction of genomic instability, epigenetic change, oxidative stress to cells and so on. We would like to uncover the mechanisms and process resulting genomic and epigenetic change evaluating the genetic change.