Department of Genome Medicine

Established in April 2015, our new department aims to identify disease-causing or disease-associated genes and reveal pathological mechanisms for rare diseases of unknown cause using advanced technologies and systems in genomics, and to apply those research outcomes to clinical use through translational research. The overarching goal of our department is to achieve predictive, preventive and personalized medicine in pediatric diseases through basic and translational research using various genetic and genomic approaches.

The department consists of the Division of Pediatric Disease Genomics and the Division of Clinical Applied Genomics. Both divisions together promote genomic research and clinical applications for genetic diseases in cooperation with all departments and sections of the NCCHD.

Our research targets are genetic or genome-related diseases, especially rare diseases, in pediatric and perinatal medicine. First, it is important to find causative genes for such diseases. Although more than 7,000 genetic diseases are recognized, the responsible genes of approximately half of these diseases are yet to be identified. Recent advances in genome analysis and innovative stem-cell engineering, such as the next-generation sequencer and iPS cells, are playing a crucial role in uncovering the causes of rare diseases year by year.
We identify responsible genes and reveal the mechanisms of unknown rare diseases through innovative genomic approaches and collaborative research with the NCCHD hospital and external medical partners. We facilitate molecular and clinical diagnostics of genetic diseases through translational research, and also contribute to the development of the mutation and variation database for the Japanese population through our genomic research. In addition, as part of Japan's Medical Genome Center, our department works together with the NCCHD Biobank to translate our research findings into clinical application and practice.
We always welcome discussion and collaboration with other research groups in the life sciences or medical genomics to further advance genomic research and clinical applications for geneticdiseases.