Study of whole genome sequencing for the improvement of genomic medicine for rare diseases

Our project "Study of whole genome sequencing for the improvement of genomic medicine for rare diseases" is in charge of large-scale whole-genome analysis of patients with various rare diseases as part of Japan's efforts to realize and promote genomic medicine, and leading researchers in each disease field are participating as subgroups. The "Genome Infrastructure" group of the National Center for Global Health and Medicine (NCGM) will conduct whole-genome sequencing (WGS) of the samples collected and stored by these collaborators with the cooperation of many patients, and report the results to the collaborators. In addition to this whole genome data, the collaborating researchers will provide detailed clinical information and specialized analysis to identify unveiled disease-causing gene mutations where conventional methods could not find. The remaining patient samples after WGS will be stored in the Biobank for Rare Diseases, and the large-scale genomic data obtained will be stored in the Genome Data Center for Rare Diseases, and registered in a public database called CANNDs, which will enable researchers from pharmaceutical companies and academia to utilize the data. The results will contribute to more reliable diagnosis, selection of appropriate therapeutic medicines, and development of new therapeutic medicines.