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With the rapid progress in genome analysis technology, there are growing expectations for genomic medical research, which uses genomic information to identify the causes of disease, and genomic medicine, which develops therapeutic and preventive methods on the basis of genomic information. National genome analysis centers established in Europe, the US, and some Asian countries are already conducting whole-genome analysis research on a large scale, ranging from several tens of thousands to millions of people. In Japan, a plan for large-scale whole-genome analysis was formulated in 2019, and the three major projects related to (1) cancer, (2) rare diseases, and (3) control groups are being implemented. These projects will play mutually complementary roles to further advance genome medical research and genomic medicine.
The Japan Leading Project for Rare Disease Whole-Genome Sequencing (RDWGS), which will create the infrastructure for (2) genome analysis of rare diseases, commenced in November 2020. This project aims to carry out whole-genome analysis on a large scale, and also to establish genome analysis infrastructure that can be readily utilized by the research community. The project brings together leading Japanese researchers from fields such as rare disease medicine, biobank management, genome analysis, data infrastructure construction, and data provision. As yet unanalyzed patient genome samples that have already been collected and stored by researchers in the field of rare disease medicine will be aggregated for large-scale whole-genome sequencing analysis. The data obtained will not only be reported to researchers within the project, but also be stored in a newly-constructed genome database and will be available for use by researchers outside the project as well. The project also aims to store some of the remaining samples in a biobank for future use.
This project will enable researchers specializing in various areas to utilize large-scale genomic data and valuable samples, which will lead to developments in genome research into rare diseases as well as advances in genomic medicine and precision medicine for rare diseases. The integration of genome information and medical informatics will also contribute to the development of new therapeutics and treatment methods. In addition, the genome analysis team of this project is already in charge of some of the work for major project (3), the control groups, thus enabling efficient collaboration within the overall whole-genome sequencing analysis plan.
This leading project will be completed by March 2023 and will move to a full-fledged project, which will work with a view toward stable, long-term operation of the genome analysis infrastructure. I would like to ask for the guidance and support of researchers and of the public at large.
