Center for Genomic Medicine, Kyoto University



NagahamaCohort NgsCourse Human Genetic Variation Database TOP_GLOBAL Rare Disease Data Registry of Japan The COVID-19 host genetics initiative

Past Projects


Last update: May 16, 2022

About Us

Recent progress in human genome research, highlighted by the completion of the nucleotide sequence of the human genome, enables analysis of biological function at a molecular level. In particular, advances in characterization of DNA variation have led to increasingly effective approaches to identify genetic determinants of many multifactorial diseases, providing new understanding of the pathogenesis of these conditions, diagnostics and potentially individual-based therapy (personalized medicine). In spite of a number of publications reporting the genes or polymorphisms responsible for various human multigenetic diseases, the area is still controversial; only a small number of genes were confirmed for their significance by independent reproduction studies or in other ethnicities. One of the important tools in this regard is the study of multiple ethnic populations to validate a gene-disease relationship through comparative analysis of linkage disequilibrium and disease-association patterns.

We focus on the identification of genes related to the onset and progression of human multigenetic diseases in a trans-ethnic way by an approach of a large-scale genotyping of single nucleotide polymorphisms in selected gene candidates rather than to undertake genome-wide random approaches. The principal components of the program have involved SNP identification of candidate genes of immune-related diseases, cancer and cardiovascular diseases using DNA samples from different ethnic origins and subsequent case/control study by SNP genotyping. The program also covers the construction of a comprehensive comparative SNP database of different multigenetic diseases that integrates genetic and clinical information, using new bioinformatics and statistical genetic tools.

From these studies we hope to establish a genome variation-based approach directly linked to clinical research and therapeutics in the disease areas under study.