ゲノム技術の進歩とゲノム医療

In recent years, genome technology has made dramatic progress. Genome analysis technology began with the development of the Sanger method, and the advent of next-generation sequencers has made it possible to obtain vast amounts of genome information very rapidly. We have always explored for the causative genes of genetic diseases by the latest technologies. Identification of causative genes requires a large number of genome samples. To date, we have accumulated a huge number of genome samples, including 900 for amyotrophic lateral sclerosis（ALS）, 4,000 for spinocerebellar degeneration（SCD）, 750 for Parkinsonʼs disease, and 2,000 for dystonia. In order to efficiently identify the causative genes, we have also developed a genetic analysis method using single nucleotide polymorphisms. Utilizing these techniques, we have identified several causative genes as follows : OPTN and LRP12, causing ALS ; CACNA1G and HSD17B4, causing SCD ; and TWNK, causing Perrault syndrome. Furthermore, we have contributed to the elucidation of pathogenesis through functional analysis of these causative genes.
Clinical genomics is a medical field that provides services based on genome information. Clinical genomics is expected to be used not only for the diagnosis of rare diseases, but also for the development of new treatment methods, the selection of better therapeutic drugs, and lifestyle advice tailored to the individualʼs constitution. In addition, genomic research is being actively conducted not only on conventional monogenetic diseases, but also on polygenic diseases. The demand for clinical genomics is likely to increase further in the future. Tokushima University Hospital was one of the first hospitals in Japan to engage in clinical genomics, and in December 2022, the Department of Clinical Genetics was renamed the Clinical Genomics Center. We will continue to expand the functions of the Clinical Genomics Center in preparation for the coming era of personal genome.