From FY2016 to FY2017, we provided research support for RIKEN and 18outside researchers at a facility named Genome Network Analysis Support (GeNAS). Beginning in FY 2018, the Laboratory for Comprehensive Genomic Analysis (CGA) was formed. CGA not only took over some of the research and development missions from GeNAS, but also began to develop its own separate research activities.The CGA laboratory conducts omics analyses to elucidate the pathophysiol-ogy of human diseases. We do so in order to understand the mechanisms of diseases that disrupt the homeostatic function of various cells and tissues and to discover new drug targets. Specifically, we focus on the identification and characterization of novel causative genes for human hereditary disorders such as mitochondrial diseases, neurological diseases and other rare intractable dis-eases. As a part of a collaborative project aiming to identify causative variants in “rare diseases undiagnosed by exome sequencing”, we analyze such challeng-ing clinical cases with our genome/transcriptome technologies using long- and short-read sequencing. We also are trying to discover new potential drug tar-gets for the realization of personalized medicine in a high-throughput screen-ing system using zebrafish. In addition, we study the above described medical themes from the viewpoint of evolutionary biology. Finally, we also study the taste receptor system using single-cell analyses.Furthermore, we continue to contribute to collaborative research projects through the “IMS genome platform”. We provide our special genome and transcriptome analysis technologies, such as Cap Analysis of Gene Expression (CAGE) as well as single-cell RNAseq and single-cell ATAC-seq. Some of these essential technologies have been developed by us and we continuously strive to improve them and create new ones. We are working with several dozen col-laborators utilizing these technologies. We also are clarifying molecular mecha-nisms underlying direct reprogramming of fibroblasts into other distinctively differentiated cell types.Figure: Future plansWe will continue to apply omics and functional analy-ses to mitochondrial and neurological diseases, taste receptors, direct reprogramming, and other themes in molecular medicine and biology. In addition, we will continue technological development for genomic and transcriptomic analyses. We continue to utilize state-of-the-art technologies such as Nanopore and PacBio long-read sequencers, as well as high-quality short-read sequencers from Illumina and MGI, through the IMS genome platform, to solve biological/medical problems.Especially, because we recently are focusing on the development of single-cell technologies, we will apply these technologies to various unsolved important ques-tions in molecular medicine.Recent Major PublicationsOzaki K, Irioka T, Uchihara T, Yamada A, Nakamura A, Majima T, Igarashi S, Shintaku H, Yakeishi M, Tsuura Y, Okazaki Y, Ishikawa K, Yokota T. Neuropathology of SCA34 showing widespread oligodendroglial pathology with vacuolar white matter degeneration: a case study. Acta Neuropathol Commun 9, 172 (2021)Kishita Y, Shimura M, Kohda M, Fushimi T, Nitta KR, Yatsuka Y, Hirose S, Ideguchi H, Ohtake A, Murayama K, Okazaki Y. Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2. Hum Mutat 42, 1422-1428 (2021)Imai-Okazaki A, Matsunaga A, Yatsuka Y, Nitta KR, Kishita Y, Sugiura A, Sugiyama Y, Fushimi T, Shimura M, Ichimoto K, Tajika M, Tominaga M, Ebihara T, Mat-suhashi T, Tsuruoka T, Kohda M, Hirata T, Harashima H, Nojiri S, Takeda A, Nakaya A, Kogaki S, Sakata Y, Ohtake A, Murayama K, Okazaki Y. Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients. Int J Cardiol 341, 48-55 (2021)Invited presentationsOkazaki Y. “Genetic analyses of mitochondrial diseases and development to therapeutics” The 20th annual meeting of the Japanese Society of Mitochondrial Re-search and Medicine (Tokyo, Japan) December 2021Okazaki Y. “Research and Diagnosis of mitochondrial cardiomyopathy in Japan” Mitochondrial Medicine Work-shop Beijing 2021 (Beijing, China/Online) October 2021Okazaki Y. “Genetic diagnosis of mitochondrial diseases” 37th Japanese Pediatric Liver Disease Research Meeting (Chiba, Japan) June 2021Laboratory for Comprehensive Genomic AnalysisTeam Leader: Yasushi Okazaki
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