Division of Gene Structure and Function Division of Gene Regulation and Signal Transduction
Division of Developmental Biology Division of Pathophysiogy
Division of Functional Genomics & Systems Medicine Division of Gene Therapy and Genome Editing
Division of Translational Research  
Division of Translational Research
Summary Research Summary

In Division of Translational Research, we actively conduct "the translational research" that serves as a bridge between basic research and clinical application through medical research for the human genome. As our methods for genomic research, DNA microarray analysis that can detect the millions of single nucleotide polymorphisms (SNPs) and copy number polymorphisms (CNVs) in the human genome, whole-genome/exome analysis by massively parallel high-speed sequencer, and integration analysis with bioinformatics techniques, are mainly used. Using the results of the vast amount of omics information (genome, transcriptome, proteome, etc.) obtained from close collaboration with clinicians and the results of basic research about genetic diseases, we are further trying to elucidate the mechanism of unknown diseases and aiming to apply it to novel diagnostic criteria and therapeutic treatment.


Figure 1.



Staff Staff
Professor Akihiko Okuda
Instructor Yutaka Nakachi
Technician Satomi Suzuki
Project Technician Tomoko Hirata
Project Technical Assistant Eriko Sugita
Visiting Professor Yasushi Okazaki
Collaborative Researcher Yumi Mizuno, Yumiko Kawata, Yukiko Teramoto,
Aya Saitoh, Fumiyo Fukui, Azusa Yamamoto
Projects Research Projects

Gene hunting for unknown hereditary diseases in close collaboration with clinicians, investigation of new drug-targets for metabolic diseases, and research of diversity and genetic variation in human.

Mitochondrial diseases (Department of Pediatrics, Saitama Medical University)
Hereditary gastrointestinal cancer syndrome (Department of Digestive Tract and General Surgery, Saitama Medical University)
Peroxisomal disease (Department of Gynecology, Saitama Medical University)
Gender Dysphoria (Gender Identity Disorder) (Department of Neuropsychiatry, Osaka Medical College)
Publications Selected Publications
Suzuki O et al. Prevalence and clinicopathologic/molecular characteristics of mismatch repair-deficient colorectal cancer in the under-50-year-old Japanese population. Surg Today, advanced online (2017).
Borna NN et al. A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy. J Hum Genet, 62(5):539-547 (2017).
Imai A et al. HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families. J Hum Genet, 61(11):959-963 (2016).
Imai A et al. Dried blood spots for newborn screening allows easy determination of a high heteroplasmy rate in severe infantile cardiomyopathy. Int J Cardiol, 221:446-449 (2016).
Kohda M, Kumamoto K, Eguchi H, Hirata T, Tada Y, Tanakaya K, Akagi K, Takenoshita S, Iwama T, Ishida H, Okazaki Y. Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies. Fam Cancer, 15(4):553-562 (2016).
Imai A et al. Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein. Int J Cardiol, 207:203-205 (2016).
Iseki H, et al. Combined Overexpression of JARID2, PRDM14, ESRRB, and SALL4A Dramatically Improves Efficiency and Kinetics of Reprogramming to Induced Pluripotent Stem Cells. Stem Cells, 34(2):322-333 (2016).
Kohda M, Tokuzawa Y, Kishita Y, et al. A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. PLoS Genet, 12(1):e1005679 (2016).
Kishita Y, Pajak A, et al. Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26. Am J Hum Genet, 97(5):761-768 (2015).
Nakachi Y et al. Gene expression profile of the neonatal female mouse brain after administration of testosterone propionate. J Sex Med, 12(4):887-896 (2015).
  [More publications in detail (PDF)]
TOP > Division of Translational Research