Associate ProfessorJuntendo University, Graduate School of Medicine
Diagnostics and Therapeutics of Intractable Diseases
Intractable Disease Research Center
2-1-1, Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan
Dr. Atsuko Imai-Okazaki, M.D., Ph.D., M.P.H., a Division Head of Genomic Medicine Research at the Medical Genomics Center of National Center for Global Health and Medicine, obtained her M.D. degree from Kobe University in 2005 and subsequently received a Ph.D. degree in medicine from Osaka University and M.P.H. degree from University of Manchester in the UK. She is a cardiologist and a specialist in clinical genetics. Dr. Okazaki obtained the skills of bioinformatics, biostatistics, and statistical genetics at McGill University, Baylor College of Medicine, Harvard Medical School and Rockefeller University. She is also an adjunct professor at McGill University, a guest investigator at Rockefeller University, and an adjunct lecturer at Intractable Disease Research Center at Juntendo University.
By combining statistical genetics, clinical genetics and computer science, Dr. Okazaki developed a novel statistical method to prioritize sequence variants using Hamming distance (Sci Rep 2015). One of the clinical applications of her method is a mitochondrial disease cohort in Japan. Dr. Okazaki is in charge of genetic analysis of ~2400 mitochondrial disease patients. She has found causative mutations of mitochondrial diseases and assessed the relationship between long-term prognosis and genetic background of mitochondrial cardiomyopathy (Int J Cardiol 2016, J Human Genet 2016, Hum Mutat 2017, J Pediatr 2018, Int J Cardiol 2019, Human Mutat 2019).
- Kaimori, JY, Kikkawa, Y, Motooka, D, Namba-Hamano, T, Takuwa, A, Okazaki, A et al.. A heterozygous LAMA5 variant may contribute to slowly progressive, vinculin-enhanced familial FSGS and pulmonary defects. JCI Insight. 2022;7 (23):. doi: 10.1172/jci.insight.158378. PubMed PMID:36173685 PubMed Central PMC9746903.
- Ebihara, T, Nagatomo, T, Sugiyama, Y, Tsuruoka, T, Osone, Y, Shimura, M et al.. Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion. Mol Genet Metab Rep. 2022;33 :100912. doi: 10.1016/j.ymgmr.2022.100912. PubMed PMID:36061954 PubMed Central PMC9428837.
- Okazaki, A, Ott, J. Machine learning approaches to explore digenic inheritance. Trends Genet. 2022;38 (10):1013-1018. doi: 10.1016/j.tig.2022.04.009. PubMed PMID:35581032 .
- Miyake, W, Minemoto, M, Hayama, H, Yamamoto, M, Okazaki, T, Takano, K et al.. Case Report of Left Ventricular Noncompaction Cardiomyopathy Characterized by Undulating Phenotypes in Adult Patients. Int Heart J. 2021;62 (6):1420-1429. doi: 10.1536/ihj.21-283. PubMed PMID:34853230 .
- Okazaki, A, Horpaopan, S, Zhang, Q, Randesi, M, Ott, J. Genotype Pattern Mining for Pairs of Interacting Variants Underlying Digenic Traits. Genes (Basel). 2021;12 (8):. doi: 10.3390/genes12081160. PubMed PMID:34440333 PubMed Central PMC8391494.
- Kaimori, JY, Mori, T, Namba-Hamano, T, Morimoto, T, Takuwa, A, Motooka, D et al.. Cyclosporine A Treatment of Proteinuria in a New Case of MAFB-Associated Glomerulopathy without Extrarenal Involvement: A Case Report. Nephron. 2021;145 (4):445-450. doi: 10.1159/000516248. PubMed PMID:33975323 .
- Yamamoto, J, Yamamoto, M, Takano, K, Okazaki, T, Arakawa, R, Hara, H et al.. Venous thromboembolism is caused by prothrombin p.Arg541Trp mutation in Japanese individuals. Hum Genome Var. 2021;8 (1):13. doi: 10.1038/s41439-021-00145-x. PubMed PMID:33790279 PubMed Central PMC8012570.
- Okazaki, A, Yamazaki, S, Inoue, I, Ott, J. Population genetics: past, present, and future. Hum Genet. 2021;140 (2):231-240. doi: 10.1007/s00439-020-02208-5. PubMed PMID:32683493 PubMed Central PMC7368598.