Adjunct Professor, Department of Human Genetics
Division Head, Genomic Medicine Research, Medical Genomics Center, National Center for Global Health and Medicine
Phone: (81)3-3202-7181 Ext.2458
National Center for Global Health and Medicine
1-21-1, Toyama, Shinjuku-ku, Tokyo, 162-8655, 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).
- Konukiewitz, B, Hornstein, MV, Jesinghaus, M, Steiger, K, Weichert, W, Detlefsen, S et al.. Pancreatic neuroendocrine tumors with somatostatin expression and paraganglioma-like features. Hum. Pathol. 2020; :. doi: 10.1016/j.humpath.2020.07.004. PubMed PMID:32668277 .
- Saito, Y, Nishikawa, A, Iida, A, Mori-Yoshimura, M, Oya, Y, Ishiyama, A et al.. ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features. Neurology. 2020; :. doi: 10.1212/WNL.0000000000010237. PubMed PMID:32646962 .
- Mitsuzuka, K, Togo, A, Kannno, Y, Narayama, T, Kashiwagi, H, Hayashi, M et al.. Monochorionic Diamniotic Twin Pregnancy; a Retrospective Study on Twintwin Transfusion Syndrome and Related Disorders. Tokai J. Exp. Clin. Med. 2020;45 (2):81-87. . PubMed PMID:32602106 .
- Ishida, H, Kasajima, A, Fujishima, F, Akaishi, R, Ueki, S, Yamazaki, Y et al.. p16 in highly malignant esophageal carcinomas: the correlation with clinicopathological factors and human papillomavirus infection. Virchows Arch. 2020; :. doi: 10.1007/s00428-020-02865-x. PubMed PMID:32556556 .
- Tachibana, T, Kasajima, A, Aoki, T, Tabata, T, McNamara, K, Yazdani, S et al.. Progesteron receptor expression in insulin producing cells of neuroendocrine neoplasms. J. Steroid Biochem. Mol. Biol. 2020;201 :105694. doi: 10.1016/j.jsbmb.2020.105694. PubMed PMID:32437964 .
- Kuriki, M, Sato, F, Arai, HN, Sogabe, M, Kaneko, M, Kiyonari, H et al.. Transient and lineage-restricted requirement of Ebf3 for sternum ossification. Development. 2020;147 (9):. doi: 10.1242/dev.186239. PubMed PMID:32398354 PubMed Central PMC7240299.
- Hasegawa, M, Uehara, A, Suzuki, T, Sekine, R, Yazawa, M, Ichikawa, D et al.. Nintedanib-induced glomerular microangiopathy: a case report. CEN Case Rep. 2020; :. doi: 10.1007/s13730-020-00474-w. PubMed PMID:32279192 .
- Shoji, M, Fujiwara, A, Onda, M. Creation and validation of a semi-quantitative instrument to assess the confidence of pharmacists in medication consultation for patients with depression: The pharmacists' confidence scale about medication consultation for depressive patients (PCMCD). Pharm Pract (Granada). ;17 (4):1628. doi: 10.18549/PharmPract.2019.4.1628. PubMed PMID:31897261 PubMed Central PMC6935550.
- Arai, HN, Sato, F, Yamamoto, T, Woltjen, K, Kiyonari, H, Yoshimoto, Y et al.. Metalloprotease-Dependent Attenuation of BMP Signaling Restricts Cardiac Neural Crest Cell Fate. Cell Rep. 2019;29 (3):603-616.e5. doi: 10.1016/j.celrep.2019.09.019. PubMed PMID:31618630 .
- Nishi, Y, Nomura, T, Murakami, M, Kawai, Y, Nishimura, M, Kondo, H et al.. Effect of denture adhesives on oral moisture: A multicenter randomized controlled trial. J Prosthodont Res. 2020;64 (3):281-288. doi: 10.1016/j.jpor.2019.08.004. PubMed PMID:31501069 .