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Department of Human Genetics
Research Topic
Over 9,000 monogenic diseases (Mendelian diseases) have been registered in OMIM (https://www.omim.org/). For more than 3,000 of these diseases, the responsible genes have not been identified. The small number of patients with these rare diseases makes this research particularly difficult to establish diagnostic and therapeutic methods.
The aims of our research is to identify novel responsible genes for human monogenic diseases for which genetic factors have not been identified and to elucidate the pathogenic mechanisms of these diseases. Furthermore, we want to contribute to the development of new diagnostic and therapeutic methods.
Our department was established at NCGM in January 2021. If you are interested, let's study genes, human diseases, and their pathogenesis together.
Publications
- Miyake N et al., Am J Hum Genet 2020 Jan 2;106(1):13-25.
- Miyake N et al., Am J Hum Genet 2016 Oct 6;99(4):950-961.
- Miyake N et al., Am J Hum Genet 2015 Oct 1;97(4):555-66.
- Miyake N et al., Hum Mutat 2013 Mar;34(3):446-52
- Miyake N et al., Hum Mutat 2013 Jan;34(1):108-10.
- Miyake N et al., Hum Mutat 2010 Aug;31(8):966-74.
- Miyake N et al., Science. 2008 Aug 8;321(5890):839-43.
Main Staff
| Director | Noriko Miyake, MD, PhD |
|---|---|
| Chief | Yuki Hitomi, PhD |
| Senior Research Fellow | Mariko Okubo,MD,PhD |
| Japan Society for the Promotion of Science RPD | Kanako Nakao, MD, PhD |
| Visiting Research Fellows | Tomoko Takamatsu, MD, PhD Shoichiro Miyako, MD Sanami Takada, MD, PhD Chisato Iwabuchi, PhD |
| Research Assistants | Yuko Maeda Rika Takei Yasutake Kawamoto |
