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Research
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.
Identified responsible genes
MN1: MN1 C-Terminal Truncation Syndrome (CEBALID syndrome)
Miyake N et al., (2020) American Journal of Human Genetics
ACKR3: Oculomotor synkinesis
Whiteman MC, Miyake N et al., (2019) Human Molecular Genetics
TBCD: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum
Miyake N et al., (2016) American Journal of Human Genetics
NUP107: Steroid resistant Nephrotic syndrome
Miyake N et al., (2015) American Journal of Human Genetics
KDM6A: Kabuki syndrome
Miyake N et al. (2013) Human Mutation
UQCRC2: Mitochondrial complex III deficiency, nuclear type 5
Miyake N et al., (2012) Human Mutation
SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, ARID1B
Tsurusaki Y, others, Miyake N, Matsumoto N*. (2012) Nature Genetics
CHST14: Musculocontractual type Ehlers Danlos syndrome
Miyake N et al. (2012) Human Mutation
CHN1: Duane retraction syndrome
Miyake N et al. (2008) Science
