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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
TEDC1: A new syndrome with severe growth impairment and endocrine complications
GON4L: A new syndrome with microcephaly, brain structure abnormalities, and situs inversus
MN1: MN1 C-Terminal Truncation Syndrome (CEBALID syndrome, MIM# 618774)
ACKR3: Oculomor-Abducens synkinesis (OCABSN, MIM# 619215)
TBCD: Encephalopathy, progressive, early-onset, with brain atrophy and
thin corpus callosum (PEBAT, MIM# 617193)
NUP107: Nephrotic syndrome, type 11 (MIM# 616730)
KDM6A: Kabuki syndrome 2 (MIM# 300867)
UQCRC2: Mitochondrial complex III deficiency, nuclear type 5 (MIM# 615160)
SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, ARID1B
CHST14: Ehlers-Danlos syndrome, musculocontractural type 1 (MIM# 601776)
CHN1: Duane retraction syndrome 2 (MIM# 604356)
