The first evidence about a possible involvement of BACH1 in brain disorders came in 2003 when Shim et al. evaluated levels of BACH1 protein levels in a small cohort of post-mortem frontal cortex samples collected from DS, AD, and related control individuals to test the hypothesis that DS-phenotype may be due to the overexpression of genes encoded on chromosome 21 [58]. Here, BACH1 is linked to brain disorder.