Genomic Disorder and Gene Expression in the Developing CNS

The central nervous system (CNS) is composed of billions of neurons with trillions of synaptic connections specifically designed for large amounts of information processing through parallel representational neural networks. The level of diversity required for higher order human cognition is, in large part, genetically regulated and, for this reason, highly susceptible to genomic instability resulting in neurological dysfunction. Cellular diversity is regulated by molecular mechanisms at multiple levels: DNA, RNA, and protein. This article focuses on the level of DNA – specifically, how genomic changes influence gene expression in the normal brain and in human genomic disorders.