Dissecting the role of Sox2 in neurons of the visual thalamus: insights into developmental visual disorders

Disorders affecting the visual system are extremely debilitating for children and largely still lack cures. Mutations in the gene SOX2, important for the normal development of the visual system, lead to a rare disease of vision. We were able to reproduce in mouse many of the defects found in patients with mutations in the SOX2 gene. Recently, we discovered that SOX2 is very important for the development of a class of neurons in a specific brain region, the thalamus. These neurons receive information from the eyes and communicate with the region of the cerebral cortex that processes visual information. When Sox2 is mutated, the communication between the eyes and the cortex is affected. To understand how Sox2 regulates the formation of the visual system, we searched for other genes affected by its mutation in the thalamus. We identified many genes deregulated in Sox2 thalamic mutants, some of them directly regulated by SOX2. We will determine which cell types in the thalamus require SOX2 to develop correctly. We will develop assays in vitro to study how SOX2, and the genes it regulates, control the development of thalamic neurons and their communication with other neurons of the visual system. Identifying and studying genes involved in human disorders can help us understand the causes of the disease and design appropriate cures.