Year 1

Alexander disease (AxD) is a devastating childhood disease that affects neural development and causes mental retardation, seizures and spasticity. AxD children usually die by the age of six. AxD occurs in diverse ethnic, racial, and geographic groups and there is no cure; the available treatment only temporally relieves symptoms, but not targets the cause of the disease. Previous studies have shown that specific nervous system cells called astrocytes are abnormal in AxD patients. We generated special cells, called induced pluripotent stem cells (iPSCs) from the skin cells of AxD patients, and coaxed them to develop into AxD astrocytes. We will study these AxD astrocytes to find out how their defects cause the disease, and then use them to validate potential drug targets. In the future, these cells can also be used to screen for new drugs and to test novel treatments. In addition to benefiting AxD children, we expect that our approach and results will benefit the study of other, similar childhood nervous system diseases.