NCE (Year 4)
Alexander disease (AxD) is a devastating childhood disease that affects neural development and causes mental retardation, seizures and spasticity. AxD children show delayed mental and physical development, and 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. Astrocytes support both nerve cell growth and function, so the defects in AxD astrocytes are thought to lead to the nervous system defects. We want to generate special cells, called induced pluripotent stem cells (iPSCs) from the skin or blood cells of AxD patients to create a platform for the study and treatment of AxD. We have already coaxed patient iPSCs into AxD astrocytes and identified promising cellular mechanisms underlying the pathology of this devastating neurological disease. The knowledge we gained from this project could help to design new therapeutic strategies to target this disease and other related diseases.