Human Microglia Model of Spinocerebellar Ataxia Type 1 (SCA1)

Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disease with no disease modifying treatments or therapies available. Patients with SCA1 have relentlessly progressive movement and cognitive deficits and die prematurely 10 to 20 years from the disease onset. The goal of this project is to develop a human microglia (the immune cells of the brain) model of SCA1 to better understand the disease development and how mutations in the ATXN1 gene contributes to disease progression. Successful completion of this project will pave the way for future studies to develop therapies that will target and modulate microglia resulting in better treatments for patients with SCA1.