As cerebellar dysfunction is thought to underlie ARSACS pathology, work from the McKinney lab focus on identifying novel disease-causing mechanisms in a mouse model of ARSACS, as well as implementing new therapeutic approaches to ameliorate cerebellar function and motor deficits. We have identified promising new dysregulated gene products using RNA-Seq and bioinformatics and are pursuing these experimentally. We are using a multidisciplined approach combining electrophysiology, molecular and biochemical approaches to understand the mechanisms why certain Purkinje cells are more vulnerable to die. Based on our findings we are now testing novel therapeutic approaches to prevent Purkinje cell death and prevent ataxia.

Grant: $98,000

Durée : un an