Areas of Interest
Cerebellar Ataxia with Neuropathy and Vestibular Areflexia syndrome (CANVAS) is a poorly understood late-onset repeat expansion disorder characterized by sensory neuropathy and cerebellar ataxia. The pathogenic repeat (AAGGG/CCCTT) is located at the 3’ end of an AluSx3 element in the second intron of RFC1. Current evidence does not support either an RFC1 loss of function or an established repeat elicited gain of function mechanism, leaving a puzzle as to how this repeat leads to disease. My research is focused on uncovering the mechanism by which this repeat elicits disease in CANVAS patients using patient derived stem cell models and patient samples, with a long term goal of informing therapeutic strategies for this disease.