Application of genomic medicine approaches to neurodegenerative diseases

My lab is focused on studying underlying mechanisms and genetic modifiers of neurodegenerative diseases including Huntington’s disease to develop rational therapeutic strategies. For this, we are taking integrated approaches focusing on observations in humans. Major focus areas that are critical to understand pathogenesis and to develop therapeutic strategies include: 1) investigation of molecular mechanisms of tissue specificity, 2) identification of early molecular events, 3) discovery and functional follow-up of genetic modifiers, 4) investigation of genome instability, and 5) developing allele-specific genome editing strategies to address disease-causing mutations.

1. Developing allele-specific CRISPR-Cas strategies to selectively inactivate gain-of-function mutations
2. Identification and functional characterization of genetic modifiers of Huntington’s disease
3. Investigation of a role for DNA instability in repeat expansion disorders and developing genome editing strategies to maintain repeat sequence stability