Thousands of rare genetic disorders collectively affect over 10% of the US population. The majority of such disorders are caused by de novo mutations that alter gene expression and function, and there is little or no cure. Our lab seeks to address this challenge by targeting the root genetic causes of neurological disorders. We have been investigating molecular targets and reagents to treat rare genetic diseases by redirecting pre-mRNA splicing.

1) Identification and validation of the impact of mRNA isoforms on gene expression.

2) Designing and implementing intervening reagents.

1) We will use bioinformatic tools and molecular experiments to predict and measure the effect of mRNA isoforms on gene expression levels.

2) We will use genetic approaches, antisense oligonucleotides, and small molecules to intervene and redirect mRNA isoforms.