Repeat expansion disorders are a large class of inherited diseases caused by unstable DNA repeats that grow over time in specific tissues. While many therapeutic strategies focus on lowering toxic proteins or RNA products, our lab is exploring whether boosting protective DNA repair pathways can slow the underlying repeat expansion process itself. This research will extend an AAV-based DNA repair enzyme overexpression strategy into additional repeat expansion disorders, with an emphasis on spinocerebellar ataxia type 1 and myotonic dystrophy type 1. This work aims to evaluate how gene delivery, tissue targeting, and repeat-instability measurements must be adapted across different disease contexts. Unlike Huntington’s disease, where striatal brain tissue is a major focus, these disorders require attention to additional vulnerable tissues, including cerebellum in ataxia models and skeletal muscle in myotonic dystrophy models.

I am excited to participate in the SuperUROP program this year to dive deeper into my previous research in the Housman Lab. SuperUROP presents the opportunity to conduct focused research while learning how to analyze, interpret, and format findings at a high level.