Huntington’s disease (HD) is a progressive neurodegenerative disorder resulting from CAG trinucleotide repeat expansions in the HTT gene. Despite extensive research, no disease-modifying treatments are currently available. Our therapeutic approach focuses on upregulating FAN1. FAN1 has robust genetic evidence supporting its role in attenuating HD pathogenesis. Studies indicate that FAN1 stabilizes the HTT CAG repeat region, potentially delaying disease progression. Furthermore, DNA repair enzymes like FAN1 have been implicated in repeat expansion dynamics across various repeat expansion disorders (REDs), highlighting the therapeutic potential of targeting DNA repair pathways. By enhancing FAN1 expression, this strategy seeks to stabilize CAG repeats, reduce somatic instability, and improve cognitive and motor functions. The proposed work focuses on optimizing and validating AAV-mediated FAN1 delivery to attenuate HD pathogenesis.

I love biological engineering, and my long-term goal is to become an independent scientist capable of taking a research question from conception through experimental design and execution. While my research experiences have provided outstanding mentorship, they have also reinforced that I am ready to take greater ownership of the scientific process. SuperUROP funding would provide the opportunity to step beyond the role of a student carrying out assigned experiments and toward that of an independent researcher, giving me the time, resources, and autonomy to design and troubleshoot my own investigations. This experience would be an invaluable step in my development as a future scientist.