Aria Bhasin

Tay-Sachs disease genetic mechanisms, promising treatments, and potential hurdles

Started Oct. 24, 2023

Abstract or project description

Tay-Sachs disease (TSD) is a rare genetic lysosomal storage disorder caused by a deficiency of the enzyme beta-hexosaminidase A. It primarily affects young children in its infantile form, and affected children have a life expectancy of around 5 years of age. This review aims to discuss the disease pathology of TSD, as well as thoroughly examine the different treatment strategies that have been used for it. The scientific community has investigated many potential treatment methods for the disease, including gene therapy. Treatments have been tested in both animal models, such as Sandhoff mice, and human patients. After an analysis of these treatments, it is apparent that gene therapy has had the most success in treating TSD. However, gene therapy comes with many important factors that may influence patient access to treatment. Overall, there are many reforms to be made and issues that must be overcome to make gene therapy a more viable treatment and more accessible to patients.