Home Department: Biology
Mentor: Birgitt Schuele (Pathology)

“Functional Characterization and Treatment of ATXN10 Cell Lines”

Spinocerebellar Ataxias (SCAs) are inherited progressive disorders which can lead to impaired coordination, and slurred speech. There are over 40 different SCA subtypes, with onset ranging the entire lifespan. Given the variation in nature, treatment options are scarce, however a promising research avenue is using small molecules that selectively target mutations known as repeat expansions present in many SCA subtypes. The goal of this project is to exploit a penta-nucleotide repeat, ‘ATTCT’, found in SCA subtype 10. In collaboration with Dr. Matthew Disney, using the compound (2AU-2) that selectively binds base pairs ‘AU’, to inhibit RNA, the Schuele lab will test to what extent they can ameliorate dysfunctional cell types developed from induced-pluripotent stem cell (iPSC) neurons, fibroblasts, and possibly Purkinje cell lines. This work will allow them to assess the efficacy of 2AU-2 as a treatment for SCAs.