Dr. Flanagan-Steet
Using slc17a5 Zebrafish Mutants as a Platform to Screen Therapeutic Candidates
Free Sialic Acid Storage Disorders (FSASD) comprise a group of rare disorders caused by mutations in the SLC17A5 gene. Genetic variants that compromise SLC17A5 cause a sugar molecule (sialic acid) to accumulate in a compartment of the cell called the lysosome. The FSASD are associated with developmental delay, seizure, and progressive neurodegeneration. The research team developed two different slc17a55 deficient zebrafish lines. These animals have a robust swim defect that will be used as the basis to screen candidate small molecules (drugs) for therapeutic potential. Two FDA approved drugs (currently used to treat other diseases, but that could potentially be “repurposed” to treat FSASD) will be investigated, with the insight gained leveraged to streamline future pre-clinical studies in mammals.
Budget: $48,000
Length of project: 1 year
