UF Lysosomal Storage Disease Program is committed to offering a comprehensive and personalized clinical care for patients suffering from lysosomal storage diseases (LSDs).
We are developing robust high-throughput screening (HTS) cell-based assays using directly patient cell lines to screen selected libraries of drug-like compounds that enhance the residual activity of specific misfolded mutant enzymes.
we are currently establishing fibroblast-derived induced-neuronal (iN) cells from patients with LSDs. The iN cells from LSD will be crucial to investigate pathogenic cascades of neurological relevance. The aim is to investigate to confirm LMP in different LSDs and investigate the molecular mechanisms causing LMP and its downstream events in iN cells from LSD patients.
Several clinical studies related to the natural history of different LSD and early and late phase clinical trials in collaboration different pharmaceuticals. Most subjects are evaluated and recruited for the studies in clinic.