Drug repurposing in rare diseases: an integrative study of drug screening and transcriptomic analysis in nephropathic cystinosis

We combined a mechanism-based and a cell-based drug screening coupled to a computational analysis, which allowed to identify potential drugs and metabolic pathways relevant for the pathophysiology of nephropathic cystinosis. This result was achieved by comparing gene-expression signature of lead compounds that share common mechanisms of action or that involve similar pathways with the disease gene-expression signature revealed by RNA-seq. Overall design: In this project 6 samples (triplicate for two biological conditions) was sequenced by using DNBseq platform. Samples are conditionally immortalized proximal tubular epithelial cells (ciPTECs), from healthy donor and patient with cystinosis bearing the classical homozygous 57-kb deletion.