Gene expression connectivity mapping approach to drug repurposing for cystinosis

Presented by Dr Shu-Dong Zhang, Northern Ireland Centre for Stratified Medicine, University of Ulster, C-TRIC, Derry/Londonderry

Gene expression connectivity mapping is an advanced bioinformatics technique that establishes connections among different biological states via their gene expression profiles/signatures. An important application of connectivity mapping is the identification of small molecule compounds capable of inhibiting a disease state. In this presentation, we report the results of a pilot study on drug repurposing for cystinosis with connectivity mapping. A core set of genes implicated in cystinosis was obtained through a systematic review and meta-analysis of the cystinosis literature. This core gene set formed a coherent interconnected network, with functional enrichment analysis confirming their functional relevance to cystinosis and related processes. These were subsequently used as input to tested connectivity mapping procedures for repurposing screen of over 1,000 FDA approved drugs. We have obtained lists of candidate drugs with potential to supress the cystinosis disease state, demonstrating that application of connectivity mapping to cystinosis is a promising and feasible approach to drug repurposing.