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WED 224 Building causality networks for inherited neuropathies
  1. Tiet May Yung,
  2. Barnes Michael R
  1. Centre for Translational Bioinformatics, Queen Mary University of London

Abstract

Background Inherited neuropathies are genetic conditions affecting the peripheral motor and sensory nerves. The number of causative genes are continuing to expand. As more genes are being discovered, more phenotypes are attributed. Despite our rapidly growing knowledge, inherited neuropathies remain incurable diseases.

With the wealth of information now available, bioinformatic platforms are available to visualise functional enrichment of genes and gene-phenotype annotations to enhance our understanding of the mechanism of disease and support hypothesis-driven research.

Methods The interactors of inherited neuropathy genes were explored using the Search Tool for Recurring Incidences of Neighbouring Genes (STRING) database. Drug-phenotype interactions were assessed using PhenogramViz, human phenotype ontology terms (HPO). We used the Drug Gene Interaction Database (DGIdb) to find drug-gene interactions then used DoGSiteScorer to view potential drug binding pockets.

Results Inherited neuropathy genes were associated with gene ontology terms related to axonal transport. A total of 380 HPO terms were annotated to the genes which shared a phenotypic spectrum with neurodegenerative disorders. We identified 221 drug-gene interactions.

Conclusion Bioinformatic platforms are available to rapidly visualise and explore large gene-sets. Platforms to annotate drug-gene interactions need to be developed to assist drug discovery and identify potential agents that can be repurposed.

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