Telethon Kids Institute

Emma De Jong



Presentation Title


Insights into asthma and unified airways disease through transcriptomics of epithelial cells




Emerging evidence suggests that the upper and lower airway are unified and that under disease settings, a pathological process in one region of the airway would affect the function of the entire airway. However, direct evidence supporting this is extremely limited and only inferred by the fact that the respiratory tract is continuous lined with epithelial cells and clinical observations of improved outcomes for lower airway disease following management of upper airway disease. Here, we directly tested this hypothesis by performing RNA-sequencing on predominantly matched nasal and bronchial epithelial brushings from 63 children with or without atopy or asthma. We then used a combination of differential gene expression, and gene co-expression analyses to determine similarity of the transcriptional landscape between the upper and lower airway. Overall, we report ~50% homology and ~50% divergence between the two sites, independent of disease phenotype and atopy. We identified sixteen modules of co-expressed genes (enriched for specific biological functions) to be conserved across nasal and bronchial epithelium. However, almost half of these were differentially expressed between the two regions. Furthermore, we identified a gene signature associated with atopic asthma that was conserved in both the upper and lower airway epithelium. Our findings suggest that in part the upper and lower airway do share a similar transcriptional composition, but also exhibit significant differences that is reflective of their region-specific functions. With significant interest in biomarker development, our data suggests that in certain settings nasal epithelial cells, may inform on lower airway disease and thus has considerable clinical implications.



Dr Emma de Jong obtained her PhD in 2016 from Murdoch University and is now a post-doctoral researcher within the Systems Immunology lab at the Telethon Kids Institute. Her research falls within in a specialised area combining immunology, transcriptomics and bioinformatics to better understand disease process spanning a wide range of research fields including cancer, asthma, cystic fibrosis and infection.