Regulatory and Functional Genomics of Human Skin Ageing

The degenerative changes seen in skin ageing are associated with increased susceptibility of individuals to a number of diseases, resulting in a number of costs to both individuals and healthcare systems. As such, it is important that we understand the processes that drive and regulate skin ageing.

The research aims to investigate the role of DNA methylation, expression, and genetic variation in skin ageing. Part of the study was investigation of DNA methylation in ageing skin, using Epigenome-Wide Association Studies (EWAS) to identify methylation signatures that correlate with age in twins. It was identified that skin methylation-Quantitative Trait Loci (meQTLs), genetic variants may drive these methylation signatures. Additionally, the heritability of these methylation signatures were investigated, as well as the effects of smoking and BMI on DNA methylation in twins, and a Genome-Wide Association Study will be performed for previously established DNA methylation age estimators.

By combining genomic, epigenomic, and transcriptomic data, the study will develop causal networks for skin ageing, using techniques including machine learning to estimate network states, using protein staining data in young and old skin to validate the networks, and assigning known biological processes to these networks. Integrating these networks with single cell data the research will identify if these networks involve cell-to-cell signaling.