Skin Genetics Consortium

Initial Phase

The initial phase of the skin genetics consortium is focused on defining the landscape of common genetic variation that contributes to the risk of developing common skin diseases and traits across global populations.

This initial project is funded by the Leo Foundation. We are working closely with population-scale biobanks across the world to perform genetic analysis on skin conditions that are routinely collected in electronic health records.

The results from this study will be made available through the Skin Knowledge Portal and will form the basis of future studies investigating the shared and distinct components of genetic risk between diseases and use this information to understand the biological mechanisms of disease and how this information can be used to identify optimal therapeutic intervention strategies to improve health outcomes.

Initial Phase Phenotypes

Our Clinical Working Group have identified the following skin phenotypes and phenotype groups for initial investigation in each of our contributing Biobanks and Research Cohorts. The figure below provides an overview of the current sample sizes across phenotypes, with each compared to the largest previously reported GWAS (black dot).