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Approved research

Identification of genetic loci associated with skin diseases using an improved GWAS methodology, and discovery of novel therapeutic targets

Principal Investigator: Dr Cecilia Salvoro
Approved Research ID: 52927
Approval date: January 14th 2020

Lay summary

We propose a project to improve the knowledge of skin diseases, specifically atopic dermatitis, actinic keratosis, psoriasis, and non-melanoma skin cancer, for which treatments are either limited or with a limited effectiveness. The project relies on a novel methodology to discover the genetic components of these skin diseases. Compared to previous studies, our methodology allows us to perform a more comprehensive investigation of the genome, and test alternative genetic hypotheses that are normally unexplored. More in details, our approach enables to obtain genetic information in the UK Biobank cohort for up to 15 million variants, that can then be tested for association with the diseases. This high-resolution investigation of the genome, will also include the X chromosome and some type of variants (i.e., small insertions/deletions, or low-frequency/rare variants), that are commonly excluded in association studies. We thus expect to identify new genomic regions associated with these skin diseases, as well as to refine the regions previously associated, increasing the chance to identify the causal variants. Results will therefore provide important advancements in the understanding of the biological mechanisms leading to diseases, thus laying the bases for the identification of candidate therapeutic targets. In collaboration with a pharmaceutical company, Almirall, this targets will be evaluated for the generation of drug discovery programs. In conclusion, this research has the potential to produce new and/or more effective therapies for skin diseases.