The genetic basis of pustular skin disease
We have been pursuing the identification of genes that are mutated in pustular psoriasis (PP), a rare, but very severe variant of psoriasis. Using a combination of whole-exome sequencing, candidate gene studies and in-vitro functional assays, we have identified three genes (IL36RN, CARD14 and AP1S3), which are associated with the disease.
We are also interested in genotype-phenotype correlations. We have established a partnership with the European Rare And Severe Psoriasis Expert Network (ERASPEN), which has enabled us to pool our resources and generate an extended patient dataset.