Functional characterisation of genetic susceptibility to psoriasis
The field of research I am currently working for my DPhil involves the chronic inflammatory disease of the skin known as psoriasis. Psoriasis is influenced by environmental factors but an important genetic susceptibility has also been revealed by the different genome-wide association studies (GWAS) performed. Although these studies have identified particular regions of the human genome associated to an increased risk of developing psoriasis, causative variants are still unknown for many of these loci and their functional implication in the development of the disease remains unclear.
The aim of my project is deciphering the functional implications of inherited susceptibility variants (particularly common single-nucleotide polymorphisms), focusing on those which modulate gene expression and could have a translational relevance in disease.
In order to achieve this aim, I will be using a functional genomics approach integrating information from psoriasis GWAS, public genome annotation, gene expression quantitative trait mapping (eQTLs), epigenetic profiling and chromatin interactions assays from disease relevant cell and tissue types. Overlapping of all this data will help in the identification of putative functional variants and their subsequent characterisation by functional assays in the context of cutaneous immunity.Regarding my background, I completed my undergraduate degree in Biotechnology at Universidad Politecnica de Valencia (Spain) in 2010. In 2011 I moved to London where I was working in a company providing laboratory services in the field of microbiology. Among 2012-2014, I completed an MSc in Molecular Medicine and an MRes in Biomedical Research (sponsored by British Heart Foundation) at Imperial College London. I developed the research projects from both courses in the department of Vascular Science, working in the study of different molecular mechanisms driving chronic inflammation in endothelial cells and macrophages. I am currently studying for a DPhil in Clinical Medicine.