Epidermolysis Bullosa (EB) is a family of rare, incurable, inherited disorders that are characterized by extreme skin and mucosal fragility. The two most severe forms are recessive dystrophic EB (RDEB) and junctional EB (JEB). RDEB is caused by mutations in the gene encoding type VII collagen, JEB is caused by mutations in genes encoding the skin basement membrane proteins laminin 332, type XVII collagen or the integrin α6β4. Despite similarities between the disease pathologies there is a dramatic difference in life expectancies between the two types of EB. RDEB patients survive to early or mid-adulthood whereas severe JEB patients rarely survive beyond the first 1-2 years of life.
The reason for this disparity in survival despite the similarity in blistering is poorly understood.
Through a collaboration with the National Epidermolysis Bullosa Service based at GOSH we have access to 20 years of EB patient samples (65 JEB and RDEB samples), these include tissue in RNA Later and matched frozen tissue blocks. We propose a 4 year PhD studentship to analyse and compare RDEB and JEB patient samples using RNASeq combined with tissue imaging using the CellDive imaging platform. This will generate a unique dataset of gene expression profiles for EB uncovering the molecular and cellular changes underlying differences in these diseases.
The PhD student will identify druggable targets within this dataset which will be tested using our in vitro 3D organotypic skin models of RDEB and JEB.
This PhD studentship will train the next generation of skin researchers in state of the art techniques.
The data generated by this project will be shared with the EB and skin research community providing an invaluable resource to move forward EB research.
Please use this link to apply: https://mysis.qmul.ac.uk/urd/sits.urd/run/siw_ipp_lgn.login?process=siw_ipp_app&code1=RFQM-W1XF-05&code2=0014
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