Discovery and translation in rare and common inflammatory childhood disease

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Inflammatory skin diseases are clinically and genetically complex and the underlying disease causes are largely unknown. These disorders are particularly difficult to understand because of the interaction of genetic and environmental factors, and considerable variability in clinical severity among patients and their affected family members. Current treatment relieves itch and redness but is not a cure and often involves undesirable side effects. In this proposal, we use modern DNA sequencing techniques to disclose the causes of both common and rare skin inflammatory childhood diseases in large numbers of patient. Cells derived from patients skin and artificial skin models will be used to study the cause of these defective proteins. Understanding the role of the new proteins in the organisation of the skin and in inflammation will open new possibilities for novel therapeutic approaches for treatment of those complicated and distressing disorders.