The Dermatology research programme in the NCRC focusses on two thematic areas, namely, the study and treatment of rare genetic skin disorders and vascular anomalies, and the study of the most common inflammatory disease of childhood, Atopic Dermatitis (Eczema).
The rare disorders program is closely aligned to our clinical service in Children’s Health Ireland at Crumlin. We are, uniquely in Ireland, full members of two European Reference Networks (ERN), one for Rare Skin Anomalies and one for Vascular Anomalies. These memberships reflect our expertise in these domains over the last 2 decades. We have collaborated with a number of centres and Principal Investigators (PIs) to determine the genetic basis for several genodermatoses, including heritable epithelial fragility disorders such as ichthyoses, keratodermas, ectodermal dysplasias and epidermolysis bullosa. As a PI, or in collaboration with others, our group has reported first identification of causative genes in several Mendelian disorders including Meesmann Corneal Dystrophy, Netherton Syndrome, AEC / Hay Wells syndrome, Laryngo onycho cutaneous (LOC) syndrome.
The Atopic Dermatitis (AD) research programme focusses on the genetic determinants of atopic dermatitis (eczema), the most common inflammatory disease of infancy and childhood. We have made several pivotal discoveries in this area. We have ongoing studies on non-invasive biomarkers for AD, of skin barrier function, and of the role of the microbiome in development of this disease. We participate in both industry- and investigator-led clinical trials to develop better therapies for AD. In 2006, working with long time collaborative partner Irwin McLean (University of Dundee), Professor Irvine reported the role of filaggrin loss-of-function mutations in ichthyosis vulgaris and then in atopic dermatitis and asthma. These findings have been widely replicated and have changed how allergic disease is understood, with a primary epithelial barrier defect now seen as a central player in the mechanisms of these common diseases. These findings have informed thinking in all aspects of atopic disease from basic research to steps towards disease prevention and personalised medicine.