Citation | Professor of Human Genetics, Head of Division of Molecular Medicine, Scientific Director of the Centre for Dermatology and Genetic Medicine, University of Dundee
Irwin McLean is distinguished his major contributions to our understanding of the genetic basis of heritable skin diseases. Of particular note is his discovery that null mutations in filaggrin, which are carried by 10% of the population, not only cause the dry, flaky skin condition ichthyosis vulgaris but also strongly predispose individuals to the most common skin disorder, atopic eczema, and the associated phenotypes of atopic asthma, allergy and hay fever. This research has revolutionized the field by showing that a skin barrier defect, rather than an immunological defect, is the primary cause of eczema and focused attention on improving barrier function to treat these common diseases. He was also the first to map and identify the causative genes for a number of monogenic cell fragility disorders affecting the epidermis, its appendages and other epithelial tissues, including pachyonychia congenita, muscular dystrophy with epidermolysis bullosa simplex and Meesmann corneal dystrophy. His work has established that a primary function of the intermediate filament cytoskeleton, its attachment structures and modifying proteins is to provide epithelial tissues with mechanical strength.
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