Our research is in two related areas. First, we track down faulty genes that cause skin disorders, especially those affecting the epidermis. We also work on inherited diseases of related epithelial tissues, such as the cornea. Secondly, based on understanding how the underlying causative genes work, we develop new treatments for these incurable diseases.
Within dermatology, we specialise in the large group of single gene keratinizing disorders – diseases that cause blistering and/or overgrowth (hyperkeratosis) and/or scaling/flaking of the epidermis (ichthyosis).
In complex trait genetics, through our study of the dry, scaly skin disorder ichthyosis vulgaris, we discovered that common loss-of-function mutations in the filaggrin gene represent the major genetic predisposing factor for atopic eczema and related allergic conditions.
As well as identifying new genes, we are able to offer diagnostic testing for all the genes we have identified through our sister laboratory in NHS Tayside.
In recent years, our main focus has been therapy development, with major research programmes aimed at siRNA therapy in the keratinizing disorders of skin and cornea, as well as small molecule drug discovery programmes aimed at severe skin blistering disorders, as well as enhancement of skin barrier function in atopic eczema.
Our lab is based in the Division of Molecular Medicine - a cross-college translational research initiative linking Life Sciences and Medicine. We are also part of the centre for Dermatology and Genetic Medicine (DGEM) - an interdisciplinary research centre that brings biologists and clinicians together with physicists and chemists to tackle the major challenge of developing new medicines for skin disease and delivering these novel molecules into the skin. DGEM recently received a £5.9m Strategic Award from The Wellcome Trust (click here for press release).
We very recently identified a new gene causing a painful and debilitating skin disorder, punctate palmoplantar keratoderma (also known as punctate PPK or PPKP1). The results were published in the top genetics journal Nature Genetics and widely reported in the media (click here for press release). If you suffer from this or a similar skin condition causing overgrowth of thick skin on palms and soles (there are many related subtypes of this condition) and need patient support, genetic diagnosis or would like to get involved in research, please contact us.
Click on the links below to find out more about our major research areas.