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 shifted towards therapy development, with major research programmes aimed at RNA 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 Biological Chemistry and Drug Discovery (BCDD) – a multidisciplinary translational research grouping with a strong focus on developing treatments for incurable and neglected diseases. We are also part of the centre for Dermatology and Genetic Medicine (DGEM) - a virtual 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 is funded by a Strategic Award from The Wellcome Trust.
We are particularly interested in rare diseases that cause thickening and blistering of the skin ("keratinizing disorders"). 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 these conditions) and need patient support, genetic diagnosis or would like to get involved in research, please contact us.
We also run an International patient support organization for one type of rare skin diseases, pachyonychia congenita (PC). If you have this condition or something similar, please get in touch either through our patient site (PC Project) or using the contact link above and we will try to help you. PC Project offers free genetic testing for patients to confirm their diagnosis, as well as organizing regular patient support meetings and providing literature for patients, families, doctors, schools etc to inform others about the problems of living with these rare diseases.
Click on the links below to find out more about our major research areas.