Finding and understanding faulty genes that cause skin diseases

Research groups within DGEM have discovered the faulty genes that cause several skin diseases.  Understanding the root cause of these disorders paves the way for developing new treatments.


Keratinizing disorders

Within dermatology, we are particularly active in identification of genes that cause the large group of skin conditions known as keratinizing disorders.  These are inherited diseases that cause blistering and/or overgrowth (hyperkeratosis) and/or scaling/flaking of the epidermis (ichthyosis).  Many of these conditions affect the palm and sole skin, causing thickened, painful callus formation (known as keratoderma), particularly over the pressure points of the feet.  This work is led by Frances Smith, John McGrath and Irwin McLean.

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.


Non-melanoma skin cancer genetics

A second area of genetics that is very actively pursued by DGEM research groups is the genetic changes that underlie various forms of skin cancer, but in particular, non-melanoma skin cancer.  This work is led by Andy South, Charlotte Proby and Irene Leigh.


Atopic dermatitis (eczema) genetics

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 (also known as atopic dermatitis) and related allergic conditions, including atopic asthma, hayfever and food allergies such as peanut and other nut allergies.  This work is led by Sara Brown, Aileen Sandilands and Irwin McLean.


Genetic testing for skin diseases

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.  For more information about the tests we can offer and contact information, click here.