Genetic Diseases & Cancer

All the components of skin are determined by genes. Changes can occur in the sequence of letters that make up the building blocks of DNA. These genetic mutations can play a role in particular genetic skin diseases. 

Genetic Diseases

Epidermolysis bullosa (EB) is a family of genetic skin diseases characterised by skin fragility. Its clinical severity varies, with the resultant spectrum of symptoms and complications depending on the genetic subtype. Minor friction or trauma can lead to blistering and wound formation affecting skin and mucous membranes. This may also lead to secondary complications including infection, sepsis, deformities and skin cancer. At UCD Charles Institute, many researchers are focused on projects that centre on EB.

Dr Wenxin Wang and his team are investigating a form of EB called recessive dystrophic epidermolysis bullosa (RDEB, OMIM ID #226600) with the view of developing gene therapy.

Professor Martin Steinhoff and his team hope to identify and characterise key itch pathways, receptors and mediators (neuropeptides, proteases, cytokines, chemokines or growth factors) in different EB subtypes. 


Skin cancer is the most common form of cancer in Ireland. Malignant melanoma is an aggressive skin cancer with one of the highest cancer mortality rates. In Ireland, approximately 600 people are diagnosed with melanoma each year while a further 6,200 people are diagnosed with non-melanoma skin cancer each year.

Latest research reveals that certain cell signalling pathways combined with genetic predispositions are critically involved in melanoma. However, important differences among different melanoma subtypes still exist and this hampers the effectiveness of melanoma therapy.

At UCD Charles Institute, using genetic, bioinformatics and -omics technologies, combined with high-throughput cell signalling devices, we aim identify and test novel and therapy-resistant melanoma subtypes in disease models and in human systems, in vitro and ex vivo. In a translational setting, novel therapies will be tested in human clinical trials.