Rare Skin Diseases

A disease is defined as rare when it affects less than 1 in 2,000 people. Rare skin diseases are classified as a diverse group of skin disorders with a variety of symptoms that vary not only from disease to disease, but also from patients suffering with the same disease.

Individually, a disease might be labelled as rare, however the total number of persons suffering with rare diseases are many. Most rare skin diseases have no cure, making living with such a disease an ongoing learning experience for patients and their families.

Here in the Charles Institute we study the genetic origin of rare skin diseases, and seek to develop novel therapeutics to correct the underlying faulty genetic defect that gives rise to such diseases. One family of rare skin diseases which we are interested in is Epidermolysis Bullosa or EB, which contains over 30 subtypes and is associated with defects in genes which confer structural integrity to the skin.

Our multidisciplinary team of cellular and molecular biologists along with polymer chemists are developing delivery strategies for gene therapy-based therapeutics applied to the skin for correcting genetic defects in such rare disease sufferers.

Epidermolysis Bullosa (Wang Group)

Epidermolysis Bullosa (EB) is a family of devastating rare skin diseases in which the skin and internal epithelium blister with friction, causing painful, open wounds. One in 18,000 newborns are affected by EB in Ireland and over 500,000 people worldwide suffer from this debilitating disorder (http://www.debraireland.org).

One of the most severe forms of EB, recessive dystrophic epidermolysis bullosa (RDEB), is caused by mutations in a protein called Collagen VII which acts to provide the skin with structural integrity. As a result, the skin lacks structural adhesion resulting in consistent blister formation and ultimately chronic wounds which lead to major scarring and contractures. Unfortunately to date, there is currently no curative treatment for EB, with palliative care and wound management the only form of therapy available to patients. Whilst figures vary from patient to patient, the average treatment costs are estimated to be over €100,000 per year.

At present, our research is focussing on the development of a curative gene therapy treatment strategy whereby a healthy form of collagen VII is delivered directly into patients cells using a polymer biomaterial carrier system. The result of this being the normal production of collagen VII in patients cells and the restoring of structural integrity to the skin.