Research into rare childhood disease offers new hope

A major research project at Trinity College Dublin is offering hope for children who suffer from a rare skin-blistering disease…

A major research project at Trinity College Dublin is offering hope for children who suffer from a rare skin-blistering disease.

Scientists have already identified the genes which cause epidermolysis bullosa (EB), a genetic condition which in its most extreme form causes severe open wounds all over the body and spontaneous blistering under the skin.

More than 200 children in Ireland are receiving treatment for the disease. Because of the delicacy of their skin, they have become known as "butterfly children".

Even in its mildest forms, EB leaves children unable to participate in the most simple tasks.

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In its most severe forms, EB leaves sufferers susceptible to skin cancer and can be fatal.

Debra Ireland, founded in 1988 by parents of children with EB, is helping to fund a research project directed by Prof Peter Humphries, professor of medical molecular genetics at Trinity College.

According to Ms Carmen Brown of Debra Ireland, at least £100,000 must be raised this year to fund the research, in addition to £50,000 to provide an EB liaison nurse at St James's Hospital in Dublin.

"Some hereditary diseases are benign and harmless, but regrettably, the vast majority are not," said Prof Humphries.

"Many are distressing, some are life-threatening and some are truly horrific and EB is, unfortunately, of the latter type. It is truly awful."

His team is researching ways of either replacing the defective genes which cause EB or addressing a means of suppressing its dominant effects.

Fortunately, the accessibility of the skin makes it easier to research cures for EB than for many other genetic diseases.

Most up-to-date research from Trinity aims to suppress mutated collagens - deep bonds within the skin's structure, which create the abnormality which manifests itself as EB.

Prof Humphries said it had been a "marvellous pleasure" to work with the parents of sufferers and with Debra Ireland. He hoped the work of researchers here would continue to contribute to the global effort to eradicate genetic illness.

Debra Ireland is holding a fund-raising Butterfly Ball on Saturday, March 31st, at Leopardstown Pavilion, Co Dublin.

Tickets are £125 or £1,250 for a table of 10 from Ms Brown at 01-8725192.