Health Minister Leo Varadkar at the launch of the Rare Disease Office
Health Minister Leo Varadkar at the launch of the Rare Disease Office

After many years of tireless advocacy work, of which DEBRA have been a part of, a National Rare Disease Office was launched by Health Minister Leo Varadkar in early June.

Read More

In September we joined over 40 other DEBRA organisations from around the world at the DEBRA International Congress in Paris. Our small team played a big role at the Congress, presenting on developments in research, EB clinical practice guidelines, our plans for EB Awareness Day and the future of DEBRA International communications and marketing.

Read More
The campus at Stanford University
The campus at Stanford University

Following many years of painstaking preparation, Professor Alfred Lane and a strong team of researchers in Stanford University, California, have begun a clinical trial to test the effectiveness of a potential gene therapy for RDEB. This approach involves taking samples of the patient’s own keratinocyte (skin) cells and using specially adapted viruses, to carry full copies of the collagen 7 gene into the cells, in the lab. The cells are then grown into sheets of epidermis (skin) and grafted back onto wounds on the patient’s body.

The results from the first patient to undergo this experimental procedure have been reported (see abstract 430 on this webpage). He is a 23 year-old man, with RDEB, who normally has almost no collagen 7 in his skin. Six sheets of ‘corrected’ epidermis, each measuring approximately 35cm2, were grafted onto carefully prepared wounds on his arms.

The research team have reported that the grafts were not rejected by the patient’s body and that they looked ‘clinically normal’ after 30 days. Laboratory analysis of biopsies from the grafted regions showed that normal looking collagen 7 was present in the skin and was behaving as it should. Most importantly, the team also reported that the grafted areas were not blistering and not itchy.

It’s still very early days for this clinical trial but these first results are encouraging. We wish to thank Prof Alfred Lane and his team for their continued commitment and also to thank the people with EB who will be participating in this landmark clinical trial.

Avril Kennan, Head of Research and Advocacy, DEBRA Ireland

Read More

It’s crazy to think that people with EB might not be included on a list of conditions eligible for a medical card. None-the-less, the Government asked for submissions to help them decide which conditions are most in need and so we made a submission. 

Read More