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 MoreNew National Rare Disease Office Opens
Articles by Avril Kennan
Guiding the guideline developers
DEBRA Ireland is supporting the work of DEBRA International by playing a leading role the development of clinical practice guidelines for EB.
Read MoreGreat leaps forward in EB research
The top EB researchers from around the world gathered at the EB2015 meeting in May, for three days of talks, discussion and sharing.
Read MoreAn afternoon of EB research to brighten the last day of winter
Working closely with Dr. Wenxin Wang and his team of EB researchers, DEBRA Ireland organised an exciting afternoon of EB research on the last day in January, 2015.
Read MoreValuable time with our international ‘family’
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 More5 things to know about clinical practice guidelines
DEBRA Ireland is leading an international effort to develop a series of clinical practice guidelines for EB. These guidelines have the potential to strengthen clinical care across all the different medicine specialities that EB requires.
Read MoreA positive start to Stanford gene transfer trial
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 MoreDEBRA submission to medical card consultation
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‘You immediately feel the bond we all share’ – DEBRA International Congress
Jimmy and Avril recently traveled to the annual DEBRA International Congress meeting, held this year in Rome. There, they had the pleasure of meeting the lovely Dorothee Rahn (Doro). Doro is a journalist and shared this insightful article on her experiences of the meeting with us…..
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