At the DEBRA International Congress, Prof. Peter Marinkovich updated us on the results of a phase 1 gene therapy trial for EB. His research group in Stanford California are using viruses to introduce into skin collagen 7, which acts as a skin glue and is missing or reduced in people with a severe form of EB.

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Lara (centre) at the conference together with Ignacia Fuentes and Francis Palisson from DEBRA Chile.
Lara (centre) at the conference together with Ignacia Fuentes and Francis Palisson from DEBRA Chile.

Dr. Lara Cutlar, an EB researcher at the Charles Institute in UCD, recently traveled to the 75th Society of Investigative Dermatology meeting in Arizona and reported this to us….

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Participants at the Irish Rare Disease Day event
Participants at the Irish Rare Disease Day event

We marked Rare Disease Day at an event in Dublin Castle, with over 100 others on leap day – a rare day for rare diseases. Much progress has been made in the struggle to have the voices of those with rare conditions heard. There were more people present at the event than any such event in the past and there were positive updates on the new National Rare Diseases Office and the clinical programme for rare diseases. While there is lots of progress to celebrate, much frustration remains within the community however, in particular relating to very long waiting lists for genetic services and blocks in the access to rare disease medicines.

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Members of the EB research teams, Imre, Jonathan, Catia and Helen gearing up for the Wicklow challenge
Members of the EB research teams, Imre, Jonathan, Catia and Helen gearing up for the Wicklow challenge

The Charles Institute of Dermatology in UCD is now a buzzing hive of research activity and, to our delight, much of that research is focused on EB. The commitment to EB shown by the researchers there is heart-warming and a number of them will be participating in the DEBRA Wicklow Mountains Challenge on Sunday! 

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