There is very little clinical guidance on how to care for people with EB. We therefore need a way to capture the precious knowledge of healthcare professionals who have expertise in EB and also to base care on scientific evidence, whenever it exists. We do this through the development of clinical practice guidelines. We are delighted to announce that new EB clinical guidelines, on the topics of psychosocial issues, occupational therapy and podiatry, have been initiated. Continue reading
Over 30 people from across Europe, including clinical leaders from the EB community, DEBRA representatives and experts in patient registries came to Dublin in July to discuss EB patient registries. Working with the Irish Skin Foundation we are progressing plans for an Irish EB patient registry and a network of EB registries across Europe.
Our flagship campaign saw 200,000 EB butterfly tattoos being shared across Ireland to support families living with EB. Celebrities got behind the campaign too, with Johnny Sexton appearing on The Late Late Show to talk about his involvement as well as our charity partners Applegreen and Leinster Rugby lending support. Continue reading
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. Continue reading
There has been much activity across Europe recently to establish rare disease European Reference Networks (ERNs), “groups of highly specialised providers across the EU”. Continue reading