October 2014

Supporting EB Awareness Day 2014

Thu, 16 October 14 08:22

Epidermolysis bullosa is a rare, genetic, fragile skin condition that causes the top layer of skin, the epidermis, to blister and breakdown. Researchers in UCD Charles Institute, led by Dr Wenxin Wang are studying a particular type of EB that is due to a mutation in the COL7A1 gene. This gene codes for a structural protein that acts to anchor one layer of the skin to another. Without it, even the slightest rubbing or friction against the skin causes blisters.

The Wang group hope to develop an in vivo gene therapy that can be topically applied to the patient. They are trying to synthesise a polymer-based vector or carrier that can deliver the COL7A1 gene into the skin layers so that it can produce the missing collagen protein where it is most needed.

This research is being partly funded by DEBRA Ireland who are dedicated to driving and supporting research into effective treatments for EB while doing everything possible to alleviate the difficulties experienced by people living with EB.  

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