Exon skipping approach to recessive dystrophic epidermolysis bullosa
| Investigator(s) | Prof Alain Hovnanian & Dr Matthias Titeux, INSERM |
| Research area | Drug therapy |
| Aim | Whole body treatment |
| EB sub-type | Dystrophic EB |
| Status | Current |
Lay summary
This project uses an approach called exon skipping, which allows mutations (the part of the gene where there are errors) to be skipped, rather than transferring a normal copy of the Collagen VII gene (COL7A1). The aim is to create a shorter but functional Collagen VII protein. Preliminary results have been encouraging in animal models. Now this work will progress to larger proof of concept experiments and toxicology studies prior to a clinical trial in people.
