ABSTRACT OF RESEARCH BEING UNDERTAKEN

In summary, the focus of the project is the exploration of the development of potential gene-based therapies for EB. Many of the genes that cause different types of EB have been characterised and it is known that EB is quite genetically heterogeneous, i.e. mistakes or mutations in a number of different genes cause different types and sub-types of the condition. In addition, even within a single gene, different mutations can be present – this is called mutational heterogeneity or mutational diversity.

Clearly, it is important that we find strategies to correct the genetic mutations present in EB. However, such strategies would be simplified if we could develop methods to overcome the mutational diversity present in some forms of EB. This project is focused on trying to achieve that for one particular type of EB, that is, EB caused by mutations in a gene called the Col7A1 gene.

In addition, for any therapy, an essential element of success will be the delivery of gene therapies to skin tissues. Hence, another aspect that will be explored in the project is the delivery of gene therapies to skin tissues. A combination of injection and electroporation (the use of a small electric current) will be investigated as a means of gene delivery to skin.