| SUMMARY OF RESEARCH BEING UNDERTAKEN
Junctional
EB
Junctional EB is a group of recessively inherited skin disorders
caused by a genetic defect at the junction between the layers of the skin known as the
dermis and epidermis. The results are extensive blisters and extreme fragility of the skin
and mucous membranes. In some cases Junctional EB results in death in infancy from
overwhelming skin blistering and secondary infection. Other cases of a non-lethal form may
be associated with a normal life span but produce blister wounds that are chronically
difficult to heal. At present there is no effective treatment for Junctional EB.
The ultimate goal of EB research is to try to develop "gene
therapy". Correcting the gene abnormalities in EB skin is expected to lead to
stronger skin and fewer blisters. Recent laboratory discoveries now allow for the design
of newer treatments involving replacement of defective EB genes.
This project looks at correcting the faulty
genes in some forms of Junctional EB. This preliminary work is expected to form a
practicable basis for planning future studies of gene therapy in EB involving several key
researchers across Europe and to bring the "ultimate goal" one step closer to
reality for EB families.
The Researchers
The collaborative research will be led by Dr John McGrath an ex
DebRA Fellow who has considerable specialist experience in Junctional EB gained over more
than 3 years. He will be working in Dr Meneguzzi's laboratory in association with Prof
Ortonne at the University of Nice who have been leaders in the field of scientific
research into Junctional EB for more than 10 years. |
