Epidermolysis
Bullosa is a set of genetically inherited conditions affecting 1 in at least 17,000 of the
population. A fault in a gene causes the skin to be extremely fragile. The layers of the
skin do not adhere properly and painful widespread blisters occur very easily. Currently
there is no effective treatment. However it is widely anticipated that gene therapy will
eventually provide lasting and effective treatments for patients for patients suffering
from EB.
Patients with Recessive Dystrophic forms of EB (RDEB) are particularly prone to develop
skin cancer. Such malignancies commonly appear at sites of recurrent wound healing and
scarring. Unfortunately, very little is known about the chemical mechanisms which are
responsible for this distressing situation.
Prof Schor has previously identified a novel chemical factor, referred to as MSF, which
appears to play an important and hitherto unrecognised role in the control of both wound
healing and cancer development in healthy individuals. On the basis of available
information, the group believes that MSF may also play an important role in these two
disease processes in patients with RDEB. In order to test this possibility, this research
will measure MSF production by skin cells in RDEB patients in normal looking skin, as well
as areas of active wound healing, chronic ulceration, heavy scarring and skin cancers.
Comparative information will be obtained from healthy individuals in order to ascertain
how MSF expression may be altered in RDEB patients. Related laboratory studies will be
concerned with discovering means whereby doctors may be able to control (either switch on
or switch off) MSF expression in a manner which will simultaneously promote healthy wound
healing and prevent cancer development in RDEB patients. These novel means of therapy may
involve the application of active wound dressings, as well as the introduction of genes
into patient skin cells (ie gene therapy) which will either modify the expression MSF or
its activity.
This project brings together two groups, one in Dundee and the other in London, with
considerable expertise in the clinical care of RDEB patients and relevant areas of
scientific investigation.