| SUMMARY OF RESEARCH BEING UNDERTAKEN
INTRODUCTION
Epidermolysis Bullosa - EB is the name given to a group of genetically
inherited skin blistering conditions. A fault in the genes means that the layers of the
skin do not adhere. The result is blistering and shearing of the skin from even the
gentlest friction and sometimes even spontaneously.
The many forms of EB fall into three major types: Simplex, Dystrophic and Junctional.
These vary from relatively mild to incapacitating, crippling, and sometimes fatal
disorders. EB is always painful, and in most cases lead to increasing deformity and
disability.
Research in Scotland estimates the prevalence of EB to be 1 in 17,000. However
extensive research in the USA may indicate the prevalence to be of the order of 1 in
10,000 - over half a million world-wide.
The blisters and scarring caused by EB occur continuously throughout life. Currently
there are no effective treatments for EB.
Genetics
There are estimated to be over 4000 different genetic conditions. Some like EB or
Cystic Fibrosis are genetically inherited. Others like some cancers can result from genes
failing to reproduce themselves exactly and develop during life.
EB can be dominantly or recessively inherited. EB Simplex is the largest group, and is
almost exclusively dominant; one parent being affected and the risk in pregnancy being
1:2. Junctional EB is the most serious form and is recessively inherited; both parents are
healthy carriers and the risk in every pregnancy is 1:4. Dystrophic EB can be either
dominant or recessive. In common with other genetic problems the dominant form is
generally milder.
The pictures in the enclosed DebRA brochures and reports can only give a glimpse of the
devastating nature of this range of conditions. They cannot show the continual pain and
anguish that sufferers and carers live with every day, or the terrible discrimination and
appalling quality of life the majority are forced to bear.
Increasingly there is significant overlap of research into EB with that into other
conditions including cancer, auto immune diseases and wound healing.
SUMMARY
DebRA has funded the appointment of the DebRA Fellow since 1990. The
aim is to attract high calibre young doctors into the field of dermatology and clinical
and scientific research into EB. This continues to be successful in providing the
profession with a real understanding of the problems associated with EB, and conversant
with developments in clinical and scientific research.
Previous DebRA Fellows are:
1990 - 1992 Dr Adrian Heggarty; presently at Birmingham Children's Hospital where there
is a regular EB Clinic.
1992 - 1994 Dr John McGrath; now a Senior Lecturer at St John's Institute of
Dermatology and a leading expert in EB research and holder of several DebRA Research
Grants.
1994 - 1996 Dr Giles Dunnill; currently a Dermalologist at Bristol University and was a
keynote speaker at the 1998 DebRA Conference.
1996 - 1998 Dr Jemima Mellerio who is just completing her Fellowship.
Under the selection and supervision of Prof Robin Eady who is widely regarded as the
the UK's leading authority on EB, the DebRA Fellow will undertake clinical and research
studies that will be of benefit to people with all forms of EB and their families.
Specific roles will include optimising inpatient and outpatient care, liaising with DebRA
support staff, providing accurate and responsible information for personnel concerned with
the management of EB, and carrying out laboratory work.
The laboratory work will involve establishing a laboratory-made model of EB skin which
will provide a basis for discovering more about the altered behaviour of EB skin cells.
The skin culture system will also provide a platform for future research involving the
replacement of inherently defective skin genes with engineered copies of the equivalent
normal gene.
At present there is no specific treatment for EB, but establishing the cultured skin
models outlined in this project is expected to help with the development of new forms of
treatment, including gene therapy. DebRA recognises that a strong collaboration between
patient and professional is crucial for this rare set of genetic conditions. |
