| SUMMARY OF RESEARCH BEING UNDERTAKEN
Considerable progress has been made in understanding the
causes of EB. A fault in the gene causes the skin layers not to adhere. The different
forms of EB are the result of defects in different genes. Blisters develop due to
mutations in the genes that influence the way in which the layers of the skin are normally
held together. At present there are no effective treatments for any of the forms of EB.
This project concentrates on aspects of EB research that will have more
immediate benefits to families of EB sufferers. A key area for clinical research
development is prevention of disease through pre-natal testing.
Pre-natal testing for the severe, life threatening forms of EB has been available for
over 15 years through fetal skin sampled at 16-18 weeks. More recently a DNA based form of
pre-natal test, examining fetal DNA from chorionic villus samples at 10-11 weeks has been
available. Nevertheless, the lack of an effective treatment means that the only option for
an affected fetus is consideration of termination of pregnancy. This distressing scenario,
along with certain families cultural, ethical or religious beliefs has dissuaded many
couples at risk for further affected children from becoming pregnant.
This project aims to develop a practical approach to even earlier pre-natal diagnosis
through assessing the feasibility of preimplantation genetic diagnosis. This approach
involves testing an embryo when it is only 8 cells in size. It is then possible to
undertake a pregnancy using only unaffected embryos without the need for testing at a
later stage. This is a new and exciting development, and one which may benefit many
EB families planning further children. |
