Pathway intervention therapy for EBS Dowling-Meara (Lane 3)Completed
|Project lead||Prof Birgitte Lane|
|Organisation||IMB - Institute of Medical Biology, Singapur, SINGAPUR|
|Project budget||USD 310,713.00|
|Start date / Duration||01. Apr 2013 / 24 months|
|Funder(s) / Co-Funder(s)||DEBRA Austria, MSAP/EBEP Recommended|
|Research area||Molecular therapy|
Publications related to the projectsA cell-based drug discovery assay identifies inhibition of cell stress responses as a new approach to treatment of epidermolysis bullosa simplex
Short lay summary
People with epidermolysis bullosa simplex (EBS), especially the severe Dowling Meara type, have very fragile skin that blisters easily on mechanical stress. Our lab has developed several disease model cell lines and cell culture stress assays which we have been using to study and model EBS in the lab, without the need for direct patient testing.
We discovered that EBS‐mimicking cells, that have the same disease‐causing keratin mutations as the patients, exist in a continuously stressed state, even before additional mechanical stress.
This led us to the idea of a mechanism that may directly link Dowling-‐Meara EBS mutations that cause damage keratin filaments inside the skin cells with the clustered and spreading blisters that affect the
We found evidence suggesting that if we could reduce the formation of the abnormal microscopic keratin lumps, or aggregates, that form inside EBS cells, we should be able to reduce the cell stress and return the skin cells to a much more resilient state.