The importance of model systems for EB research
New scientific publication from the EB House
In the last decade, enormous progress has been made in EB research, which is mainly due to the establishment of model systems. EB models recapitulate hallmark characteristics of the disease, and can thus provide insights into the underlying mechanisms. Many of these models also allow to evaluate therapeutic strategies.
In a review article, EB House researchers summarized currently available EB models, and discussed their advantages and limitations. Here we give a short overview of the most relevant EB model systems used to explore major aspects of EB and therapeutic applications in the laboratory.
EB skin cells
Patient’s own skin cells represent the most vital tool to determine key molecules for disease progression and to identify mechanisms associated with cancer. EB cells are also used to establish different types of repair strategies. However, the availability of EB skin cells for laboratory experiments is limited. On the one hand, because not all patients consent to the painful skin biopsy procedure for obtaining the cells, and on the other hand, because EB skin cells have a limited lifespan in culture.
To overcome this limitation, skin cells can be reprogrammed into special stem cells (iPS), which have the capacity of endless selfrenewal. IPS cells can be turned again into skin cells for research purposes, but they no longer show all natural properties. In order to increase access to EB cells, less invasive methods are under development, allowing to harvest skin cells from hair follicles or used wound dressings.
Three-dimensional skin cultures
The generation of a 3D skin using upper and lower skin cells in a matrix, has become a standard technique in EB research. This artificial skin resembles in many ways natural skin tissue and can thus be used for testing therapeutic outcomes, such as deposition of the corrected protein between the skin layers. However, the currently used 3D skins are not adequate as cancer and wound healing models, or for testing systemic delivery of drugs. These approaches need more realistic skin containing immune cells and blood vessels.
In silico models
In silico means that experiments are performed via computer simulation. Using a large collection of data from various studies allows prediction of disease progression and treatment outcomes, and identification of potential drugs. Up to now only few data are publicly available and the way they are generated is not standardized. At present, it is thus challenging to combine data of different studies.
The ongoing efforts to generate improved EB model systems gives hope for the rapid development of therapies and drugs for EB.