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Epidermolysis bullosa simplex: doxycycline prolongs survival in disease mouse models Epidermolysis bullosa simplex (EBS) is a skin disorder caused by mutations in keratin K5 or K14 genes. It is widely regarded as a mechanobullous disease, resulting from a weakened cytoskeleton, causing extensive cytolysis. In this study, the authors analysed the transcriptome of K5-/- mice. They observed an increase in proinflammatory cytokines IL-6 and IL-1beta, which lead them to test the effect of doxycycline, a molecule known for its anti-inflammatory effect in mice. This molecule produced a downregulation of matrix metalloproteinase 13 and IL-1beta, indicating an effect on transcription. These data offer a novel small molecule-based therapy approach for EBS.J Invest Dermatol; 2781-2789 ; December 2007 |
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French company creates new mutation diagnostic software application France-based Interactive Biosoftware has developed a software application dedicated to mutation diagnostics. Alamut is constructed to rapidly and reliably interpret mutations by synthesizing relevant molecular data and prediction methods within a consistent environment. Alamut was developed in cooperation with the molecular genetic laboratory of the hospital of Rouen and is already being used by several diagnostic laboratories in France, the Netherlands and the Czech Republic. OrphaNews Europe; 16 January 2008 |
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Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells
Many Italian families, from all over the country, took part in the
press conference near the University of Modena, where Prof. De Luca and
his team have carried out the trial. On 19 November 2006 Nature Medicine, one of the most important scientific magazine, published the article related to Prof. Michele De Luca’s first, successful trial of gene therapy on an Italian patient affected by Junctional Epidermolysis Bullosa.The trial represents the proof of principle that a gene therapy can work on E.B. Photo: Prof. M. De Luca during his talk at the recent DEBRA AGM in Avignon (1-4 November 2007) |
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IMPORTANT CONTRIBUTION MADE BY DEBRA ITALY TO A SURVEY ABOUT THE QUALITY OF LIFE IN EB |