Molecular Therapy for Genodermatoses

Epidermolysis Bullosa (EB) is a genodermatosis caused by mutations in genes that code for structural proteins of the skin. When these structural proteins are impaired in quality or quantity, or entirely absent, even the slightest mechanical stress can lead to blistering of the skin and, in some cases, the mucous membranes.

The program aims to develop effective, evidence-based clinical strategiesto improve the quality of life for patients with epidermolysis bullosa (EB). This includes therapies targeting key pathobiological processes of EB, as well as molecular diagnostic tests for accurate disease assessment and informed treatment decisions. The primary goal is a cure through genomic correction of the genetic defect in every cell of the patient's body. The implementation of gene-editing technologies has already led to significant progress.

In addition to skin fragility, EB can cause both local and systemic complications. In recessive dystrophic EB (RDEB), chronic wounds, itching, and pain are major complications that severely affect quality of life. These wounds can develop into life-threatening squamous cell carcinomas, further worsening quality of life and reducing life expectancy.

The research focuses on uncovering unknown factors that contribute to chronic wounds, malignant transformation, and tumor progression. This knowledge will be leveraged for diagnosis and therapy to address the challenges of wound healing and cancer in EB patients.