EB Expertise

Building on 20 years of EB expertise

EB research in Salzburg began in 1992 at the Department of Dermatology, LKH University Hospital. Early work on antigen mapping formed the basis for improved EB diagnostics, soon followed by the founding of DEBRA Austria in 1995. Since then, our EB expertise has grown steadily - from establishing mutational analysis and exploring gene therapy through RNA trans-splicing, to developing new approaches focused on cancer, wound healing, inflammation, and small molecule therapies.

In 2011, the dedicated EB Clinic was established, enabling close interaction between research and patient care. This included the first clinical pilot study with diacerein for EBS patients. NGS-based diagnostic testing followed in 2013, further strengthening our precision medicine efforts.
Over the years, fundamental research was expanded with the creation of a humanized EB mouse model and a comprehensive EB biorepository. Additionally, numerous clinical studies have been conducted, including Austria’s first gene therapy trial for JEB patients and a vitamin D study supporting wound healing in DEB. Most recently, in-house single-cell RNA sequencing mark the next steps in our mission to develop better treatments and improve the lives of people with EB.