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A Focus Theme Issue on rare and undiagnosed skin diseases

New scientific publication with EB House contribution

The renowned journal Experimental Dermatology recently devoted a Focus Theme Issue to the rare and undiagnosed skin diseases. This special edition contains a collection of scientific studies on selected rare diseases of the skin, amongst them EB, and demonstrates the tremendous progress of research on rare genetic and autoimmune skin diseases made so far, but also the many open questions that still have to be adressed.
Unfortunately, people suffering from rare skin diseases are still confronted with limited access to specialists, diagnosis and therapies. International organizations and health authorities have recognized these deficiencies and have reacted by launching initiatives that aim to ameliorate the situation for these patients.
In early 2017, the European Skin Reference Network (ERN-Skin) consisting of 56 expertise centers, including the EB House Austria, was established. The purpose of the ERN-Skin is to improve the clinical management of patients with rare skin diseases across Europe by creating a clear structure for the exchange of information and competences.
Other initiatives to increase the availability of treatment for patients with rare diseases has been set already in the 80ies by international health authorities. Thus, the orphan designation program provides the pharmaceutical industry with economic incentives for the development of drugs for rare diseases. This action has been successful, since orphan drugs now make up almost a third of the drugs that are brought to the market each year. In addition, an international rare disease research consortium (IRDIRC) has been set up with the aim to significantly reduce the time to diagnosis of rare diseases and to develop 1000 new therapies by 2027. Many of these goals have already been achieved through the enormous progress made in research of rare skin diseases in the past few years.

Dermatologists from Austria and France have summarized the findings of the collected studies published in this Special Issue in a short accompanying article. The manuscript emphasizes the importance of exploring rare and undiagnosed skin diseases, as these offer new insights into fundamental biological principles, which in turn contribute to a significant improvement in the clinical care of affected patients.

To access the full article please click here.


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