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Orphan diseases are rare, but not uncommon. Defined as having a prevalence of less than 1 in 2,000 people, over 5,800 orphan diseases have been identified to date and affect up to 400,000 patients in Austria. In approximately 80% of cases, the cause is genetic. The national website of the international Orphanet project is a portal for rare disease and orphan drug information in Austria. Orphanet provides rare disease inventory and nomenclature, classification, cross-referencing, expert resources, a disease encyclopedia, reference databases for genetic testing in Europe, clinical/emergency guidelines and monitors orphan therapeutic development. This project aims to continuously expand and update Orphanet to provide freely accessible, multilingual services for both patients and professionals.

In a research environment, next generation sequencing platforms combined with traditional methods of DNA analysis, bioinformatics and population genetics are being utilized to identify mutations in known and novel genes associated with autosomal recessive and dominant orphan diseases.

Preclinical, genetically modified, autologous cellular transplantation models are currently under development as novel therapeutic strategies.