(Vienna, February 26, 2026) More than 10,000 patients with rare diseases are treated annually at the University Departments of MedUni Vienna and University Hospital Vienna - many of them with long periods of suffering, delayed diagnoses, and limited treatment options. On Rare Disease Day on February 28, 2026, the Medical University of Vienna and University Hospital Vienna will demonstrate how the close link between clinical care, research, and interdisciplinary collaboration is continuously advancing the care of people with rare diseases.
More than 3,000 different rare diseases (affecting fewer than 1 in 2,000 people in the population) were treated by medical experts at the University Departments of MedUni Vienna and University Hospital Vienna in 2025. Patients are treated in specialized, nationally recognized centers of expertise, brought together in the Comprehensive Center for Rare and Undiagnosed Diseases (CCRUD) of MedUni Vienna and University Hospital Vienna. The close organisational link between clinical care and research makes it possible to translate unanswered medical questions directly into scientific projects. Scientific activity is correspondingly high: 150 publications were devoted to rare diseases last year. "Rare diseases pose particular challenges for patients, physicians, and researchers. This makes it all the more important to closely link medical care, research, and interdisciplinary expertise. This is the only way we can make diagnoses earlier and apply and co-develop new treatment options," says Susanne Greber-Platzer, Head of the CCRUD and the Department of Pediatrics and Adolescent Medicine at MedUni Vienna and University Hospital Vienna. Seventy-five percent of rare diseases are congenital and therefore predominantly affect children, which means that pediatrics cares for a particularly large number of patients.
Current studies on rare diseases
Recently published studies illustrate this translational research approach at MedUni Vienna: Researchers at MedUni Vienna recently demonstrated that young people with the rare respiratory disease primary ciliary dyskinesia show changes in bone structure despite unremarkable standard examinations. These findings provide important new insights for a more comprehensive understanding of the disease and may have a long-term impact on prevention and monitoring strategies.
MedUni Vienna's research is also contributing to new findings in the field of cardiac amyloidosis, a rare and often late-diagnosed disease of the heart muscle. High-resolution cardiac MRI examinations have shown that even the smallest changes in heart tissue can predict the course of the disease more reliably than many classic clinical parameters. These findings are highly relevant for treatment decisions and for the survival of those affected.
Further research is focusing on rare bone diseases and high-resolution imaging in classic galactosemia, a congenital metabolic disorder in which persistent neurological changes can occur despite lifelong dietary restrictions. Current studies at MedUni Vienna are also providing evidence of promising initial therapeutic approaches for Alström syndrome, an extremely rare genetic multisystem disorder. Diagnostic issues, such as those associated with the genetic metabolic disorder Pompe disease, can also be increasingly better resolved through interdisciplinary and genetic approaches.
Working with Pro Rare Austria to improve networking
MedUni Vienna and University Hospital Vienna support the objectives of the Austrian National Action Plan for Rare Diseases, which aims to improve coordination, care, and networking for those affected. A key partner in this is Pro Rare Austria, the nationwide umbrella organisation for patient organisations and self-help groups in the field of rare diseases. Pro Rare Austria represents the concerns of around 450,000 people affected in Austria and draws attention to structural challenges, such as the lack of coordination between medical disciplines. The aim is to improve the care, networking, and visibility of rare diseases in the long term.