Rare Disease Day is the last day in February. On this day, information is provided about isolated diseases that affect around 5 percent of Austrians altogether. This year Graz has a special reason to celebrate because of the establishment of the University Center for Rare Diseases, a competence center that pools expertise from different disciplines so it can become a hot spot for research and offer the best possible care for patients.
One center for pooled expertise
A rare disease is a disease that affects fewer than one person in every 2,000 people. 80% of them are genetically determined; the rest are autoimmune and rare infectious diseases. Advances in human genetic analysis have drastically reduced the time to a correct diagnosis and pioneering research has yielded new treatment options for many diseases. The University Center for Rare Diseases pools the competence of nine expertise centers of University Hospital Graz and Med Uni Graz to produce the best results in both research and patient care and to translate research findings into patient care as rapidly as possible.
The centers have their say
The expertise centers united in the University Center for Rare Diseases cover a broad spectrum—from rare eye diseases to congenital malformations and hereditary tumor syndromes to rare lung disease, sarcomas and hereditary metabolic disorders. They combine highly specialized diagnostics, interdisciplinary therapy, international networking and innovative research with the common goal of continually improving care for patients with rare diseases.
Rare eye diseases: International research and specialized care
The Med Uni Graz Department of Ophthalmology is an expertise center for the entire spectrum of rare eye diseases. Over 1,700 patients with rare eye diseases receive treatment there every year. The center is well integrated into European networks and actively involved in a number of international studies in order to provide patients with access to the most innovative therapeutic approaches and to intensively promote scientific progress.
Congenital malformations and vascular tumors in childhood: interdisciplinary care from the very start
Two expertise centers have been established at the Department of Paediatric and Adolescent Surgery: one for congenital intestinal malformations and one for vascular tumors in childhood and adolescence. The centers provide precise diagnosis, individual therapy planning and structured long-term care. Through their integration in international networks, both centers actively participate in scientific projects.
Hereditary tumor disposition: prevention and genetic clarification
The expertise center for hereditary tumor disposition at the Diagnostic and Research Institute of Human Genetics is involved in the diagnosis and clarification of hereditary tumor syndromes for patients in southern Austria. In suspected cases, an individual risk assessment is conducted and preventive and therapeutic measures are discussed. The center recorded around 1,500 outpatient clinic visits and inquiries last year.
Rare lung diseases: research for new therapy options
With its emphasis on pulmonary arterial hypertension, the expertise center for rare lung diseases is well integrated into international networks and regularly initiates translational and clinical trials to improve treatment options for patients with pulmonary hypertension.
Sarcomas and rare tumors: specialized oncologic expertise
The national expertise center for bone and soft tissue tumors at the Med Uni Graz Department of Orthopaedics and Trauma is a leader in caring for sarcoma patients and carrying out research on these diseases. The center focuses on intensive interdisciplinary work with participating medical partners based on internationally recognized guidelines and obtaining new scientific findings with regard to cancer.
Hereditary metabolic disorders: high-level diagnostics and monitoring
The MetabERN center of the Department of Paediatrics and Adolescent Medicine is concerned with hereditary metabolic disorders, their diagnosis and therapy. In the Analytical Mass Spectrometry, Cell Biology and Biochemistry of Inborn Errors of Metabolism research unit, further indicators of this type of disease are examined in order to optimize the monitoring of patients.
A great leap forward
Specific, cause-related therapies are currently available for only around 20% of rare diseases. This includes a personalized choice of medication, for example for severe genetic epilepsies, gene therapies or gene editing therapies. Thanks to innovative procedures made possible by research and expertise pooled in centers like this one, more and more patients with rare diseases are reaching an advanced age. For rare tumors and leukemia, new cancer immunotherapies that frequently require treatment at a specialized center are available as well.
International collaboration in networks also facilitates access to innovative therapy trials. Data collection in European registers helps to expand knowledge of rare diseases. In the area of science, the departments and divisions at University Hospital Graz are closely involved with the preclinical divisions and institutes in different research areas and the Med Uni Graz Center for Medical Research (ZMF). Their translational approach enables quick implementation of basic research findings for improved patient care.
