Even though the number of patients with each individual condition is small, the overall number of people affected is considerable: around five to eight per cent of the population have one of these “rare” diseases, equivalent to 27 million Europeans, including more than 400,000 Austrians. According to estimates, there are around 6,000 to 8,000 different rare or undiagnosed diseases in total.
In cooperation with the University Departments of Dermatology as well as Paediatrics and Adolescent Medicine at the MedUni Vienna / Vienna General Hospital and the CeMM Research Centre for Molecular Medicine at the Austrian Academy of Sciences, a new centre for the interdisciplinary research and treatment of these rare and undiagnosed diseases has now been set up (Vienna Centre for Rare and Undiagnosed Diseases / CeRUD). The opening symposium for experts, sufferers and interested individuals will be held at the MedUni Vienna on the 28th of February, World "Rare Diseases" Day.
Affected people are often desperate
“Rare diseases are not rare, but are in fact a common factor in our clinical work,” says Kaan Boztug, who is head of the CeRUD and works at the CeMM and the University Department of Paediatrics and Adolescent Medicine.
The newly founded centre will bring together resources and expertise in order to offer affected individuals a point of contact for the best possible care: “Many affected people feel desperate and have already come a very long way without ever receiving an accurate diagnosis or formal treatment. We want to be their first port of call.” The “Undiagnosed Diseases Program (UPD)” set up by the National Institutes of Health (Bethesda/USA), with which the Vienna centre will be collaborating, provides a template for this resource.
New genetic defect responsible for chronic bowel disease discovered
The centre and the pooling of activities may be new, however the subject of rare diseases is not new for the MedUni Vienna / Vienna General Hospital and the CeMM. The group of researchers led by Boztug has just discovered a new genetic defect responsible for a monogenetic form of an inflammatory chronic bowel condition that is also combined with an immune deficiency. In earlier research work, for example, a previously unknown B-cell deficiency was discovered from which a 13-year-old patient had suffered since early childhood and which had not been diagnosed. The consequence was severe autoimmunity that can now be treated more effectively. In another project, Boztug has been able to explain a previously unknown form of immune deficiency by the lack of a specific type of white blood cell (neutrophilic granulocytes).
Date for the diary
“Centre for Rare and Undiagnosed Diseases Vienna” opening symposium at the MedUni Vienna on 28 February 2014, admission free
The opening symposium of the “CeRUD Centre for Rare and Undiagnosed Diseases Vienna” is to be held at the MedUni Vienna on 28 February 2014 (9.30 a.m., Jugendstilhörsaal at the MedUni Vienna). Sufferers and interested individuals are able to participate free of charge in the presentations by leading experts in the fields of medicine and research. Further information: www.meduniwien.ac.at/cerud.
Date for the diary
“March for rare diseases” on 1 March 2014
A day of action is being held for rare diseases in Austria on 1 March 2014. A “March for rare diseases” is being held departing from the Staatsoperweg (meeting point: Opernring 2, 1010 Vienna at 10.30 a.m. / start 11.00 a.m.). The march will end in the Museums quarter (12.00 p.m.). Information: http://www.rarediseaseday.org/event/austria/87.