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MedUni Vienna declares war on congenital disorders of the immune system

According to epidemiological estimates around 2,000 Austrians suffer from a primary immune deficiency disease (PIDD), a congenital and in part genetically-determined disorder of the immune system. Only about 400 of them are currently undergoing treatment, as awareness of the possibility of such a disease is still very low. The MedUni Vienna is now on the trail of these immune deficiency diseases in a new centre now being opened: in the Jeffrey Modell Diagnostic and Research Center Vienna, the emphasis will be on driving forward the research, diagnostics and treatment of these diseases – in Europe around 1.5 million people are affected.

(Vienna, 22nd January 2014) According to epidemiological estimates around 2,000 Austrians suffer from a primary immune deficiency disease (PIDD), a congenital and in part genetically-determined disorder of the immune system. Only about 400 of them are currently undergoing treatment, as awareness of the possibility of such a disease is still very low. The MedUni Vienna is now on the trail of these immune deficiency diseases in a new centre now being opened: in the Jeffrey Modell Diagnostic and Research Center Vienna, the emphasis will be on driving forward the research, diagnostics and treatment of these diseases – in Europe around 1.5 million people are affected.

Primary immune deficiencies can cause severe infections. The earlier the deficiency is identified, the easier lifelong organ damage, such as chronic changes in the lungs, can be prevented, and the easier the quality of life of those affected can be improved.

Perfect interplay between research and clinic
"Those affected often suffer from repeat infections for years and run from one doctor to the next, without anyone really being able to help them in any lasting way because they are suffering from a so far undiscovered immune deficiency, or one that has not been diagnosed, for this reason the new centre is the right port of call," says Elisabeth Förster-Waldl, paediatrician and immunologist at the MedUni Vienna.

The centre is based at the University Department of Paediatrics and Adolescent Medicine at the MedUni Vienna at the Vienna General Hospital and the St. Anna Children’s Hospital, and works in close collaboration with the Research Centre for Molecular Medicine of the Austrian Academy of Sciences. "With the new centre it will be possible to let the research findings flow into clinical practice immediately at the clinic, this is the textbook example of the excellent interplay between research, diagnostics and clinic at the MedUni Vienna, the Vienna General Hospital and the CeMM," adds Kaan Boztug, paediatrician and immunogeneticist at the University Department of Paediatrics and Adolescent Medicine and research group leader at the CeMM.

Despite the multiplicity of immune deficiencies already known, a considerable number of patients remain without a diagnosis. In these cases, genetic methods such as so-called "next generation sequencing" will then be used. Here, genomes can be sequenced within a few days with the latest technologies and so far completely unknown genetic causes of congenital immunity deficiencies even be identified. This molecular finding is also the basis for the development of new therapies.

Indications of an immune deficiency exist when the person affected is prone to getting infections more frequently than is consistent with their age, and perhaps has increased pneumonia, meningitis and middle ear inflammations, or chronic fungal and skin infections. Amongst the warning indications of an immune deficiency is also an unusual combination of autoimmune symptoms plus allergies. The diagnosis of these disorders is complex; one reason for this is that there are now more than 200 molecularly defined disorders.

Eminent expert panel for the opening
The Jeffrey Modell Diagnostic and Research Center Vienna will be opened on 24-25 January in the lecture theatre centre at the south garden of the MedUni Vienna with a kick-off event. Amongst other events, lectures will be given by international top experts such as Georg Holländer (Basel and Oxford Universities), Tim Niehues (Krefeld Centre for Paediatrics and Adolescent Medicine) and Klaus Warnatz from the Center for Chronic Immune Deficiency (Freiburg University Hospital). MedUni’s Vice-Rector Wolfgang Schütz will be giving the welcoming address. The centre at the MedUni Vienna is the first university centre in Austria to be actively working together with the New York Jeffrey Modell Foundation, which has been working on immune deficiency disorders for almost 30 years.

Time and date: Jeffrey Modell Diagnostic and Research Center Vienna – Kick Off
Kick-off symposium on Friday, 24 January (3 – 6:30 pm) and 25 January 2014 (9:30 am – 1 pm) in the lecture theatre centre of the MedUni Vienna, Clinics at the South Garden, Währinger Gürtel 18-20, 1090 Vienna. Please register. All information on the programme and registration: www.meduniwien.ac.at/ccid.