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Rare diseases: Quicker therapy, expedited discovery

(Vienna 15-02-2016) A disease is considered rare if it does not affect more than one in 2,000 people. The total number of affected people is still considerable: approx. five to eight percent of the population suffers from one of these "rare" diseases; this concerns more than 400,000 Austrians. Research and treatment of these "rare diseases" is at the focus of CeRUD (Center for Rare and Undiagnosed Diseases) of MedUni Vienna and CeMM, which is one of the five leading centres in this special sector worldwide. The efforts of the researchers in Vienna were also successful in discovering rare diseases much quicker than in the past as well as treating them faster and in a personalised manner. The latest findings in this field will be discussed during a symposium with top-class international experts on 19 and 20 February 2016.

"Today, the time span from the discovery of a gene defect as cause of a rare disease and the research of its mechanisms through to a personalised therapy, is only a few months", says Kaan Boztug, Manager of the Vienna Centre for interdisciplinary research and treatment of rare and non-diagnosed diseases (Vienna Centre for Rare and Undiagnosed Diseases/CeRUD). CeRUD was founded in 2014 in cooperation with the University Clinics for Dermatology as well as Paediatrics and Adolescent Medicine of MedUni Vienna / AKH Vienna and CeMM Research Centre for Molecular Medicine of the Austrian Academy for Sciences was founded.

Drugs, which have already been used in the therapy of entirely different diseases, can be applied successfully for some of the rare diseases (off-label-use). "Research of rare diseases is thus a prime example for translational medicine", says Vice Principal for Research and Innovation at MedUni Vienna, Michaela Fritz. "This research has a very direct relevance for the patients."

International network and exchange of bio data increases the discovery
On the other hand, researchers today are able to discover still unexplored rare diseases at increasing speed. "This is also facilitated by the network coordinated from Vienna on many sectors and the worldwide exchange of biodata made possible by new software, the so-called standardised phenotyping", explains Boztug, who will also manage the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases. "Vienna is a hotspot for the research of rare diseases."

On the occasion of the annual world day of rare diseases on 29 February 2016, the first CeRUD symposium shall be conducted in Vienna from 19 to 20 February 2016 in order to further reinforce this network and the top position of the Vienna researchers. The internationally leading heads in the field of rare disease research shall be coming to MedUni Vienna in order to discuss new concepts in research and therapy of these illnesses.

Event: 1st Symposium of CeRUD

Place: Van Swieten Saal of MedUni Wien, Van-Swieten-Gasse 1a, 1090 Vienna. Further information: www.meduniwien.ac.at/cerud. Interviews with the experts can be arranged in advance. Contact for media: Wolfgang Däuble, wdaeuble@cemm.oeaw.ac.at, Tel: 01/ 40 160 70057 Among others, William Gahl (Director of the NIH Undiagnosed Diseases Program, Bethesda, USA), Alain Fischer (IMAGINE Institute Paris, FR) Anthony J. Brookes (University of Leicester, UK), Dimitri Krainc (University of Chicago, Chicago, USA), Paul Lasko (International Rare Diseases Research Consortium IRDiRC, Montréal, Canada) and Holm Uhlig (University of Oxford, Oxford, UK) have confirmed their attendance.


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