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Big Data and rare diseases: Global data exchange makes for faster and more accurate diagnosis

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(Vienna, 21 February 2018) If a rare disease is diagnosed for the first time at one of the competent centres such as the CeRUD Vienna Center for Rare and Undiagnosed Diseases of MedUni Vienna and CeMM, then – as the name suggests – there is very little data about this disease available for researchers. The global exchange of Big Data is therefore particularly important in the case of "Rare Diseases". In future, specially developed ontologies, that is to say standardised global disease-related terminologies, will facilitate anonymous online data exchange.

"This will make it possible in future to understand a disease more quickly, more accurately, in a more personalised way and to develop appropriate treatments," explains Kaan Boztug, expert in rare diseases at MedUni Vienna, the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD), CeMM (Austrian Academy of Sciences' Research Center for Molecular Medicine) and St. Anna Children's Hospital. 

A disease is classed as rare if it affects fewer than one in 2,000 people. Nonetheless, the total number of people affected is considerable: around 5 – 8% of the population suffer from one of these "rare" diseases, accounting for more than 400,000 people in Austria. Rare Disease Day will once again take place on 28 February to raise public awareness and educate people about rare diseases.

On a global hunt for genetic matches
In information science, an "ontology" is "a standardised language spoken by people and computers, which can be accurately translated into the respective "mother tongue", explains Christoph Bock, Head of the Bioinformatics Research Group at LBI-RUD. "Using ontologies, it is possible to code definitions and data of certain diseases worldwide, in exactly the same way in any language, so that data can be overlain and compared," says Boztug. It is then possible to search for, and automatically find, matches for genotypes or even phenotypes (physical expressions) of a disease. "If I am working on gene X in Vienna and enter my results into the system and a researcher in Japan has also entered results relating to this same gene, we will both receive a notification." A similar type of data exchange is also to be set up for information about treatments that have been successful – or even unsuccessful. 

There are currently assumed to be around 7,000 – 8,000 rare diseases and numerous ontologies already exist for most of these – albeit of variable quality. Says Boztug: "We still need to refine the system, so we can make better use of the data to provide personalised treatment." MedUni Vienna's CeRUD and LBI-RUD are world leaders in precisely this field: Boztug himself is head of the Genetics Working Group of the European Society for Immunodeficiencies (ESID) and works closely with the corresponding European reference network RITA. However, Boztug points out that there is still a need to catch up as regards the definition of "ontologies" for immunodeficiencies.

Workshop on Rare Diseases and Big Data
A specialist conference, taking place on Thursday and Friday (22/23 February) in the Josephinum (Währinger Straße 25), is dedicated to the opportunities and challenges presented by Big Data in relation to research into rare diseases, from different (scientific) perspectives and formats. The "Rare Diseases and Big Data – Hopes, Opportunities and Challenges" workshop led by Christiane Druml, Director of the Josephinum and Head of the Bioethics Working Group at LBI-RUD, kicks off on the first day with a keynote address and a panel debate, the second day will comprise lectures by international experts, to allow discussion about the challenges and opportunities presented by Big Data in the context of rare diseases on a medical, sociological and bioethical level.

The event is a joint venture between MedUni Vienna and LBI for Rare and Undiagnosed Diseases, CeRUD Vienna Center for Rare and Undiagnosed Diseases, the Austrian Academy of Sciences' CeMM Research Centre for Molecular Medicine and the UNESCO Chair in Bioethics at MedUni Vienna. For more information:

And Pro Rare Austria's event "Dialog der seltenen Erkrankungen" [Rare Diseases Dialogue] will take place – under the academic supervision of MedUni Vienna – on 3 March (13:00 -16:00 hrs, Museumsquartier, 1070 Vienna).