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Big genomic data visualization
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Translational Genomics Big Data at Your Bedside

Analysis of genes can help in detecting diseases at an early stage as well as in determining new drug targets for therapy. Thanks to extremely powerful data processing, the field holds great promise for advancement. Helmholtz Munich is particularly at the cutting edge in the use of these new methods.

Analysis of genes can help in detecting diseases at an early stage as well as in determining new drug targets for therapy. Thanks to extremely powerful data processing, the field holds great promise for advancement. Helmholtz Munich is particularly at the cutting edge in the use of these new methods.

The secret weapon with which the researchers at the Institute for Translational Genomics (ITG) are targeting diseases is massive amounts of data. If you walk down the long corridors of the institute in Neuherberg, you do not see white coats and high-tech laboratories; rather you see huge screens on which the scientists are deploying complicated calculations that take place on highly efficient computers. This is where the information gleaned from molecular, genomic and epidemiological studies collates and can now be examined for predictive patterns as if viewed under a high-resolution magnifying glass.

The search for a needle in a haystack

"We are looking for patterns in the large-scale genomic data we generate," explains Institute Director Eleftheria Zeggini: "We are interested in finding patterns that are associated with susceptibility to or protection against complex human diseases or their complications." What they are doing here is akin to searching for a needle in a haystack - although haystack is more or less an understatement: There are unfathomable amounts of data accumulating here. In a current study, for instance, they are examining the DNA of 470,000 patients and comparing the genetic characteristics with those of 1.5 million healthy people from the control group - and for each of these approximately two million subjects, there is a myriad of information available from the genetic material. Without the help of high-performance computers, the work of Zeggini and her team would be unthinkable, and we indeed have as many experts in computer science and mathematics working here at the Institute as there are in the field of life sciences. Together they are taking on the challenge of proving that Big Data offer invaluable potential in health research.

SMS - Schwanke meets Science: Big Data in Medicine (only in German)

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Focus on Complex Diseases

In her work, Eleftheria Zeggini focuses on two diseases: Type 2 Diabetes and Osteoarthritis. Both are common diseases from which millions of people suffer in Europe alone - and both are what are known as complex diseases. "This means that multiple different factors interact in the development and progression of the disease," elaborates Zeggini: "On the one hand, there is a genetic predisposition, and on the other hand, there are environmental risk factors."

Translational Genomics - From Research to Clinical Practice

The term "translational" from the name of the institute is part of the programme: It refers to the transfer of research results into clinical practice. Zeggini and her team cover a wide spectrum of work ranging from basic research to actual application.

Translational genomics has made enormous progress in recent years. It benefits from technological advances, both in terms of generating big data (sequencing technologies) and in terms of analysing these data (applied artificial intelligence, computational genomics). An especially contributing factor to the success of translational genomics at Helmholtz Munich is the dense ecosystem on site. In professional circles, this is the term used to describe the collaboration of top-class researchers from related fields. At Helmholtz Munich, there are several institutes conducting research on common diseases such as Diabetes - but with a different focus than that adopted by Eleftheria Zeggini's team with their Big Data approach. Other institutes are also working with large amounts of data, albeit with a focus on other diseases. Through regular interaction among all these researchers, sparkling ideas and vital impulses are generated time and again. The infrastructure should also not be overlooked: Without the high-tech laboratories that obtain the valuable genetic data from samples of subjects, the research would simply not be possible either.

Cooperation is Key

In order to place their research on as stable a foundation as possible, the scientists from Munich build international networks. In the field of Osteoarthritis, for example, Eleftheria Zeggini is the chair of an international association in which researchers from all over the world have joined forces. The large number of data from 470,000  patients can only be achieved through this kind of cooperation - and the higher the volume of data collected, the more meaningful the results will be.

In their search for the needle in the haystack, the researchers are looking across the whole genome. "After all, we do not merely aim to confirm what we already suspect, but to unearth new things," comments Zeggini.

The scientist

Eleftheria Zeggini Portrait

Eleftheria Zeggini

Director, Institute of Translational Genomics View profile