Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Computational biologists from Saarbrücken simplify diagnosis for hereditary diseases

29.07.2014

In the case of a cough or a sore throat, the doctor can usually diagnose a common cold immediately.

However, the diagnosis of hereditary illnesses like cystic fibrosis, which affects the metabolism, or Huntington’s disease, which leads to cognitive decline, is much more complex. A patient may suffer from a multitude of symptoms, pointing to several different diseases.

This can now be remediated using a program developed by bioinformatics experts from Saarbrücken, which is now also available as an app. With the aid of this application, physicians can discover patients’ afflictions quickly and without great research effort.

The computing method that the program is based on compares different patterns of hereditary diseases from an extensive online database and weights them by their likelihood.

Diseases like diabetes, epilepsy, a heart defect or deafness can themselves be symptoms of a range of hereditary diseases. „That makes it so difficult for medical specialists to diagnose someone with the correct disease from the beginning“, says Marcel Schulz, who is leader of the research group „ High-throughput Genomics & Systems Biology“ at the Max Planck Institute for Informatics and also a researcher at the Cluster of Excellence „Multimodal Computing and Interaction“.

„Additionally, each disease appears with different characteristics in different patients“. In the case of a heart defect, for instance, the patient may not only be afflicted by the defect itself, but could also be suffering from the Miller-Dieker syndrome or Cat eye syndrome, depending on the patient’s other symptoms.

Together with physicians and computational biologists from the working group of Professor Dr. Peter Robinson at the Charité clinical center in Berlin, Schulz has developed the program „Phenomizer“, which can be used by doctors to discover what the patient is afflicted with. This approach can be used for various hereditary illnesses like trisomy 21, Morbus Wilson or the Marfan syndrome.

„We are using an extensive online data base developed at Charité, called the ‘Human Phenotype Ontology’,,which lists more than 10 000 disease characteristics structurally and assigns them to 7500 diseases“, explains Schulz.

The computing method scans, compares and weights the data related to the symptoms the user provided, and then assigns these characteristics to certain diseases. Within seconds, the doctor receives a list with the most probable results. The advantage of the program is clear to Schulz:

„The doctors no longer have to research in databases or books for several hours. The list supports them in detecting the disease more quickly. Moreover, doctors can ask patients about their symptoms in greater detail. This makes it easier to assess which aspects they need to pay attention to.

The Phenomizer program has recently been made available online as an Android version for smartphones and tablets. It can be downloaded for free from the „Google Play“ platform. „We developed the app together with six different computer scientists from Saarbrücken“, explains Schulz. The students created the app within the context of a software engineering course at Saarland University.

The Phenomizer app is available for free on Google Play.

Background information about Computer Science research at Saarland University
The Department of Computer Science represents the center of Computer Science research in Saarbrücken. Seven other internationally renowned research institutes are nearby: The Max Planck Institutes for Informatics and for Software Systems, the German Research Center for Artificial Intelligence (DFKI), the Center for Bioinformatics, the Intel Visual Computing Institute, the Center for IT Security, Privacy and Accountability (CISPA), and the Cluster of Excellence “Multimodal Computing and Interaction”.
See more at: http://www.mmci.uni-saarland.de/en/news/article/?article_id=233#sthash.7RgThJfj....

The app is available at:
https://play.google.com/store/apps/details?id=com.charite.phenomizer&hl=de

Further information:
The program Phenomizer online:
http://compbio.charite.de/phenomizer/

Publications:
Exact Score distribution computation for ontological similarity measures, Schulz et al., BMC Bioinformatics 2011
http://www.biomedcentral.com/1471-2105/12/441

Clinical diagnostics in human genetics with semantic similarity searches in ontologies, Köhler et al. The American Journal of Human Genetics 2009
http://www.sciencedirect.com/science/article/pii/S0002929709003991

A press picture is available at: www.uni-saarland.de/pressefotos
Please pay attention to the terms of use.

Press inquiries:
Dr. Marcel Schulz
Computational Biology and Applied Algorithms
Max Planck Institute for Informatics
Phone: +49 681 93253115
Mail: mschulz@mpi-inf.mpg.de

Editor:
Gordon Bolduan
Science Communication
Competence Center Computer Science Saarland
Mail: bolduan(at)mmci.uni-saarland.de
Phone: +49 681 30270741

Weitere Informationen:

http://compbio.charite.de/phenomizer/

Friederike Meyer zu Tittingdorf | idw - Informationsdienst Wissenschaft

More articles from Information Technology:

nachricht NASA CubeSat to test miniaturized weather satellite technology
10.11.2017 | NASA/Goddard Space Flight Center

nachricht New approach uses light instead of robots to assemble electronic components
08.11.2017 | The Optical Society

All articles from Information Technology >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: A “cosmic snake” reveals the structure of remote galaxies

The formation of stars in distant galaxies is still largely unexplored. For the first time, astron-omers at the University of Geneva have now been able to closely observe a star system six billion light-years away. In doing so, they are confirming earlier simulations made by the University of Zurich. One special effect is made possible by the multiple reflections of images that run through the cosmos like a snake.

Today, astronomers have a pretty accurate idea of how stars were formed in the recent cosmic past. But do these laws also apply to older galaxies? For around a...

Im Focus: Visual intelligence is not the same as IQ

Just because someone is smart and well-motivated doesn't mean he or she can learn the visual skills needed to excel at tasks like matching fingerprints, interpreting medical X-rays, keeping track of aircraft on radar displays or forensic face matching.

That is the implication of a new study which shows for the first time that there is a broad range of differences in people's visual ability and that these...

Im Focus: Novel Nano-CT device creates high-resolution 3D-X-rays of tiny velvet worm legs

Computer Tomography (CT) is a standard procedure in hospitals, but so far, the technology has not been suitable for imaging extremely small objects. In PNAS, a team from the Technical University of Munich (TUM) describes a Nano-CT device that creates three-dimensional x-ray images at resolutions up to 100 nanometers. The first test application: Together with colleagues from the University of Kassel and Helmholtz-Zentrum Geesthacht the researchers analyzed the locomotory system of a velvet worm.

During a CT analysis, the object under investigation is x-rayed and a detector measures the respective amount of radiation absorbed from various angles....

Im Focus: Researchers Develop Data Bus for Quantum Computer

The quantum world is fragile; error correction codes are needed to protect the information stored in a quantum object from the deteriorating effects of noise. Quantum physicists in Innsbruck have developed a protocol to pass quantum information between differently encoded building blocks of a future quantum computer, such as processors and memories. Scientists may use this protocol in the future to build a data bus for quantum computers. The researchers have published their work in the journal Nature Communications.

Future quantum computers will be able to solve problems where conventional computers fail today. We are still far away from any large-scale implementation,...

Im Focus: Wrinkles give heat a jolt in pillared graphene

Rice University researchers test 3-D carbon nanostructures' thermal transport abilities

Pillared graphene would transfer heat better if the theoretical material had a few asymmetric junctions that caused wrinkles, according to Rice University...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Ecology Across Borders: International conference brings together 1,500 ecologists

15.11.2017 | Event News

Road into laboratory: Users discuss biaxial fatigue-testing for car and truck wheel

15.11.2017 | Event News

#Berlin5GWeek: The right network for Industry 4.0

30.10.2017 | Event News

 
Latest News

NASA detects solar flare pulses at Sun and Earth

17.11.2017 | Physics and Astronomy

NIST scientists discover how to switch liver cancer cell growth from 2-D to 3-D structures

17.11.2017 | Health and Medicine

The importance of biodiversity in forests could increase due to climate change

17.11.2017 | Studies and Analyses

VideoLinks
B2B-VideoLinks
More VideoLinks >>>