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:
The program Phenomizer online:
Exact Score distribution computation for ontological similarity measures, Schulz et al., BMC Bioinformatics 2011
Clinical diagnostics in human genetics with semantic similarity searches in ontologies, Köhler et al. The American Journal of Human Genetics 2009
A press picture is available at: www.uni-saarland.de/pressefotos
Dr. Marcel Schulz
Computational Biology and Applied Algorithms
Max Planck Institute for Informatics
Phone: +49 681 93253115
Competence Center Computer Science Saarland
Phone: +49 681 30270741
Friederike Meyer zu Tittingdorf | idw - Informationsdienst Wissenschaft
Engineers develop new methods to speed up simulations in computational grand challenge
27.03.2015 | University of California - San Diego
Sensor cable monitors fences of all kinds and can even detect low-level drone fly-bys
25.03.2015 | Universität des Saarlandes
In an experiment at the Department of Energy's SLAC National Accelerator Laboratory, scientists precisely measured the temperature and structure of aluminum as...
The IPH presents a solution at HANNOVER MESSE 2015 to make ship traffic more reliable while decreasing the maintenance costs at the same time. In cooperation with project partners, the research institute from Hannover, Germany, has developed a sensor system which continuously monitors the condition of the marine gearbox, thus preventing breakdowns. Special feature: the monitoring system works wirelessly and energy-autonomously. The required electrical power is generated where it is needed – directly at the sensor.
As well as cars need to be certified regularly (in Germany by the TÜV – Technical Inspection Association), ships need to be inspected – if the powertrain stops...
When an earthquake hits, the faster first responders can get to an impacted area, the more likely infrastructure--and lives--can be saved.
The Atlantic overturning is one of Earth’s most important heat transport systems, pumping warm water northwards and cold water southwards. Also known as the Gulf Stream system, it is responsible for the mild climate in northwestern Europe.
Scientists now found evidence for a slowdown of the overturning – multiple lines of observation suggest that in recent decades, the current system has been...
Because they are regularly subjected to heavy vehicle traffic, emissions, moisture and salt, above- and underground parking garages, as well as bridges, frequently experience large areas of corrosion. Most inspection systems to date have only been capable of inspecting smaller surface areas.
From April 13 to April 17 at the Hannover Messe (hall 2, exhibit booth C16), engineers from the Fraunhofer Institute for Nondestructive Testing IZFP will be...
25.03.2015 | Event News
19.03.2015 | Event News
17.03.2015 | Event News
27.03.2015 | Agricultural and Forestry Science
27.03.2015 | Materials Sciences
27.03.2015 | Ecology, The Environment and Conservation