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.
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.