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Diagnosis For Hereditary Disease Gets Simpler

By Kamal Nayan | Update Date: Jul 30, 2014 11:39 AM EDT

Diagnosis of hereditary illnesses like cystic fibrosis, or Huntington's disease, can now be easily done using a program. The program, available as an app would allow physicians discover patients' afflictions quickly and without great research effort. 

The app dubbed Phenomizer is based on computing method that compares different patterns of hereditary diseases from an extensive online database and weighs them by their likelihood. 

Diseases such as diabetes, epilepsy, a heart defect or deafness can themselves be symptoms of a range of hereditary disease. 

"That makes it so difficult for medical specialists to diagnose someone with the correct disease from the beginning", said 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, in the press release. "Additionally, each disease appears with different characteristics in different patients".

"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", explained Schulz.

The Phenomizer app is available for free on Google Play.

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