Tuesday, 23 January 2018

A device for diagnosing genetic diseases

12 June 2017 | News

The team of researchers developed Mendel,MD specifically for easy use by physicians and free of charge.

Researchers at Universidade Federal de Minas Gerais at Brazil have developed a simple and intuitive open-source software tool that could help doctors analyse patients' genetic data in order to diagnose diseases caused by mutations.

 The software tool called Mendel MD is reliable, simple and efficient in identifying disease-causing mutations in patients.

The software needed to analyse mutated sequences caused by the changing of the structure of a gene is often costly or too complex for many doctors to use. The team of researchers developed Mendel MD specifically for easy use by physicians and free of charge.

The researchers had the tool tested by researchers and students at their own university, as well as at GENE - Núcleo de Genetica Medica in Brazil and the Children's University Hospital in Dublin, Ireland.

The tool is expected to be adopted in other research centres and laboratories around the world.


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