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Computer capable of reducing diagnosis time for rare diseases

London, Jun 24 (Prensa Latina) A computer capable of working much faster than a traditional one is being used in order to reduce the diagnosis time of so-called rare diseases, conditions that nowadays take up to five years to be identified.

General Practitioners´ goal, as published by the European Journal of Human Genetics, is to get patients have a much accurate diagnosis in less than a year from the first consultation by 2027.

According to the journal, the supercomputer works from a database built with sequenced exomes – coding parts of genes that allow to study human DNA – of patients.

Plus, this information is shared by an international community called Solve-RD, made up of over 300 researchers from 15 nations, which allows a greater number of diagnoses to be conducted.

‘A human genome is 300 gigabytes of data and many laptops do not have a hard drive that can accommodate a genome. Processing them on a normal computer, with a single CPU, could take thousands of hours.¨ enlightened Sergi Beltran, one of the leading scientists.

He also pointed out that as many as 12,000 people have been to date registered in the system and 500 opinions have been obtained.

‘The first diagnosis is too important to be able to continue digging the causes, and it has a very large impact on a family and psychological level, even if it is not a cure,’ said Leslie Matalonga, one of those in charge of processing the data that must be introduced in the supercomputer.

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