What if a single genetic test was able to detect more than 50 rare pathologies?


  • In France, 3 million people suffer from genetic diseases in France.
  • Identifying the altered gene is essential for further research to better understand the disease and treat it as soon as possible.

Reducing the time it takes to diagnose rare pathologies to a few days instead of several years is the goal of researchers at the Garvan Institute of Medical Research in Australia. In works published in the journal Science Advances March 4they announced that they have developed a DNA test capable of detecting, in a precise and faster way, a range of neurological and neuromuscular genetic diseases, which are difficult to detect, from a blood sample.

Identify genetic diseases by genome scan

The scientists specified that the pathologies identified by the test belonged to a class of “over 50 neurological and neuromuscular diseases caused by short tandem repeat (STR) expansion disorders with 37 different genes involved”. The authors explained that they used the “Nanopore sequencing”a technique that scans the patient’s genome.

An effective DNA test to detect dozens of conditions

To find out if the test is effective, the scientists recruited 37 patients, 25 of whom suffered from neurogenetic diseases. “We correctly diagnosed all patients with previously known conditions including Huntington’s disease, fragile X syndrome, hereditary cerebellar ataxias, myotonic dystrophies, myoclonic epilepsies, motor neuron disease,” said Dr. Ira Deveson, head of genomic technologies at the Garvan Institute and lead author of the study.

In a statement, the team said they hope to see their test used within two to five years to diagnose genetic diseases. But first, she must wait for clinical authorization.

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