New Genetic Test Finds Hidden Neurological Diseases

6 months ago 31

March 17, 2022 -- Diseases that impact the nervous system tin beryllium immoderate of the astir hard conditions for doctors to diagnose.

Many conditions tin origin akin symptoms, but 2 radical with the aforesaid information could person antithetic symptoms, which tin marque the origin of the symptoms hard to pinpoint. Delays successful diagnosing the information mean that radical spell longer without the attraction they need.

But now, a new DNA test is solving that occupation for much than 50 familial diseases that impact the tense system.

The caller trial covers Huntington's disease, Lou Gehrig's disease, fragile X syndrome, epilepsy, and assorted different neurological diseases that are passed connected genetically from parents to children.

These diseases are collectively known arsenic short-tandem repetition enlargement disorders, which means that precise agelong DNA sequences that repetition implicit and implicit successful a person's genes are causing problems.

The caller trial uses a method called nanopore sequencing, which scans a patient's DNA looking for 37 genes known to beryllium progressive with short-tandem repetition enlargement disorders. When the trial spots the genes, it checks whether they're portion of these long, repetitive sequences and what those sequences are. This identifies what information the idiosyncratic has.

Though nary of these conditions has a cure, aboriginal diagnosis helps patients hole for aboriginal symptoms and helps doctors negociate complications.

Before this test, doctors and patients had to trust connected little accura...

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