March 17, 2022 — Ailments that have an effect on the nervous system might be among the most tough circumstances for docs to diagnose.
Many circumstances may cause related signs, however two folks with the identical situation might have completely different signs, which may make the reason for the signs exhausting to pinpoint. Delays in diagnosing the situation imply that folks go longer with out the therapy they want.
However now, a new DNA check is fixing that drawback for greater than 50 genetic ailments that have an effect on the nervous system.
The brand new check covers Huntington’s illness, Lou Gehrig’s illness, fragile X syndrome, epilepsy, and numerous different neurological ailments which might be handed on genetically from mother and father to youngsters.
These ailments are collectively generally known as short-tandem repeat growth problems, which signifies that very lengthy DNA sequences that repeat time and again in an individual’s genes are inflicting issues.
The brand new check makes use of a method known as nanopore sequencing, which scans a affected person’s DNA in search of 37 genes recognized to be concerned with short-tandem repeat growth problems. When the check spots the genes, it checks whether or not they’re a part of these lengthy, repetitive sequences and what these sequences are. This identifies what situation the individual has.
Although none of those circumstances has a remedy, early prognosis helps sufferers put together for future signs and helps docs handle issues.
Earlier than this check, docs and sufferers needed to depend on much less correct exams.
The brand new method prices lower than $750 and makes use of expertise in regards to the measurement of a stapler. It could additionally establish new repetitive sequences, which might result in discovering circumstances we don’t but learn about.