March 17, 2022 — Ailments that have an effect on the nervous system might be a few of the most tough situations for docs to diagnose.
Many situations could cause comparable signs, however two folks with the identical situation might have completely different signs, which might make the reason for the signs laborious to pinpoint. Delays in diagnosing the situation imply that individuals go longer with out the therapy they want.
However now, a new DNA test 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 disease, Lou Gehrig’s disease, fragile X syndrome, epilepsy, and varied different neurological ailments which are handed on genetically from dad and mom to youngsters.
These ailments are collectively often known as short-tandem repeat enlargement issues, 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 way referred to as nanopore sequencing, which scans a affected person’s DNA searching for 37 genes identified to be concerned with short-tandem repeat enlargement issues. 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 particular person has.
Although none of those situations has a treatment, 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 assessments.
The brand new method prices lower than $750 and makes use of know-how in regards to the dimension of a stapler. It could actually additionally determine new repetitive sequences, which might result in discovering situations we don’t but find out about.
