March 17, 2022 — Ailments that have an effect on the nervous system may be a few of the most troublesome situations for medical doctors to diagnose.
Many situations may cause related signs, however two individuals with the identical situation might have totally different signs, which may make the reason for the signs arduous 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 can be handed on genetically from dad and mom to youngsters.
These ailments are collectively often known as short-tandem repeat enlargement problems, which signifies that very lengthy DNA sequences that repeat again and again in an individual’s genes are inflicting issues.
The brand new check makes use of a method 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 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 particular person has.
Although none of those situations has a remedy, early analysis helps sufferers put together for future signs and helps medical doctors handle problems.
Earlier than this check, medical doctors and sufferers needed to depend on much less correct exams.
The brand new method prices lower than $750 and makes use of know-how in regards to the dimension of a stapler. It could additionally establish new repetitive sequences, which might result in discovering situations we don’t but find out about.