Researchers at the Garvan Institute of Medical Research in Sydney, Australia, have developed a new DNA test that can identify a range of hard-to-diagnose neurological and neuromuscular genetic diseases.
The study, which included collaborators from Australia, Israel and the UK, demonstrates that the new test is quicker and more accurate compared to existing tests.
The researchers can now commence validation of the test to make it available in pathology services worldwide.
Using a single DNA sample, the test can assess the genome of a patient for more than 50 genetic neurological and neuromuscular diseases, including Huntington’s disease, muscular dystrophies and fragile X syndrome.
It works by scanning the genome of a patient using Nanopore sequencing technology.
Garvan Institute genomics technologies head Dr Ira Deveson said: “We correctly diagnosed all patients with conditions that were already known, including Huntington’s disease, fragile X syndrome, hereditary cerebellar ataxias, myotonic dystrophies, myoclonic epilepsies, motor neuron disease and more.
“The diseases covered by the test belong to a class of over 50 diseases caused by unusually-long repetitive DNA sequences in a person’s genes – known as ‘Short Tandem Repeat (STR) expansion disorders.
“They are often difficult to diagnose due to the complex symptoms that patients present with, the challenging nature of these repetitive sequences, and limitations of existing genetic testing methods.”
The institute noted that repeat expansion disorders, which generally include muscle and nerve damage, as well as other complications, can be inherited and often dangerous.
Quick diagnosis of these disorders can help to identify and treat disease complications earlier.
Furthermore, the research team expects to use the new Nanopore sequencing technology in diagnostic practice within the next two to five years.