When it comes to genetic neurological and neuromuscular diseases, screening early is key to getting the right treatment. A new DNA test developed by researchers at the Garvan Institute of Medical Research in Sydney may help in this process, as reported by the institution in a press release published on Saturday.
The breakthrough could forever revolutionize how we diagnose genetic diseases, making the lives of patients easier and providing better treatment options.
A single DNA test
"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," Dr. Ira Deveson, Head of Genomics Technologies at the Garvan Institute and senior author of the study, said in the statement.
Further research shows that the test is accurate and covers over 50 recognized diseases caused by unusually-long repetitive DNA sequences in a person’s genes.