ONE-STOP BLOOD TEST!

Detects 50 rare diseases at once

AREVOLUTIONARY blood test identified more than 50 hardto-diagnose neurological and neuromuscular genetic diseases faster and more accurately than existing methods, researchers claim. “This will be a gamechanger,” declares clinical neurologist Dr. Kishore Kumar.

“We can now test for all the disorders at once with a single DNA test and give a clear genetic diagnosis, helping patients avoid years of unnecessary muscle or nerve biopsies for diseases they don’t have.”

Scientists say the experimental test — developed at the Garvan Institute of Medical Research in Sydney, Australia, with input from an international team — correctly diagnosed patients with a range of genetic conditions. These include Huntington’s disease, fragile X syndrome, hereditary cerebellar ataxias, myotonic dystrophies, myoclonic epilepsies and motor neuron diseases, such as spinal muscular atrophy and ALS — also known as Lou Gehrig’s disease.

The illnesses, collectively known as short tandem repeat (STR) expansion disorders, are caused by unusually long, repetitive DNA sequences in patients’ genes.

The life-threatening conditions can be passed on through families and are often associated with muscle and nerve damage.

But Kumar says currently available genetic testing can be hit or miss.

“A doctor must decide which genes to test for based on the person’s symptoms and family history. If that test comes back negative, the patient is left without answers,” he explains.

“The testing can go on for years. We call this the diagnostic odyssey. It can be quite stressful for patients and their families.

“This new test will completely revolutionize how we diagnose these diseases.”

Although STR disorders cannot be cured, a faster diagnosis can help doctors treat complications earlier. The new test scans a patient’s genome using Nanopore sequencing technology, which is cheaper than standard methods.

With Nanopore, the gene sequencing device has been reduced from the size of a typical fridge to the size of a stapler and costs just $1,000 — compared to hundreds of thousands needed for mainstream DNA sequencing technologies.

The team hopes their new tech will be in diagnostic practice around the world in as little as two years!