DNA - Sputnik International, 1920
Science & Tech
Discover the latest science and technology news from Sputnik including the inventions and scientific breakthroughs that are shaping the world.

Simple DNA Test May Make Breakthrough in Diagnosing Genetic and Neurological Diseases, Study Says

CC0 / / DNA
DNA - Sputnik International, 1920, 17.02.2022
Scientists say in some cases it is diagnosis and not the cure that plays a crucial role – patients can spend years suffering from certain symptoms and still be unaware of what ailment they have. The new method is expected to rectify this problem and help treat diseases in their early stages.
A simple DNA test may make a breakthrough in diagnosing genetic and neurological diseases, claims a group of international scientists. According to the findings of their study, which will be published in The Lancet next month, whole genome sequencing (WGS) can accurately detect the most common neurological disorders.

As the name implies WGS analyses the entire genomic DNA sequence of an individual and looks at possible mutations and health indicators. The method developed by the researchers uses an algorithm that compares elements in the genome sequence of a healthy person with those affected by so-called repeat expansion disorders, caused by expansion in DNA repeats.

Scientists say the advantage of their method is that they can test "multiple variants at the same time".

"It is very exciting because it opens up the vista of a test that could end the diagnostic odyssey for many patients. This work paves the way for this to be implemented immediately within the NHS", said Professor Sir Mark Caulfield from Queen Mary University of London and former chief scientist at Genomics England.

The method was used on 11,631 undiagnosed people with symptoms associated with repeat expansion disorders and resulted in 68 diagnoses. Among the patients who benefited were children – a teenager with dementia and a 10-year-old girl with an intellectual disability. Scientists say both individuals were likely to have remained undiagnosed because they didn't have a history of neurological diseases in the family.

Eileen Flynn, a patient at The Ataxia Centre at University College London Hospitals, was diagnosed with Friedreich's ataxia, a genetic disease that causes difficulty walking, a loss of sensation in the arms and legs, and impairs speech.

"Over the last 15 years I've gone from someone who was confident, loved to dance and socialise to now using a walker and having slurred speech. Before my diagnosis, I thought it would be better if I had cancer as there's usually a clear path of action to help you fight the disease. Having a diagnosis isn't a cure, but at last I know what is happening and understand what I need to do to delay the inevitable for as long as possible", Eileen Flynn said.

To participate in the discussion
log in or register
Заголовок открываемого материала