[CYPRUS TIMES] British scientists develop DNA test that can simultaneously detect neurological diseases

Scientists in Britain have announced that they are developing a genetic test that can detect several fairly common neurological conditions, thus ending the current "diagnostic odyssey" of multiple different genetic tests, which do not always give an accurate diagnosis and perpetuate people's uncertainty about whether they are sick.

It is known that the definitive diagnosis of certain not particularly rare diseases of genetic origin (which affect about 1 person in 3.000), such as Huntington's disease, some prions, fragile X chromosome syndrome or amyotrophic lateral sclerosis, are difficult because, although they have a genetic background, it is not known beforehand which test to perform, with the result that the diagnosis of the condition is delayed for months or even years, especially in children. The new full-genome sequencing test will be able to quickly and accurately detect the most common inherited genetic disorders as part of a routine clinical practice.

The researchers, led by Professor Sir Mark Caulfield of Queen Mary University of London, who published the paper in The Lancet Neurology, according to the British Guardian, first evaluated the test in 404 patients previously diagnosed with neurological conditions through other conventional tests, concluding that the accuracy and sensitivity of the new test is comparable. The test uses an algorithm that "reads" the DNA of individuals from whom a sample is taken, comparing it to that of healthy people and identifying subtle differences that may betray a genetic defect. This makes it possible to test for multiple genetic conditions simultaneously with the same test.

In a next step, the test was used on 11,631 people who had not previously been diagnosed with neurological disorders but had suspicious clinical symptoms. The test detected 68 people with conditions, six of whom were children (some with no relevant family medical history and therefore likely to remain undiagnosed for some time). Among them were a 10-year-old girl with mental retardation, an 18-year-old with early dementia and a woman diagnosed with Friedrich's ataxia.

"With a simple test we have the ability to diagnose the most common neurological diseases," said Caulfield. "It paves the way for a test that will end the diagnostic odyssey for many patients and could even be implemented immediately in the National Health Service."

Source: APE-MPA

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