The new DNA test, developed by scientists at the University of Sydney, can identify a range of difficult-to-diagnose genetic diseases faster and more accurately than existing tests. With the new invention, it will be possible to test more than 50 disorders simultaneously.
- The test detects rare genetic diseases characterized by long DNA sequences in genes
- Previously, patients may not have obtained an adequate diagnosis for years, and now one test will test many disorders
- The creators predict that within five years it will become a standard in world laboratories
- Check your health. Just answer these questions
- More information can be found on the Onet homepage
The diseases that a modern test detects belong to a class of diseases caused by unusually long, repetitive DNA sequences in genes — known as short tandem repeat (STR) expansion disorders.
The test works by scanning the patient’s genome using a DNA sample from the blood. This would not be possible without a technology called nanopore sequencing.
The device is programmed to read long, repetitive DNA sequences that cause disease. Unnaturally long repetitions are hallmarks of the disease.
A study published in Science Advances shows that the test is accurate and allows the team to start validating it and make it available to the relevant facilities.
The rest of the article is available under the video.
He was active, now it’s about crutches
A patient named John, who took part in the study, first realized something was wrong when he had unusual balance problems during a skiing lesson.
The symptoms, which worsened over the years, were very disturbing because he moved from being an active man to walking on crutches. “For over 10 years I have been going through research after research and had absolutely no answers to the question of what was wrong with me” — says John, who was eventually diagnosed with a rare genetic disease called CANVAS that affects the brain.
John admits he is glad that more patients will have an easier path to answering their questions. “It was comforting to finally have my diagnosis confirmed genetically, and knowing that in the near future others with these types of conditions will be able to get a diagnosis faster than me is exciting” — he said.
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End of “diagnostic odyssey”
As highlighted in a professional journal article, current genetic testing for expansion disorders may be “inaccurate”. When patients present with symptoms, it is difficult to determine which of the more than 50 genetic extensions they may have, so a physician must decide which genes should be tested based on the person’s symptoms and family history.
If the test result is negative, the patient remains unanswered. Such studies can go on for years without finding the genes responsible for the disease. Doctors call it the “diagnostic odyssey”.
The nanopore technology used in the test is cheaper than standard tests, which the team hopes will facilitate its introduction into pathology laboratories. “Thanks to the new technology, the gene sequencing device has been reduced to the size of a stapler and costs about $ 1000. This is a big difference from the hundreds of thousands needed to perform the current standard DNA sequencing tests » — explains Dr. Ira Deveson, head of genomics technology at the Garvan Institute and lead author of the study.
The developers expect the new technology to be used in diagnostic practice within the next five years. One of the key steps towards achieving this goal is obtaining the appropriate clinical accreditation for this method.
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