March 4 (UPI) —<\/span> A new DNA test can accurately identify a range of hard-to-diagnose neurological and neuromuscular genetic diseases quicker and more accurately than currently available diagnostic tools, researchers at the Garvan Institute of Medical Research in Australia said Friday.<\/p>\n The diseases that can be spotted with the test belong to a class of more than 50 diseases caused by unusually long, repetitive DNA sequences in a person’s genes and are known as short-tandem repeat expansion disorders, the researchers said in article in the journal Science Advances.\n<\/p>\n<\/article>\n Examples of the disorders include rare diseases such as Huntington’s disease, fragile X syndrome, hereditary cerebellar ataxias, myotonic dystrophies, myoclonic epilepsies and motor neuron diseases, including amyotrophic lateral sclerosis, or Lou Gehrig’s disease, they said.<\/p>\n The new test analyzes DNA in collected blood samples to spot disease-causing repeat expansion sequences, according to the researchers.\n<\/p>\n It works by scanning a patient’s genome using a technology called nanopore sequencing, the researchers said.\n<\/p>\n Although short-tandem repeat expansion disorders cannot be cured, earlier diagnosis can help doctors identify and treat disease complications sooner. These include heart issues associated with Friedreich’s ataxia, a disease that causes loss of sensation in the arms and legs, they said.<\/p>\n “In the one test, we can search for every known disease-causing repeat expansion sequence,” researcher Ira Deveson said in a press release.\n<\/p>\n These “are often difficult to diagnose due to the complex symptoms that patients present with … and limitations of existing genetic testing methods,” said Deveson, who is head of genomics technologies at the Garvan Institute for Medical Research in Sydney.<\/p>\n The test also can help “potentially discover novel sequences likely to be involved in diseases that have not yet been described,” he said.<\/p>\n Short-tandem repeat expansion disorders are passed on through families and can be life-threatening, according to the National Organization for Rare Disorders.\n<\/p>\n They generally involve muscle and nerve damage, as well as other complications throughout the body, and they can be challenging to diagnose, the organization says.<\/p>\n The nanopore-based test is programmed to analyze 37 genes known to be involved in short-tandem repeat expansion disorders and to read through the long, repeated DNA sequences that cause disease, according to Deveson and his colleagues.\n<\/p>\n The technology used in the test is smaller and cheaper than standard tests. It is about the size of a conventional stapler and costs less than $750, or a fraction of what other similar tests cost, the researchers said.<\/p>\n In this study, the device was used to evaluate DNA samples collected from 27 patients with known short-tandem repeat expansion disorders. In all patients, the test spotted the DNA sequences behind these disorders and correctly identified the specific diseases each patient had, the researchers said.<\/p>\n Assuming the findings can be reproduced in larger studies, they said they expect to see their new technology used in diagnostic practice within the next two to five years.<\/p>\n “For patients … the new test will be a game-changer, helping to end what can often be a taxing diagnostic odyssey,” study co-author Dr. Kishore Kumar said in a press release.<\/p>\n “Current genetic testing for expansion disorders can be ‘hit and miss,’ [and] can go on for years without finding the genes implicated in their disease,” said Kumar, a clinical neurologist at the Concord Hospital in Warrimoo, Australia.<\/p>\n<\/p><\/div>\n","protected":false},"excerpt":{"rendered":" Researchers in Australia say they have developed a new genetic test that can accurately diagnose 50 rare, life-threatening disorders. Photo by qimono\/Pixabay March 4 (UPI) — A new DNA test can accurately identify a range of hard-to-diagnose neurological and neuromuscular genetic diseases quicker and more accurately than currently available diagnostic tools, researchers at the Garvan […]<\/p>\n","protected":false},"author":1,"featured_media":1010901,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[25],"tags":[5685,3398,5686,5687,5337,3534,1292],"class_list":["post-1010900","post","type-post","status-publish","format-standard","has-post-thumbnail","category-health","tag-detect","tag-disorders","tag-dna","tag-genetic","tag-rare","tag-researchers","tag-test"],"_links":{"self":[{"href":"https:\/\/www.ghanamma.com\/2022\/wp-json\/wp\/v2\/posts\/1010900","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.ghanamma.com\/2022\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.ghanamma.com\/2022\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.ghanamma.com\/2022\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.ghanamma.com\/2022\/wp-json\/wp\/v2\/comments?post=1010900"}],"version-history":[{"count":0,"href":"https:\/\/www.ghanamma.com\/2022\/wp-json\/wp\/v2\/posts\/1010900\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.ghanamma.com\/2022\/wp-json\/wp\/v2\/media?parent=1010900"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.ghanamma.com\/2022\/wp-json\/wp\/v2\/categories?post=1010900"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.ghanamma.com\/2022\/wp-json\/wp\/v2\/tags?post=1010900"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
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\n<\/div>\nResearchers in Australia say they have developed a new genetic test that can accurately diagnose 50 rare, life-threatening disorders. Photo by qimono\/Pixabay<\/div>\n\n