mutation<\/a> which has never been seen before, known as a ‘variant of uncertain significance or VUS’, clinicians face an impossible dilemma \u2013 start treatment immediately, risk unnecessary intervention, or wait and risk irreversible nerve damage.”<\/p>\n
\n
<\/p>\n
Dr. Jean Giacomotto from Griffith University’s Institute for Biomedicine and Glycomics<\/p>\n
<\/p>\n
To solve this, Dr. Giacomotto and his team developed a rapid zebrafish-based functional assay which could determine the pathogenicity of a novel SMN1 mutation within days, potentially informing urgent clinical decisions worldwide.<\/p>\n
“Within a clinically meaningful timeframe, we were able to functionally test each baby’s exact mutation and show it was not harmful,” Dr. Giacomotto said.<\/p>\n
“This research provides the clearest demonstration to date that zebrafish can play a decisive role in clinical variant interpretation, particularly in newborns flagged through expanding genomic screening programs.<\/p>\n
“With genomic sequencing rising worldwide, clinicians are encountering more and more uncertain variants.<\/p>\n
“This tiny fish offers a fast and affordable way to help resolve these cases and reduce distress for families.”<\/p>\n
Source:<\/p>\n
Journal reference:<\/p>\n
Stringer, B. W., et al. (2025). Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1\/SMA.\u00a0EMBO Molecular Medicine. doi: 10.1038\/s44321-025-00355-8.\u00a0https:\/\/link.springer.com\/article\/10.1038\/s44321-025-00355-8<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"The tiny zebrafish is helping researchers rapidly determine whether a newborn’s genetic mutation is likely to cause spinal…\n","protected":false},"author":2,"featured_media":268701,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[10],"tags":[83,4730,5939,256,3302,1242,103,61,60,1357,8702,131928,16539,88,89,28667],"class_list":["post-268700","post","type-post","status-publish","format-standard","has-post-thumbnail","category-health","tag-baby","tag-biomedicine","tag-fish","tag-gene","tag-genetic","tag-genomic","tag-health","tag-ie","tag-ireland","tag-medicine","tag-mortality","tag-muscular-atrophy","tag-mutation","tag-newborn","tag-research","tag-spinal-muscular-atrophy"],"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/posts\/268700","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/comments?post=268700"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/posts\/268700\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/media\/268701"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/media?parent=268700"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/categories?post=268700"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/ie\/wp-json\/wp\/v2\/tags?post=268700"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}