{"id":231353,"date":"2026-02-14T05:29:22","date_gmt":"2026-02-14T11:29:22","guid":{"rendered":"https:\/\/lifeboat.com\/blog\/2026\/02\/false-alarm-in-newborn-screening-how-zebrafish-can-prevent-unnecessary-spinal-muscular-atrophy-therapies"},"modified":"2026-02-14T05:29:22","modified_gmt":"2026-02-14T11:29:22","slug":"false-alarm-in-newborn-screening-how-zebrafish-can-prevent-unnecessary-spinal-muscular-atrophy-therapies","status":"publish","type":"post","link":"https:\/\/lifeboat.com\/blog\/2026\/02\/false-alarm-in-newborn-screening-how-zebrafish-can-prevent-unnecessary-spinal-muscular-atrophy-therapies","title":{"rendered":"False alarm in newborn screening: How zebrafish can prevent unnecessary spinal muscular atrophy therapies"},"content":{"rendered":"

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A positive newborn screening for spinal muscular atrophy (SMA) is currently considered a medical emergency. Without early treatment, severe disability or death in infancy are likely. However, research findings from Germany and Australia now show that in rare cases, a positive screening result can be a genetic false alarm. Researchers have discovered that functional tests in a zebrafish model may enable fast and reliable clinical decision-making in cases of unclear genetic findings.<\/p>\n

The study \u201cSMN1 variants identified by false positive SMA newborn screening tests: Therapeutic hurdles, and functional and epidemiological solutions\u201d was published in the American Journal of Human Genetics<\/a> and another study, \u201cClinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1\/SMA,\u201d in EMBO Molecular Medicine<\/a>. The collaborative research team was led by Professor Dr. Brunhilde Wirth, Director of the University of Cologne\u2019s Institute of Human Genetics and Principal Investigator at the Center for Molecular Medicine Cologne (CMMC) and Dr. Jean Giacomotto from Griffith University\u2019s Institute for Biomedicine and Glycomics, Brisbane, Australia.<\/p>\n

The scientists examined two newborns\u2014a girl from Germany and a boy from Australia\u2014in whom routine screening initially failed to detect the SMN1 gene. A missing SMN1 gene is the main genetic trigger of SMA. This diagnosis would normally result in immediate treatment, as it would be assumed that the child\u2019s life is in danger. However, further genetic analysis revealed a surprising finding: both children carried rare SMN1 variants that had not been detected by the screening test. It remains unclear whether these variants cause the disease.<\/p>\n","protected":false},"excerpt":{"rendered":"

A positive newborn screening for spinal muscular atrophy (SMA) is currently considered a medical emergency. Without early treatment, severe disability or death in infancy are likely. However, research findings from Germany and Australia now show that in rare cases, a positive screening result can be a genetic false alarm. Researchers have discovered that functional tests [\u2026]<\/p>\n","protected":false},"author":662,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[11,412],"tags":[],"class_list":["post-231353","post","type-post","status-publish","format-standard","hentry","category-biotech-medical","category-genetics"],"_links":{"self":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/231353","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/users\/662"}],"replies":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/comments?post=231353"}],"version-history":[{"count":0,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/231353\/revisions"}],"wp:attachment":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/media?parent=231353"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/categories?post=231353"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/tags?post=231353"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}