{"id":433232,"date":"2026-01-23T23:33:20","date_gmt":"2026-01-23T23:33:20","guid":{"rendered":"https:\/\/www.newsbeep.com\/au\/433232\/"},"modified":"2026-01-23T23:33:20","modified_gmt":"2026-01-23T23:33:20","slug":"how-a-tank-of-zebrafish-helped-two-children-born-with-a-rare-genetic-variant","status":"publish","type":"post","link":"https:\/\/www.newsbeep.com\/au\/433232\/","title":{"rendered":"How a tank of zebrafish helped two children born with a rare genetic variant"},"content":{"rendered":"

Two tiny babies born on different sides of the world have avoided medical treatment costing millions of dollars, thanks to an Australian-based scientist and his tanks of zebrafish.<\/p>\n

The babies \u2014 a boy in NSW and a girl in Germany \u2014 were born in 2023 with unusual variants of the gene that causes spinal muscular atrophy (SMA), detected in newborn screening.<\/p>\n

Neither newborn had a family history of the condition, affecting an estimated one in 10,000 babies worldwide.<\/p>\n

Both babies were born with variants that were previously unknown to science, making it impossible for their doctors to know whether they would develop the condition \u2014 or not.<\/p>\n

\"A<\/p>\n

Griffith University biomedical scientist Jean Giacomotto holds up a tank of Zebrafish in his lab at the Institute for Biomedicine and Glycomics. (Supplied: Griffith University)<\/p>\n

That created a dilemma. Should medical specialists start treatment, risking unnecessary intervention, with potential side effects? Or, should they delay therapy, risking irreversible harm?<\/p>\n

The Australian Functional Genomics Network, established to enhance the understanding of genetic variants, turned to Griffith University biomedical scientist Jean Giacomotto, and his zebrafish, for clarity.<\/p>\n

Spinal muscular atrophy is caused by mutations in the SMN1 (survivor motor neuron 1) gene, leading to a lack of a protein, which is needed for motor neuron survival.<\/p>\n

In the past, children with the most common form of the genetic condition, SMA type 1, have died before the age of two.<\/p>\n

However, three treatments have emerged in the past decade, including a one-off gene therapy drug, Zolgensma, which costs about $2 million.<\/p>\n

All must be initiated before symptoms appear to avoid irreversible motor neuron death and the long-term effects of the treatment are unknown.<\/p>\n

Dr Giacomotto, of Griffith University’s Institute for Biomedicine and Glycomics, used zebrafish to show both babies’ SMN1 variants would not result in the disorder.<\/p>\n

\"A<\/p>\n

Dr Giacomotto injected the babies’ SMN1 variants into zebrafish embryos that were bred without the gene. (Supplied: Griffith University)<\/p>\n

He did so in less than six weeks, replicating the results.<\/p>\n

Zebrafish are a home aquarium favourite with eye-catching stripes. But they are also proving to be a useful tool for researchers studying neurological conditions, such as spinal muscular atrophy.<\/p>\n

Dr Giacomotto said zebrafish bred without a SMN1 gene, developed a form of the neuromuscular condition, resulting in degeneration of the spine, progressive loss of motor function and premature death.<\/p>\n

They die within about six days, rather than the usual zebrafish life span of about two years.<\/p>\n

But when he used a precision injection technique to introduce the babies’ SMN1 variants into zebrafish embryos bred without the gene, he found they survived.<\/p>\n

“We were able to functionally test each baby’s exact mutation and show it was not harmful,” Dr Giacomotto said.<\/p>\n

\"A<\/p>\n

A developing zebrafish viewed from the side, with muscle fibres in red and motor neurons in white, helping researchers track disease progression and study the impact of genetic variants. (Supplied: Griffith University)<\/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

The children at the centre of the research are more than two years old and are developing normally.<\/p>\n

Dr Giacomotto’s research features on the front cover of the latest edition of the scientific journal EMBO Molecular Medicine.<\/p>\n

University of NSW-based paediatric neurologist Michelle Farrar, who was also part of the research, described it as a “game-changer”.<\/p>\n

\"Colourful<\/p>\n

Zebrafish in the lab. (Supplied: Griffith University)<\/p>\n

“It really is the first time this model’s been used in a timely way that really supports clinical decision making to get the best management for the child and certainty for the families,” Professor Farrar said.<\/p>\n

She said gene therapy for babies with spinal muscular atrophy was only subsidised in Australia on the Pharmaceutical Benefits Scheme for children with a definitive diagnosis.<\/p>\n

“Our newborn screening guidelines say that if you have an uncertain result, that they need to be followed up until it’s clarified and so, this research was really important,” she said.<\/p>\n

\"A<\/p>\n

The luminous bodies of zebrafish larvae make it easy for researchers to observe specific particular features. (Supplied: Griffith University)<\/p>\n

The researchers suggest zebrafish could become a “valuable model” for testing genetic variants of uncertain significance, not only for spinal muscular atrophy, but for human disease generally.<\/p>\n

“We are seeing an explosion of new gene variants associated with a diversity of disorders,” they wrote in the scientific journal.<\/p>\n

“The determination of their functional consequences is posing a significant challenge, and this problem will continue to grow with the development and need for precision\/personalised medicine.<\/p>\n

“The zebrafish can help address this translational need.”<\/p>\n

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Australian Regenerative Medicine Institute director of research Peter Currie, who was not involved in the study, described the breakthrough as a “huge success story for modern medicine”.<\/p>\n

Professor Currie, who uses zebrafish to research muscular dystrophy, said zebrafish were a “well-established” model for the study of human disease, with the freshwater fish sharing 70 per cent of its genes with humans.<\/p>\n

Zebrafish embryos are also translucent, allowing scientists to study internal biological processes, including neuromuscular development.<\/p>\n

\"A<\/p>\n

Australian Regenerative Medicine Institute director of research, Professor Peter Currie, who uses zebrafish to study muscular dystrophy. (Supplied)<\/p>\n

The Monash University-based researcher described Professor Giacomotto’s zebrafish work as a “really clever way to use the model to speed up the diagnostic process”.<\/p>\n

Professor Currie said zebrafish were also a useful model to screen experimental drugs for the treatment of human disease, including cancer.<\/p>\n","protected":false},"excerpt":{"rendered":"Two tiny babies born on different sides of the world have avoided medical treatment costing millions of dollars,…\n","protected":false},"author":2,"featured_media":433233,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[10],"tags":[64,63,5562,8054,35770,137,14262,226552,107184,226553,14327],"class_list":["post-433232","post","type-post","status-publish","format-standard","has-post-thumbnail","category-health","tag-au","tag-australia","tag-biomedicine","tag-genomics","tag-griffith-university","tag-health","tag-medical-research","tag-smn1-variant","tag-spinal-muscular-atrophy","tag-zebra-fish","tag-zebrafish"],"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/au\/wp-json\/wp\/v2\/posts\/433232","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/au\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/au\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/au\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/au\/wp-json\/wp\/v2\/comments?post=433232"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/au\/wp-json\/wp\/v2\/posts\/433232\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/au\/wp-json\/wp\/v2\/media\/433233"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/au\/wp-json\/wp\/v2\/media?parent=433232"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/au\/wp-json\/wp\/v2\/categories?post=433232"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/au\/wp-json\/wp\/v2\/tags?post=433232"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}