Post by Griffith University

The tiny zebrafish is helping researchers rapidly determine whether a newborn’s genetic mutation is likely to cause spinal muscular atrophy (SMA), one of the leading causes of infant mortality worldwide. Dr Jean Giacomotto from Griffith University Institute for Biomedicine and Glycomics said: “SMA is a genetic disorder which causes progressive loss of motor neurons, leading to muscle weakness and loss of basic motor functions.” “Without treatment, SMA is typically fatal, and while highly effective therapies now exist, they can exceed US$2 million per child per year." 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. “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," he said. “This tiny fish offers a fast and affordable way to help resolve these cases and reduce distress for families.”