Researchers at Griffith University's Institute for Biomedicine and Glycomics have developed a new method using zebrafish to quickly assess whether genetic mutations in newborns are likely to cause spinal muscular atrophy (SMA), a leading cause of infant mortality.
The study, led by Dr. Jean Giacomotto, was featured on the cover of EMBO Molecular Medicine in January. The team created a rapid zebrafish-based functional assay that can determine the pathogenicity of novel SMN1 mutations within days. This approach could help inform urgent clinical decisions around the world.
"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.
"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.
"With genomic sequencing rising worldwide, clinicians are encountering more and more uncertain variants.
"This tiny fish offers a fast and affordable way to help resolve these cases and reduce distress for families."
