Overview
- A Griffith University team led by Dr. Jean Giacomotto developed a zebrafish-based functional assay to determine whether novel SMN1 mutations are pathogenic within days.
- In the reported newborn cases, testing each baby’s exact mutation showed it was not harmful, providing timely clarity for clinicians and families.
- The approach targets the growing challenge of variants of uncertain significance arising from expanded newborn genomic screening programs.
- Rapid functional evidence could help clinicians avoid unnecessary multi‑million‑dollar SMA therapies or perilous delays in starting effective treatment.
- The study, titled “Clinical relevance of zebrafish for gene variants testing: Proof-of-principle with SMN1/SMA,” was published in EMBO Molecular Medicine and featured on the journal’s January cover.