Australia’s Griffith University Institute for Biomedicine and Glycomics has developed a way to predict the course of spinal muscular atrophy (SMA) in newborns more accurately. This severe genetic disease affects motor neurons and requires treatment as early as possible. However, a mutation found in an infant does not always mean the disease will actually develop, leaving doctors with a difficult choice: start expensive and potentially unnecessary therapy, or wait for symptoms and lose precious time.
To address this problem, researchers used zebrafish, which are widely employed in biomedical experiments. They introduced into fish embryos the same genetic mutations found in children suspected of having SMA and observed the larvae’s development over six days. Because the embryos develop rapidly — in about 72 hours — the effects of genetic changes become visible very quickly.
If a mutation proved harmful, the fish showed signs of nervous system dysfunction. When the change was harmless, the larvae developed normally. This approach makes it possible to determine whether a specific mutation will actually lead to disease.
The new method helps doctors make more accurate decisions about when to start treatment, reducing the risk of both delay and unnecessary therapy. The development may become an important step in personalized medicine and in more precise diagnosis of genetic diseases in newborns.
