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Technology Jun 24, 2025

Discovery of genetic disorder affecting children's brain development

Scientists from the University of Otago have discovered that changes in the CRNKL1 gene can cause a serious brain disorder in children, leading to symptoms like smaller head size, seizures, and major learning difficulties.
Their findings were published recently in the American Journal of Human Genetics.

TL;DR

Insights could help families understand what's behind rare conditions

Researchers studied 10 families—most with the same CRNKL1 mutations—and noticed all affected kids had similar symptoms.
This points to how crucial this gene is for healthy brain development.
As lead author Dr. Sankalita Ray Das put it, these insights could really help families understand what's behind these rare conditions and open doors for future research.