Ynet reports that a new study conducted by the Hebrew University of Jerusalem has uncovered how certain genes affect brain development. The study identified patterns showing how specific genes can contribute to disease and other conditions by influencing neuronal growth. It also led to the discovery of a cause of microcephaly, a condition characterized by smaller head sizes in infants. This gene-focused approach may help researchers identify the genetic causes of neurodevelopmental conditions such as autism.
The study used large-scale CRISPR gene-editing screens to systematically shut down nearly all genes in mouse embryonic stem cells as they developed into neurons. The approach allowed scientists to pinpoint which genes are critical for the formation, differentiation and migration of nerve cells — processes that, when disrupted, can lead to autism and other neurodevelopmental disorders.
Led by Prof. Sagiv Shifman, the research team found that hundreds of genes are indispensable for normal neuronal development, yet only a small fraction are currently associated with known neurodevelopmental disorders. The findings suggest that many disease-causing genes remain undiscovered.
Shifman’s team studied eight genes in developing mice. One of the genes, PEDS1, was found to play a key role in brain development by strengthening cell membranes and nerve tissue in embryos. When it’s disabled, the mice were observed to develop microcephaly.
For the first time, a specific combination of symptoms and conditions has been linked to this gene. Thanks to Israeli innovation, similar research approaches could help trace other neurodevelopmental conditions to their genetic root causes.