Massive Gene Hunt Maps Brain Cell Development, Identifies New Neurodevelopmental Disorder Gene

A genetic screening breakthrough uncovers hundreds of genes that guide stem cells into brain cells—and reveals how a single faulty gene can shatter a child’s development.

Researchers identified 331 genes critical for neural differentiation from embryonic stem cells using CRISPR knockout screens.

This methodology involved systematically disrupting nearly all genes in the genome while tracking the differentiation process, creating a comprehensive map of essential genes for brain development.

PEDS1, a gene linked to plasmalogen production, was found to cause a neurodevelopmental disorder when mutated. Affected children exhibited developmental delay and reduced brain size.

Two unrelated families with rare PEDS1 mutations were identified, validating the gene's role in human neurodevelopment.

Prof. Sagiv Shifman said:

"By tracking the differentiation of embryonic stem cells into neural cells and systematically disrupting nearly all genes in the genome, we created a map of the genes essential for brain development..."

The study established an open-access database to share findings with the research community. Genes involved in transcription and chromatin regulation were associated with dominant inheritance patterns, while metabolic genes like PEDS1 followed recessive patterns.

These findings highlight the correlation between gene function and inheritance patterns in disease causation.

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