A research team led by scientists at the Hebrew University of Jerusalem and INSERM in France says it has identified for the first time a gene responsible for a severe neurodevelopmental disorder in children, in findings recently published in the peer-reviewed journal Nature Neuroscience.

Using CRISPR, a gene-editing tool, the researchers switched off roughly 20,000 genes, one by one, to study their role in brain development and discovered rare mutations in a gene called PEDS1 that cause profound developmental delay and reduced brain size.

The study, led by Prof. Sagiv Shifman from the Alexander Silberman Institute of Life Sciences at the Hebrew University, in collaboration with Prof. Binnaz Yalcin from INSERM, France, and researchers in Japan, used a mouse model to confirm their findings.

The breakthrough will help improve genetic counseling and open new directions for future medical research.

Shifman’s lab investigates the genetic causes of neurodevelopmental disorders and studies how genes shape brain development.

“We work on autism and neurodevelopmental disorders, so this is why we care about this,” Shifman said.

“We actually generated mutations in almost all the genes of the genome, one by one, which is quite incredible,” he said. “If you had told me 10 years ago that I would do something like that, I would say, this is fantastic.”

The scientists set out to discover which genes are required for an embryo’s stem cells to develop into neurons, the brain’s nerve cells.

Shifman explained that in early development, embryonic stem cells have the ability to become different cell types. However, turning from cell to neuron is a complicated dance involving the division of cells, what type of brain cells they become, and how they mature

When this process is disrupted, it can lead to neurodevelopmental disorders........

© The Times of Israel