Scientists discover new genetic disease in children
INDIANAPOLIS (WISH) — Scientists have discovered a disease that causes severe intellectual delays in children.
The discovery is so new scientists don’t even have a name for it yet.
A team of researchers from multiple universities in the United Kingdom identified a gene responsible for moving electrical signals through the brain. Scientists then created a version of the same gene and looked at it in tadpoles. They found if the gene doesn’t function the way it should, the electrical signals are disrupted resulting in stunted developmental growth in tasks like learning and speech.
“This was a transformational piece of work for us,” said study co-author Dr. Annie Goodwin in a news release. “The ability to analyze human-like behaviors in tadpoles with sufficient accuracy to detect genetic disease-linked changes opens the opportunity to help identify a huge range of diseases. This is particularly important given that so many neurodevelopmental diseases are currently undiagnosed.”
The findings are published in the American Journal of Human Genetics.