New genetic cause of intellectual disability potentially uncovered in 'junk DNA'

Scientists have uncovered a rare genetic cause of intellectual disability in a historically overlooked part of the human genome: so-called junk DNA.

Factors such as complications during birth can trigger intellectual disabilities. However, in most cases, the disorders have an underlying genetic cause. So far, around 1,500 genes have been linked with various intellectual disabilities — but clinicians are still not always able to identify the specific cause of every patient's condition. One possible explanation for this gap in knowledge is that previous approaches for reading DNA have only focused on a tiny portion of it.

By submitting your information you agree to the Terms & Conditions and Privacy Policy and are aged 16 or over.The team compared the whole genomes of nearly 5,530 people who have a diagnosed intellectual disability to those of about 46,400 people without the conditions. These data were gathered from the U.K.-based 100,000 Genomes Project.

Related: 'Look at all this we don't understand': Study unravels whole new layer of Alzheimer's disease The new study joins a second that also linked RNU4-2 to intellectual disabilities. The research has opened up"an exciting new avenue in ID research," Catherine Abbott, a professor of molecular genetics at the University of Edinburgh in the U.K. who was not involved in either study, told Live Science in an email.

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