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For the first time, scientists have used new technology which analyses the whole genome to find the cause of a genetic disease in what was previously referred to as “junk DNA”. Pancreatic agenesis results in babies being born without a pancreas, leaving them with a lifetime of diabetes and problems digesting food. In a breakthrough for genetic research, teams led by the University of Exeter Medical School and Imperial College London found that the condition is most commonly caused by mutations in a newly identified gene regulatory element in a remote part of the genome, which can now be explored thanks to advances in genetic sequencing.

In a study published in Nature Genetics, the team discovered that the condition is caused by mutations in genomic “dark matter”, the vast stretches of DNA that do not contain genes that accounts for 99 per cent of the human genome. Instead, it is responsible for making sure that genes are “switched on” at the right time and in the right part of the body. The effects of this region on human development is only beginning to be understood, thanks to technologies which allow scientists to analyse the whole genome – all 3 billion letters in our DNA codes.

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