Cause of genetic disorder found in “dark matter” of DNA
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.
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