Scientists at the University of Exeter have discovered the cause of a rare disorder, known as congenital hyperinsulinism (CHI), within a part of the genome that has been largely unexplored in medical genetics. The team found genetic changes in a noncoding region that controls turning genes on or off, which they say represents a very rare incidence of a disease being caused by genetic changes outside the exome. It is also the first time that variants have been shown to affect a regulatory gene, HK1, that is not normally switched on in the relevant tissue, in this case, the pancreas. The findings, the scientists suggest, could help unlock causes of other rare conditions.
