Rare disease’s mutation could explain more common conditions

TREX1 is a gene that is supposed to direct the maintenance of the entire body’s DNA, but new research shows that when people are born with mutated TREX1, it causes catastrophic damage to the DNA over time, resulting in a deadly rare disease called retinal vasculopathy with cerebral leukoencephalopathy (RVCL). Published in Nature Communications, the research was led by teams at the Perelman School of Medicine at the University of Pennsylvania and the Brain Research Institute at Niigata University in Japan.

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