MODIFIED FROM © ISTOCK.COM/SIMCHIn 2015, pathologist Jonathan Lin at the University of California, San Diego, School of Medicine started to receive skin and blood samples in the mail. Lin and his colleagues had recently discovered a gene linked to a congenital disease known as achromatopsia. People with achromatopsia have damage to a part of the retina known as the fovea, and also to the photoreceptors in the retina that create color vision. Consequently, they see the world in a black-and-white blur. “This is a rare, inherited disease,” Lin says. “There is no cure.”
Earlier that year, Lin and his collaborators had linked the condition to mutations in the gene Activating transcription factor 6 (ATF6), which codes for a key protein regulator of cellular stress—specifically, a process known as the unfolded protein response—and of homeostasis in cells’ endoplasmic reticulum. A missense mutation, which results in an arginine amino acid being replaced by a cysteine in the ATF6 protein, compromises the transcription factor’s activity, the team found (Nat Genetics, 47:757–65, 2015). Now, patients were sending in their samples to see whether Lin and his colleagues could help determine if mutations to their ATF6 genes were underlying their vision problems.
“The 2015 paper was eye-opening,” says Gustavo Aguirre, a medical geneticist and ophthalmologist at the University of Pennsylvania who was not ...
