Mapping the genetic architecture of the human eye

Researchers have mapped the genetic architecture of the human eye by pairing whole‑genome sequencing data alongside RNA profiles of donated human eyes.

The study, which was published in Nature Communications, involved examining tissues from the neurosensory retina and retinal pigment epithelium of 201 donated human eyes.

An international research team led by the University of Manchester analysed DNA differences with gene activity in these tissues.

Study author, Dr Jamie Ellingford, of the University of Manchester, noted that the study represents progress towards “decoding the complex genetic architecture” of the human eye.

“It opens the door to new strategies for protecting and restoring vision in the future,” he said.

“It reveals how both common and rare genetic differences shape the way they are expressed in the human retina,” Ellingford highlighted.

Professor Simon J Clark, of the University of Tübingen in Germany, expressed his gratitude for the generosity of donors and their families.

“These sorts of fundamental discoveries are only possible by using very well characterised human donor material,” he said.

“We are incredibly lucky to have access to one of Europe’s largest human eye donor repositories, founded originally in Manchester back in 2015,” Clark added.