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Collaboration identifies critical macular-development gene

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Posted October 27, 2015

Researchers at the University of Iowa’s Stephen A. Wynn Institute for Vision Research announced the discovery of a gene that controls the development of the human macula. The macula is the central portion of the retina and is needed for normal reading and driving vision. The discovery was electronically published in the journal Ophthalmology.

photograph of the retina of the human eye, with overlay diagrams showing the positions and sizes of the macula, fovea, and optic disc. Image credit: Danny Hope via Wikimedia, CC BY 2.0

photograph of the retina of the human eye, with overlay diagrams showing the positions and sizes of the macula, fovea, and optic disc. Image credit: Danny Hope via Wikimedia, CC BY 2.0

“This is the culmination of more than 20 years of work,” says Kent Small, M.D., a retina specialist affiliated with Cedars-Sinai Board of Governors Regenerative Medicine Institute in Los Angeles. Small, the study’s lead author, first mapped the gene causing North Carolina macular dystrophy on chromosome 6 in 1992. The current findings ultimately required an international team of 20 investigators using data from the Human Genome Project and an elaborate computer analysis to identify the actual mutations in intergenic DNA near the PDRM13 gene.

“Individuals with this disease have normal eyes except that they fail to form maculas,” Small says. “Understanding how this gene works may help us treat many macular diseases more effectively in the future.”

“Scientists already know how to create new retinal cells from a patient’s skin,” says Edwin Stone, M.D., Ph.D., director of the Wynn Institute for Vision Research and a coauthor of the study. “This new finding will help us learn how nature builds a macula so that scientists in the future can reconstruct an injured macula using the patient’s own cells.”

The study was funded in part by a $25 million gift from Stephen A. Wynn, chairman and chief executive officer of Wynn Resorts, Ltd.

“As a person who knows firsthand what it is like to lose vision from a rare, inherited eye disease, I want to do everything I can to help others who are similarly affected keep the vision they have and eventually get back what they have lost,” Wynn says. “I am thrilled by the pace of the scientific progress that has occurred in the past few years, and I feel that the prospect of finding a cure is possible and probable in the short term and certain in the long term.”

“As a public research university working to solve some of society’s greatest health and medical challenges, we are very proud of this important new discovery,” says Jean Robillard, M.D., interim president of the University of Iowa and vice president for medical affairs, University of Iowa Health Care.

Source: University of Iowa

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