A Gene That Controls Macular Development Identified
October 26, 2015
Researchers at the University of Iowa Stephen A. Wynn Institute for Vision Research announced today the discovery of a gene that controls the development of the human macula. The macula is the central portion of the retina needed for normal reading and driving vision. The discovery was electronically published today in the journal Ophthalmology.
“This is the culmination of more than 20 years of work,” said Kent Small, MD, 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 to chromosome 6 in 1992. It 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,” said Small. “Understanding how this gene works may help us treat many macular diseases more effectively in the future,” Small added.
“Scientists already know how to create new retinal cells from a patient’s skin,” said Edwin Stone M.D., PhD, the 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,” Stone added.
The study was funded in part by a $25 million gift from Stephen A. Wynn, chairman and chief executive officer of Wynn Resorts, Limited. “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,” said Wynn. “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,” he added.
“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,” said Jean Robillard M.D., interim president of the University of Iowa, and Vice President for Medical Affairs, University of Iowa Health Care.
About University of Iowa Health Care
University of Iowa Health Care is the state’s only comprehensive academic medical center, dedicated to providing world-class health care and health-related outreach services to all Iowans, the nation and around the globe. Based in Iowa City, UI Health Care includes University of Iowa Hospitals and Clinics, consistently ranked by U.S. News & World Report as one of “America’s Best Hospitals,” recognized by Forbes as #1 healthcare employer in its 2015 “best employers” list, and winner of the 2014 Magnet Prize® for Nursing. University of Iowa Children’s Hospital is the only hospital in Iowa nationally ranked by U.S. News & World Report as one of the country’s “Best Children’s Hospitals.” UI Health Care also includes the University of Iowa Roy J. and Lucille A. Carver College of Medicine, known for curricular innovation and breakthrough research, and University of Iowa Physicians, the state’s largest multi-specialty physician group practice, with more than 1,400 physicians, residents, and fellows. UI Health Care is a founding member of the UI Health Alliance, formed in 2012 to advance high-quality health care with hospitals and clinics throughout Iowa and contiguous communities. For more information visit About Us.