1:07pm

Tue October 2, 2012
Science and Tech

UK Physiologist Helps Identify Usher Syndrome Gene

A University of Kentucky physiologist has teamed with researchers from several institutions to report a novel type of gene associated with Usher Syndrome, a hereditary disease that causes individuals to lose both hearing and sight. The work of Gregory Frolenkov, associate professor at the University of Kentucky College of Medicine, and others led by Zubair M. Ahmed from the University of Cincinnati and Cincinnati Children's Hospital Medical Center, is being published in the November 2012 issue of Nature Genetics.

In the United States, approximately six of every 100,000 babies have Usher Syndrome. About 3 to 6 percent of all children who are deaf and another 3 to 6 percent of children who are hard of hearing have Usher Syndrome. According to the National Institute on Deafness and Other Communication Disorders, parents who have normal hearing and vision usually do not know if they are carriers of an Usher gene mutation. It is not yet possible to determine whether a person who does not have a family history of Usher syndrome is a carrier. Several genes associated with different types of Usher Syndrome have been identified.