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UNMC, Boys Town National Research Hospital Researchers Locate Gene That Causes Combined Deafness And Blindness

UNMC, Boys Town National Research Hospital Researchers Locate Gene That Causes Combined Deafness and Blindness A team of researchers from the University of Nebraska Medical Center and Boys Town National Research Hospital has located the gene responsible for Usher syndrome Type IIa -- the leading cause of combined deafness and blindness in the industrialized world.

The discovery, which could lead to an eventual cure for the genetic disorder, is reported in the June 12 edition of Science.

"This is not only an important step forward in our understanding of disorders that affect both hearing and vision, but it will provide further insight into the physiology of vision and hearing," said Janos Sumegi, D.Sc., M.D., Ph.D., professor of pathology/microbiology at UNMC.

About four in 100,000 people suffer from Usher syndrome, a genetic disorder that causes moderate to severe hearing loss and the juvenile onset of retinitis pigmentosa -- one of the most common causes of blindness. It was first identified as a genetic syndrome by a clinician named Charles Usher in 1935. Of the almost 16,000 deaf and blind people in the United States, more than half are believed to have Usher syndrome.

During the past 10 years, genetic studies have been conducted to localize the genes responsible for Usher syndrome. As a result, three types of the disorder have been identified: Type I, Type II and Type III. Usher syndrome Type IIa is the most common type.

The identification of the Type IIa gene is the result of a collaborative effort during the past six years between Boys Town National Research Hospital and UNMC. The first step in the gene identification process was to localize the chromosomal region where the gene responsible for the genetic disorder is located. This process was conducted at Boys Town National Research Hospital under the direction of William Kimberling, Ph.D., director of genetic studies, with the help of resear
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Contact: Tom O'Connor
toconnor@unmc.edu
(402) 559-4690
University of Nebraska Medical Center
11-Jun-1998


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