Usher syndrome is the leading cause of combined hearing and vision loss in the U.S.

Usher syndrome is a devastating genetic disorder that first robs its victims of their hearing, and then slowly takes away their vision as they approach adulthood. The leading cause of combined deafness and blindness in the United States, Usher syndrome affects an estimated 30,000 to 40,000 Americans with as many as 30 million people who may be carriers of Usher genes.

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Opening the World to Children With Usher Syndrome

Children with Usher syndrome are born with varying degrees of hearing loss. Vision loss due to retinitis pigmentosa (RP), an eye disorder that results in gradual loss of vision, commonly is not identified until a child reaches adolescence. Loss of these two vital senses shuts these individuals out of the world around them and prevents them from experiencing many of life's pleasures and opportunities.

Although little known, Usher syndrome is at least as common as Huntington's Disease, Amyotrophic Lateral Sclerosis (ALS, or as it is better known, Lou Gehrig's Disease) and certain forms of Muscular Dystrophy.

The study of Usher syndrome is among the most promising research programs underway at Boys Town National Research Hospital. Foremost among the hospital's achievements has been the identification of three of the 10 genes suspected of causing the disorder. The discovery of these genes provides the first solid foundation on which to build knowledge about the underlying genetic defect responsible for Usher syndrome and the long-term outlook for its victims.

This pioneering work prompted Congress to provide start-up funding to establish the National Center for the Study and Treatment of Usher Syndrome at the Hospital.

An International Effort

Establishment of the Center is intensifying efforts by Boys Town Hospital scientists to conquer Usher syndrome. Critical to their quest is the Collaborative Usher Syndrome Project through which Hospital geneticists have enlisted the active participation of more than 2,000 Usher patients and their families in their Usher Syndrome research. Data from this collaboration is yielding impressive results, including statistical information regarding prevalence of the disorder, allowing researchers to make informed predictions about the number of people carrying Usher genes. Long-term goals of these studies involve the development of medical interventions to arrest the progress and reverse the damage of the disorder, and to provide the methods and technology for treatment and rehabilitation.

Strengthening Our Resolve

Boys Town National Research Hospital is offering Usher syndrome families new hope through its research. The success of Boys Town Hospital scientists in obtaining highly competitive National Institutes of Health grant support for their research is but one measure of the high regard accorded to the their research by their fellow scientists across the country. In addition, the U.S. Health Resources and Services Administration (HRSA) provided substantial funding for initial construction and equipping of the new Usher Syndrome Center.

If we are to conquer Usher syndrome, however, much more needs to be done. The new Usher Syndrome Center must attract experts in vision research, develop new research programs, train graduate students and postdoctoral fellows and retain the highly acclaimed scientists already working on the disorder. To attract and retain the best scientists in all areas, we must make investments in the latest equipment, secure additional funds for high-risk projects, and endow research chairs to provide secure funding for scientists willing to devote maximum efforts to solving the puzzle of Usher syndrome.

The plan for conquering Usher syndrome involves a two-pronged attack involving both treatment and prevention. We must expand our research efforts many times over to identify all of the genes causing Usher syndrome, and we must develop effective medical interventions to help those already afflicted by disorder. At the same time, researchers must probe the intricate biochemical and physiological mechanisms through which Usher syndrome takes its toll on both hearing and vision with the ultimate goal of prevention.

For the first time, the promise of victory is within reach but not without additional funding to allow Boys Town Hospital scientists to intensify their efforts.

Our goal is to be able to tell a parent, "Yes, we can help through intervention and promising new treatments on the horizon," and "Yes, we can prevent the disorder from affecting your grandchildren and great-grandchildren."

You can help us fulfill this promise with your contribution to the National Center for the Study and Treatment of Usher Syndrome. Contributions are tax deductible and will be applied directly to Usher syndrome research programs and needed equipment.