The discovery of the genes that cause Usher syndrome and the availability of useful tests for disease-causing alterations in these genes are both so new that most affected individuals are currently unaware that such testing exists. Project Usher seeks to identify as many people as possible in the United States affected with Usher syndrome and offer them state of the art genetic testing on a nonprofit basis through the John and Marcia Carver Nonprofit Genetic Testing Laboratory at the University of Iowa.
Project Usher has five major goals
- Provide hope. Many individuals affected with Usher syndrome have been told directly or indirectly that "there is nothing that can be done to improve/restore their vision." Project Usher intends to reverse this message and make it clear that there is much that individuals with Usher can do as a group to help combat this disease.
- Provide accurate information. By collecting some basic clinical information from thousands of people affected with Usher syndrome, doctors will be able to learn how each genetic subtype of Usher syndrome behaves over time and will be able to use this information to give newly diagnosed individuals and their families more accurate information about what to expect.
- Find the remaining genes. The genes responsible for about 20% of Usher cases remain to be discovered. Scientists believe that they will be able to identify the remaining genes by gathering samples from the hundreds of individuals affected by Usher syndrome whose genes have not yet been discovered. Genetic testing is the only way of finding individuals whose have Usher syndrome due to as yet undiscovered genes.
- Find cures. Trials of treatments for Usher's will require access to individuals affected with specific genetic subtypes of Usher's. We estimate that there are 20,000 Americans affected with Usher syndrome, but there are at least 12 genes involved which means that each genetic type is relatively rare. Even the most common genetic type of Usher syndrome occurs in less than 12,000 people in the United States and the rarest types have less than a few hundred individuals. Project Usher seeks to identify as many individuals as possible with each genetic subtype so that clinical trials will never be slowed by a lack of eligible subjects who would like to participate.
- Make a genetic test for Usher syndrome available to all who might benefit from one. Many insurance companies are currently unfamiliar with the value of genetic testing for Usher syndrome. By encouraging thousands of individuals with Usher syndrome to seek payment for their nonprofit genetic tests, Project Usher intends to demonstrate the value of such testing to doctors and insurance companies across the country. As a result, genetic testing will become part of the "standard of care" for Usher Syndrome in the United States. For individuals who do not have medical insurance and who cannot afford a molecular test, Project Usher will maintain a philanthropic fund that can support the testing of these individuals (click here for details)