Recipe for Hope Through Genetic Research

• Take just one sight-robbing disease that affects about 3,000 Americans
• Add a generous helping of effort to identify all 3,000 individuals, an effort led by prominent figures from Major League Baseball and the National Basketball Association
• Add a full measure of world-class genetic research
• Heat and stir until the genetic causes are understood and a cure developed

Repeat the recipe for dozens of other sight-robbing diseases, and you have the University of Iowa's "Project 3000," whose first objective is to identify all 3,000 U.S. men, women, and children who have LCA (Leber's Congenital Amaurosis).

Along the way, Project 3000 will become the first program of its kind to offer genetic testing for any eye disease to every affected person in the country.

According to Edwin Stone, MD, PhD, Seamans-Hauser Chair in Molecular Ophthalmology at the Roy J. and Lucille A. Carver College of Medicine, Project 3000 likely will achieve its first objective and become the "blueprint" recipe for attacking dozens of other sight-robbing diseases.

Based at the UI Carver College of Medicine, Project 3000 will offer state-of-the-art genetic testing to identify individuals on a nonprofit basis through the John and Marcia Carver Nonprofit Genetic Testing Laboratory. For families who lack health insurance, philanthropic donations will be available to help reduce the cost of the tests.

LCA is an inherited form of blindness that usually becomes apparent shortly after birth. At least nine different genes are currently known to cause about 65 percent of all cases. The discovery of the genes that cause LCA and the availability of useful tests for disease-causing alterations in these genes are so new that most individuals affected are currently unaware that such testing exists.

Although it is not currently possible to restore vision to affected people, researchers have restored vision in animals with similar disorders. More importantly, it is expected that treatments will soon be ready for testing in human beings. For these treatment trials to be effective, knowledge of the disease-causing genes is important.

Project 3000, spearheaded by Chicago Cubs star Derrek Lee and Boston Celtics CEO and co-owner Wyc Grousbeck, both of whom have children with LCA, and the Carver Non-Profit Genetic Testing Lab, seeks to identify and inform all individuals affected by LCA in the United States.

Project 3000 has five major goals:

• Provide hope. Many individuals affected with LCA have been told directly or indirectly "there is nothing that can be done." Project 3000 intends to reverse this message and make it clear that there is much that the 3000 individuals with LCA can do as a group to help combat this disease.
• Provide accurate information. By collecting some basic clinical information from people affected with LCA, doctors will be able to learn how each genetic subtype of LCA 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 one third of LCA cases remain to be discovered. Scientists believe that by gathering samples from the hundreds of individuals affected by LCA whose genes have not yet been discovered, that they will be much more likely to find all of the remaining ones.
• Find cures. Trials of new treatments for LCA will require access to individuals affected with specific genetic subtypes of LCA. Even the most common genetic types of LCA occur in less than 300 people in the United States. Project 3000 seeks to identify as many individuals as possible with each genetic subtype so that clinical trials will never be slowed by a lack of affected individuals.
• Make genetic testing the standard of care for LCA. Many insurance companies are currently unfamiliar with the value of genetic testing for LCA. By encouraging thousands of individuals with LCA to seek payment for their nonprofit genetic tests, Project 3000 intends to demonstrate the value of such testing to doctors and insurance companies across the country.

Partnering with the Carver Nonprofit Genetic Testing Laboratory is the Center for Bioinformatics and Computational Biology, a joint research unit of the UI College of Engineering and Carver College of Medicine. The center develops computer-based approaches for accessing, interpreting and understanding genetic information as it applies to basic biological science and applied medical research. Among collaborative research projects with the Genetic Testing Laboratory and Carver Family Center for Macular Degeneration, the Center for Bioinformatics and Computational Biology is involved in studies of the molecular genetics of macular degeneration, glaucoma, and other blinding eye diseases.

It is anticipated that numerous organizations will volunteer to help get the Project 3000 message out to individuals affected with LCA.

For more information:

Department of Ophthalmology and Visual Sciences

Project 3000

Edwin Stone, MD, PhD

Roy J. and Lucille A. Carver College of Medicine

John and Marcia Carver Nonprofit Genetic Testing Laboratory

Carver Family Center for Macular Degeneration

Center for Bioinformatics and Computational Biology

UI College of Engineering