Iowa Eye Association News Nov. 2003. Series 2, no. 38.

University of Iowa Department of Ophthalmology and Visual Sciences

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Carver Lab Offers Genetic Tests for Eye Diseases

The Carver Laboratory for Molecular Diagnosis, part of the University of Iowa Center for Macular Degeneration, has initiated a program to conduct gene-based diagnostic tests for a number of rare ocular diseases. Gene tests still offer useful information to patients with potentially blinding disorders who can use the information to make smart decisions about the future.

Tests for rare, but potentially blinding, genetic disorders are not commercially feasible for large industry because the potential market is too small to make the effort profitable. As a result, the needs of these patients are not being met.

The Carver Laboratory, which is non-profit, plans to focus on the diagnosis of diseases that are not otherwise being diagnosed by commercial services or diagnostic products. There is a modest fee for these services, which reimburses the laboratory only for the actual cost of conducting the diagnostic procedure in the clinical facilities.

The University of Iowa has engaged in research-based genetic testing for rare eye diseases since 1990. This has been funded in part by an endowment from the Carver Charitable Trust and in part by a wide variety of research funds. The Carver Laboratory for Molecular Diagnosis is ready to offer 24 non-profit tests for rare eye diseases (involving 31 genes) immediately and another 10 to 20 in the next two years.

Dr. Stone, with colleague Dr. Val C. Sheffield, hopes to generate national interest in Washington, D.C. for extending the scope of the Rare Diseases Act to include affordable access to the intellectual property necessary to perform tests for rare genetic disease. Dr. Stone presented these ideas on Capitol Hill in May 2003 and plans to continue to work on this issue until it is resolved in a manner that makes genetic testing for rare eye diseases widely available at a reasonable cost.

The August 29, 2003, Wall Street Journal carried an article about Dr. Ed Stone and the effect of patent ownership on genetic testing. The article, written by Ron Winslow, was entitled "Researchers Have Plan for Genetic Eye Tests Ignored by Industry."

About the Carver Lab

In 1996 the Roy J. Carver Charitable Trust of Muscatine, Iowa, contributed $2 million to the University of Iowa to create the Carver Endowment for Molecular Ophthalmology. The Department of Ophthalmology also contributed $1 million to this endowment. The availability of this permanent endowment made it possible for the Molecular Ophthalmology Laboratory to develop a research-based genetic testing unit, known as the Carver Laboratory for Ophthalmic Molecular Diagnosis. Since its inception, the laboratory has received over 30,000 samples from more than 15 countries worldwide. The availability of these samples has been critical to the success of the Carver Lab's inherited eye disease research program, which to date has mapped and/or identified over 30 genes responsible for human disease.

Visit the Carver Lab's website at http://www.CarverLab.org

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