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University of Iowa News Release


April 28, 2008

UI contributes to gene therapy breakthrough for blinding eye disease

Researchers at the University of Iowa played a key role in a landmark gene therapy breakthrough reported Sunday, April 27, in an online article in the New England Journal of Medicine.

The study reported improvement in vision following gene transfer to the retina in three patients with an inherited form of blindness known as Leber congenital amaurosis or LCA. The study was carried out at the Children's Hospital of Philadelphia by an international team led by the University of Pennsylvania, the Children's Hospital of Philadelphia, the Second University of Naples and the Telethon Institute of Genetics and Medicine (both in Italy), the UI and several other American institutions.

This is the first report of successful gene therapy of an inherited eye disease in humans. Although the patients have not achieved normal eyesight, the preliminary results set the stage for further studies of an innovative treatment for LCA and possibly other retinal diseases. Patients' vision improved from detecting hand movements to reading lines on an eye chart.

Edwin Stone, M.D., Ph.D., UI professor of ophthalmology and visual sciences and a Howard Hughes Medical Institute investigator, led the genetic testing portion of the study. Stone's group developed a method for distinguishing disease-causing mutations from benign genetic variants, and this method was used to choose the patients who were treated in the gene therapy study. The Iowa group also developed a highly efficient nonprofit testing strategy that has allowed genetic testing for LCA to be offered on a national scale.

"This is a very exciting day for everyone involved in caring for patients with inherited eye disease," Stone said. "We are very pleased that the Carver Lab at the University of Iowa was able to contribute to this important step forward."

Among those recognizing the breakthrough were John and Marcia Carver, members of the family who donated $10 million in 2005 to create and name the John and Marcia Carver Nonprofit Genetic Testing Laboratory and the associated Carver Family Center for Macular Degeneration at the UI. "We were very happy to hear of this extraordinary scientific result and excited that the Carver Lab had an important hand in it," John Carver said.

The UI is also home to Project 3000 (, a philanthropically supported grassroots effort to find all 3,000 people in the United States affected with LCA and to offer them a genetic test whether or not they have insurance coverage to pay for it.

Project 3000 was created in 2006 by Stone, Derrek Lee, who is first baseman of the Chicago Cubs, and Wyc Grousbeck, who is co-owner and CEO of the Boston Celtics. Lee and Grousbeck have children affected with LCA.

"Now that the gene therapy is looking good, we really need to step up our efforts to find all the patients and get them tested," Lee said.

"Project 3000 is a great model for making progress with other inherited eye diseases," Grousbeck agreed. "Getting the word out about this positive outcome should inject a lot of energy into the effort to cure all inherited forms of blindness."

Sally Mason, UI president, said, "We are proud of the leadership of our university in developing ways to provide affordable genetic testing for rare inherited diseases to patients throughout the United States. This great scientific result underscores the value of this effort."

Her views were shared by Jean Robillard, M.D., UI vice president for medical affairs, who said, "Advancing the understanding and treatment of eye diseases is one of the hallmarks of our UI Health Care research and clinical endeavors. We are proud that Dr. Stone and his colleagues contributed to this study and look forward to their continued work on LCA and other diseases."

To learn more, see the Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine release at:

STORY SOURCE:  University of Iowa Health Care Media Relations, 5141 Westlawn, Iowa City, Iowa 52242-1178

MEDIA CONTACTS: Joe Schmidt, UI Department of Ophthalmology and Visual Sciences, 319-384-8529 (office), 434-825-7375 (cell),; Becky Soglin, UI Health Care Media Relations, 319-335-6660,