UI contributes to gene therapy breakthrough for blinding eye disease

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 (http://www.project3000.org),
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: http://www.newswise.com/articles/view/540141/

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), joe-schmidt@uiowa.edu; Becky Soglin, UI Health Care Media Relations, 319-335-6660, becky-soglin@uiowa.edu