Blind World

UCSD Outlines Discovery For Rare Form Of Blindness.

New Findings Could Lead To Cure for Usher syndrome 1B.

May 14, 2003.



A newly published study by University of California San Diego researchers outlines a medical discovery that could lead to a cure for a rare form of blindness, university officials said Tuesday.

The report, published this week in the online journal Proceedings of the National Academy of Sciences, details the La Jolla-based team's isolation of a defective cellular process that causes Usher syndrome 1B.

The researchers at the UC San Diego School of Medicine documented the malfunction in mouse retinas, the university's Sue Pondrom said.

The anomaly causes sufferers, who are born with severe deafness, to go blind later in life.

The new findings "provide a necessary basis for gene therapy" to counter the disease, which afflicts thousands of Americans, said David Williams, senior author of the report.

"Usher syndrome 1B results from the loss of function of a single gene," he said. "Our study demonstrates the precise location where that gene needs to be corrected in the retina to provide a potential cure for the blindness associated with the disorder."

Such a remedy would be invaluable to patients, since most have grown up having to rely on sign language due to "profound" hearing loss, Williams added.

The researchers concluded that gene therapy to correct the ailment can be achieved by simply adding normal genes to affected cells.

The study was co-authored by Daniel Gibbs and Junko Kitamoto of the UCSD Department of Pharmacology and sponsored by the National Institutes of Health and the Foundation Fighting Blindness.

Copyright 2003 by All rights reserved.

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