Usher Syndrome

Deafness genetic mutation discovered

Researchers at the University of Cincinnati (UC) and Cincinnati Children's Hospital Medical Center have found a new genetic mutation responsible for deafness and hearing loss associated with Usher syndrome type 1.

Genetics created Sep 30, 2012 | popularity 1 / 5 (1) | comments 0 | with audio podcast

Researchers develop Rx for deafness, impaired balance in mouse model of Usher syndrome

Jennifer Lentz, PhD, Assistant Professor of Otorhinolaryngology & Biocommunications and a member of the Neuroscience Center of Excellence at LSU Health Sciences Center New Orleans, is the lead author of a paper reporting ...

Genetics created Feb 04, 2013 | popularity not rated yet | comments 0 | with audio podcast

Biologists achieve repair and read-through of stop mutations responsible for Usher syndrome

After years of basic research, scientists at Johannes Gutenberg University Mainz (JGU) are increasingly able to understand the mechanisms underlying the human Usher syndrome and are coming ever closer to ...

Genetics created Dec 04, 2012 | popularity 3 / 5 (2) | comments 0 | with audio podcast

Preclinical development shows promise to treat hearing loss with Usher syndrome III

A new study published in the July 11 issue of the Journal of Neuroscience details the development of the first mouse model engineered to carry the most common mutation in Usher syndrome III causative gene (Clarin-1) in Nor ...

Neuroscience created Jul 10, 2012 | popularity not rated yet | comments 0 | with audio podcast

Gene mutation leads to impairment of 2 senses: Touch and hearing

People with good hearing also have a keen sense of touch; people with impaired hearing generally have an impaired sense of touch. Extensive data supporting this hypothesis was presented by Dr. Henning Frenzel and Professor ...

Genetics created May 01, 2012 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Study finds new role for protein in hearing

University of Iowa scientists have discovered a new role for a protein that is mutated in Usher syndrome, one of the most common forms of deaf-blindness in humans. The findings, which were published Aug. 8 in Nature Neuroscience, may he ...

Neuroscience created Aug 15, 2011 | popularity not rated yet | comments 3 | with audio podcast

Treatment approach to human Usher syndrome: Small molecules ignore stop signals

Usher syndrome is the most common form of combined congenital deaf-blindness in humans and affects 1 in 6,000 of the population. It is a recessive inherited disease that is both clinically and genetically ...

Genetics created Jul 01, 2011 | popularity not rated yet | comments 0

Latest advances in gene therapy for ocular disease are highlighted in Human Gene Therapy

Disorders of the eye are excellent targets for gene therapy because the ocular environment is readily accessible, relatively easy to monitor, and sequestered from the rest of the body. A series of articles ...

Genetics created May 09, 2011 | popularity not rated yet | comments 0


Usher syndrome (sometimes referred to as "Usher's syndrome") is a relatively rare genetic disorder that is a leading cause of deafblindness and that is associated with a mutation in any one of 10 genes. Other names for Usher syndrome include Hallgren syndrome, Usher-Hallgren syndrome, rp-dysacusis syndrome and dystrophia retinae dysacusis syndrome. Usher syndrome is incurable at present; however, using gene therapy to replace the missing gene, researchers have succeeded in reversing one form of the disease in knockout mice.

This text uses material from Wikipedia and is available under the GNU Free Documentation License.

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