Discovery of Deafness Gene Holds Promise for Therapeutics

Researchers at the University of Cincinnati (UC) and Cincinnati Children's Hospital Medical Center have discovered a new genetic mutation responsible for deafness and hearing loss, associated with Usher syndrome type 1. With their findings published in the Sept. 30 advance online edition of the journal Nature Genetics, researchers believe that they can now create therapeutic targets specifically for those at risk for this system. Partners in the study include the National Institute on Deafness and other Communication Disorders (NIDCD), Baylor college of Medicine and the University of Kentucky. Usher syndrome is a genetic defect that causes deafness, night-blindness and a loss of peripheral vision through the progressive degeneration of the retina. "In this study, researchers were able to pinpoint the gene which caused deafness in Usher syndrome type 1 as well as deafness that is not associated with the syndrome through the genetic analysis of 57 humans from Pakistan and Turkey," says Zubair Ahmed,...

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Smell Therapy: Repairing Cilia in Live Mice

A research team from Johns Hopkins and other institutions report that by restoring the tiny hair-like projections to defective cells in the olfactory system is enough to restore a lost sense of smell. The experimental results were published online in Nature magazine and, as of the publication, are believed to be the first successful application of gene therapy to restore this function in live mammals. An olfactory expert, Randall Reed, Ph.D., professor of molecular biology and genetics and co-director of the Center for Sensory Biology at the Johns Hopkins Institute for Basic Biomedical Sciences, admonishes researchers that they are still years away from applying the same therapy in humans, and that the process will most likely only prove effective for those who have anosmia (lack of smell) as a result of genetic disorders. "But our work has already contributed to a better understanding of the cellular factors involved in anosmia, and that will give us insights into other neurological disorders, as w...

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