Usher Syndrome

Nature's lubricant makes your body a well-oiled machine

The old adage goes that the human body is a machine. And in many ways that isn't far from the truth. Like any machine, the human body is made up of many individual parts moving together in a highly coordinated fashion. Parts ...

Jun 25, 2015
popularity11 comments 0

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.

Sep 30, 2012
popularity0 comments 0

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, ...

Aug 15, 2011
popularity0 comments 3

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 licensed under CC BY-SA

Latest Spotlight News

New role for an old protein: Cancer causer

A protein known to play a role in transporting the molecular contents of normal cells into and out of various intracellular compartments can also turn such cells cancerous by stimulating a key growth-control pathway.

Study reveals the genetic start-up of a human embryo

An international team of scientists led from Sweden's Karolinska Institutet has for the first time mapped all the genes that are activated in the first few days of a fertilized human egg. The study, which is being published ...