Latest Usher syndrome Stories

2011-11-21 23:12:05

Gene-therapy trial will attempt to restore hearing in deaf mice Researchers have found long-sought genes in the sensory hair cells of the inner ear that, when mutated, prevent sound waves from being converted to electric signals — a fundamental first step in hearing. The team, co-led by Jeffrey Holt, PhD, in the department of otolaryngology at Children´s Hospital Boston, and Andrew Griffith, MD, PhD, of the NIH´s National Institute on Deafness and other Communication...

2011-07-01 13:32:52

New treatment approach shall soon be ready for use in Usher syndrome patients 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 heterogeneous. In the most severe cases, patients are born deaf and begin to suffer from a degeneration of the retina in puberty, ultimately resulting in complete blindness. These patients experience major...

2011-06-16 00:00:30

The Foundation Fighting Blindness, a national nonprofit that drives eyesight-saving research, will honor Ophthalmologist and Virginia Eye Institute Founder Anthony D. Sakowski, Jr., M.D., F.A.C.S., at the Richmond Dining in the Dark event. The unique luncheon will take place at noon on June 16 at the Richmond Marriott. Richmond, VA (PRWEB) June 15, 2011 The Foundation Fighting Blindness, a national nonprofit that drives eyesight-saving research, will honor Ophthalmologist and Virginia Eye...

2011-03-11 08:44:19

(Ivanhoe Newswire) -- Ten years ago, research scientist began trying to understand how a specific feature of a cell called an L-type calcium channel might be related to genetic deafness syndrome. This specific feature created a knockout mouse missing both copies of the CACNA1D gene; a gene which makes protein, and allows calcium to flow into other cells. The CACNA1D gene is also important in relaying important instructions from one cell to another. Although the knockout mouse was created...

2010-11-17 13:16:45

Using a combination of special techniques to capture specific DNA sequences and high-throughput technology to sequence them, scientists from the Baylor College of Medicine Human Genome Sequencing Center and the University of Iowa developed a test to simultaneously screen more than 50 genes known to cause hearing loss and deafness "“ a time- and cost-saving analysis that will provide important answers to parents and deaf children in the future. "This use of massively parallel sequencing...

2010-11-15 21:33:32

Comprehensive genetic test for inherited hearing loss is cheaper and faster than the current methods, which sequence genes 1 at a time Pinpointing the exact genetic cause of inherited deafness has always involved sequencing one gene at a time, a process that can take up to a year and cost roughly $1,000 per gene. It would cost around $75,000 to test all known deafness causing genes using this approach. Now University of Iowa researchers working with colleagues at Baylor College of Medicine...

2010-06-14 13:06:09

A new gene explains variability in symptoms Usher syndrome (USH), an inherited condition involving both hearing and vision loss, is not a simply recessively inherited disease, a scientist will tell the annual conference of the European Society of Human Genetics today (Saturday). Dr. Hanno Bolz, Associate Medical Director of the Bioscientia Centre for Human Genetics, Ingelheim, Germany, and active in teaching and research at the University Hospital of Cologne, will say that his team's research...

Word of the Day
  • A cloth or covering, more or less ornamented, laid over the saddle or furniture of a horse, especially of a sumpter-horse or horse of state.
  • Clothing, especially sumptuous clothing; equipment; outfit.
  • To cover with a caparison, as a horse.
  • To dress sumptuously; adorn with rich dress.
This word ultimately comes from the Medieval Latin 'cappa,' cloak.