Usher Syndrome News and Research

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Usher syndrome is the most common condition that affects both hearing and vision. A syndrome is a disease or disorder that has more than one feature or symptom. The major symptoms of Usher syndrome are hearing loss and an eye disorder called retinitis pigmentosa, or RP. RP causes night-blindness and a loss of peripheral vision (side vision) through the progressive degeneration of the retina. The retina is a light-sensitive tissue at the back of the eye and is crucial for vision. As RP progresses, the field of vision narrows—a condition known as “tunnel vision”—until only central vision (the ability to see straight ahead) remains. Many people with Usher syndrome also have severe balance problems.

There are three clinical types of Usher syndrome: type 1, type 2, and type 3. In the United States, types 1 and 2 are the most common types. Together, they account for approximately 90 to 95 percent of all cases of children who have Usher syndrome.

OtoSCOPE method offers single-run genetic testing for hearing loss

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 have developed a test that can screen all of the genes known to cause deafness in a single run, in one to three months and for about $2,000.

16 Nov 2010

Dr. Hastings receives grant for Spinal Muscular Atrophy research

Michelle Hastings, PhD, Assistant Professor in the Department of Cell Biology and Anatomy, in the Chicago Medical School of Rosalind Franklin University of Medicine and Science, has been awarded a five-year $1.68 million grant from the National Institutes of Health to support her research aimed at investigating treatments for the fatal children's disease, Spinal Muscular Atrophy (SMA).

11 Aug 2010

Research on genetic mutations could lead to accurate diagnosis of USH, says scientist

Usher syndrome, 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 challenges the traditional view that USH was inherited as a single gene disorder, and shows that it may result from at least two different genetic mutations.

14 Jun 2010

Acucela to present data on ACU-4429 oral visual cycle modulator for dry AMD at Retina International meeting

Acucela, a clinical-stage biotechnology company focused on developing new treatments for blinding eye diseases, announced today that Ryo Kubota, M.D., Ph.D., Acucela's chairman, president and chief executive officer, has been invited to participate in Retina International's annual Scientific & Medical Advisory Board meeting being held in Fort Lauderdale, Florida on May 3, 2010.

3 May 2010

NYU professor conducts genetic screening at academic campuses in Boston

Dr. Harry Ostrer, professor of pediatrics, pathology and medicine at NYU Langone Medical Center will be conducting genetic screening at four college campuses in Boston on February 1st and 2nd. Individuals interested in being screened should sign- up online at www.med.nyu.edu/genetics.

28 Jan 2010

Gene therapy may help correct molecular flaws that cause brain disease

Neuroscientists have forged an unlikely molecular union as part of their fight against diseases of the brain and nervous system.

9 Jan 2010

TECHGENE project: CLC bio selected as software partner

Today the EU project, TECHGENE, that focuses on developing Next Generation Sequencing (NGS) diagnostic tools for genetic disorders, announced that CLC bio has been selected as the software partner for this project.

9 Dec 2009

Discovery of molecular defect involved in hearing loss

Scientists from The Scripps Research Institute have elucidated the action of a protein, harmonin, which is involved in the mechanics of hearing.

13 May 2009

Antibiotics could treat cystic fibrosis, other genetic diseases

By modifying the properties of the common antibiotic gentamicin, researchers at the Technion-Israel Institute of Technology have developed what could become an effective treatment for many human genetic diseases, including cystic fibrosis (CF), Duchenne muscular dystrophy, Usher Syndrome and numerous cancers.

8 Apr 2009

Study offers clues to beating hearing loss

Researchers at the University of Leeds have made a significant step forward in understanding the causes of some forms of deafness.

4 Mar 2009

Molecular motors in cells work together in close coordination

Even within cells, the left hand knows what the right hand is doing.

16 Feb 2009

New approach to treating vision loss caused by type 1 Usher syndrome

A new approach to treating vision loss caused by type 1 Usher syndrome (USH1), the most common condition affecting both sight and hearing, will be unveiled by a scientist at the annual conference of the European Society of Human Genetics tomorrow (Tuesday 3 June).

2 Jun 2008

Cilia research may help find cure for inherited eye diseases

Researchers at the University of Pennsylvania School of Medicine have identified proteins in the rod and cones of the eye that could lead to the discovery of the genetic causes of a host of inherited eye diseases.

23 Jun 2007

Fish oil may help protect against age-related macular degeneration

A paper published in Trends in Neuroscience by Nicolas G. Bazan, MD, PhD of the Neuroscience Center of Excellence at LSU Health Sciences Center in New Orleans, reports on the role that the omega-3 fatty acids in fish oil play in protecting cells in the retina from degenerative diseases like retinitis pigmentosa and age-related macular degeneration.

7 Apr 2006

Natural selection has played an important role in patterning the human genome

The most detailed analysis to date of how humans differ from one another at the DNA level shows strong evidence that natural selection has shaped the recent evolution of our species, according to researchers from Cornell University, Celera Genomics and Celera Diagnostics.

23 Oct 2005

Discovery of molecule that is part of the machinery that mediates the sense of hearing

A group of scientists at The Scripps Research Institute, at the University of California in San Diego, and at the Oregon Hearing Research Center and Vollum Institute at Oregon Health & Science University have discovered a key molecule that is part of the machinery that mediates the sense of hearing.

28 Mar 2004