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.

First small molecule targeted therapy holds promise for Usher syndrome

Usher syndrome (USH) is characterized by hearing loss or deafness at birth and progressive vision loss, and is the most common cause of inherited dual sensory deficit. No treatment is currently available to stop or slow the progression of vision or hearing loss in USH3, one of three clinical classifications for USH that are further divided into subtypes and all associated with different genes.

27 Apr 2016

RPB grants $500,000 to accelerate treatments for Retinitis Pigmentosa

Research to Prevent Blindness (RPB), the leading eye research foundation, is providing $500,000 to accelerate the development of treatments for Retinitis Pigmentosa (RP) -- a family of retinal diseases that progressively create extreme tunnel vision, loss of night vision and leave affected patients legally blind by the age of 40.

5 Jun 2014

Study provides better understanding of intestinal pathologies associated with inherited, infectious diseases

The "brush border" - a densely packed array of finger-like projections called microvilli - covers the surfaces of the cells that line our intestines.

17 Apr 2014

Researchers investigate how gene regulation affects evolution and development

Johannes Gutenberg University Mainz (JGU) has received EUR 900,000 for three years to investigate, jointly with the Institute of Molecular Biology (IMB), how gene regulation affects evolution and development.

3 Apr 2014

E-Rare funding recommended for European young investigators network for Usher syndrome

Based on a ranking list that was established by the EU Scientific Evaluation Committee, the E-Rare funding bodies recommended the European young investigators network for Usher syndrome coordinated by Dr. Kerstin Nagel-Wolfrum from Johannes Gutenberg University Mainz for funding. Out of 82 submitted projects, EUR-USH was among the 11 excellent scientific projects that were chosen after a competitive two-step scientific evaluation by peers. In October 2013, researchers held their kick-off meeting in Nijmegen, the Netherlands.

16 Nov 2013

Scientists evaluate two different strategies to treat 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 finding a successful treatment approach. The scientists in the Usher research group of Professor Dr. Uwe Wolfrum are evaluating two different strategies. These involve either the repair of mutated genes or the deactivation of the genetic defects using agents.

6 Dec 2012

CIB2 gene responsible for progression and severity of Usher syndrome

Usher syndrome is a hereditary disease in which affected individuals lose both hearing and vision. The impact of Usher syndrome can be devastating. In the United States, approximately six in every 100,000 babies born have Usher syndrome.

2 Oct 2012

CIB2 genetic mutation responsible for deafness associated with Usher syndrome type 1

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.

1 Oct 2012

Planarian flatworms now a model system for studying eye development and eye diseases

Planarian flatworms have come under intense study for their renowned ability to regenerate any missing body part, even as adults. But now they may take on a starring role as a model system for studying eye development and eye diseases in vertebrates, including humans.

3 Aug 2012

Foundation Fighting Blindness grants US$125,000 to Oxford BioMedica for UshStat Phase I/IIa trial

Oxford BioMedica plc, the leading gene-based biopharmaceutical company, today announces that the US non-profit organisation, the Foundation Fighting Blindness (FFB), has granted an award of US$125,000 to the Company via its translational research arm, the Foundation Fighting Blindness Clinical Research Institute (FFBCRI) formerly known as the National Neurovision Research Institute (NNRI).

23 Jul 2012

Study details development of first mouse model for 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 North America.

11 Jul 2012

Optogenetic Therapies for Vision workshop to be held on June 1

The Foundation Fighting Blindness and Massachusetts Eye and Ear will host the Optogenetic Therapies for Vision workshop on Friday, June 1, from 8 a.m.-6 p.m., in Boston.

24 May 2012

Two scientists receive The Brain Prize 2012 for pioneering work on hearing and deafness

The Grete Lundbeck European Brain Research Foundation announced today that The Brain Prize 2012 is jointly awarded to Christine Petit and Karen Steel.

12 Mar 2012

Mayo Clinic, Oxford BioMedica collaborate to develop gene therapy for glaucoma

Oxford BioMedica plc, the leading gene-based biopharmaceutical company, today announces that it has entered into a research and development collaboration with Mayo Clinic, Rochester (USA) to develop a novel gene therapy for the treatment of chronic glaucoma.

31 Oct 2011

FDA approves Oxford BioMedica's UshStat IND to treat Usher syndrome type 1B

Oxford BioMedica plc, the leading gene-based biopharmaceutical company, today announces that the US Food and Drug Administration has approved its Investigational New Drug application for the Phase I/IIa clinical development of UshStat, a novel gene-based treatment for Usher syndrome type 1B.

18 Oct 2011

AGTC receives FFB grant to evaluate gene therapy treatment for X-linked Retinoschisis

Applied Genetic Technologies Corporation, a privately-held, clinical stage biotechnology company developing novel systems to deliver human therapeutics, announces that it has received a grant of $1.5 million from the Foundation Fighting Blindness to fund a pre-clinical trial evaluating the safety and efficacy of a gene therapy treatment for X-linked Retinoschisis (XLRS), a genetic eye disease affecting over 35,000 patients in the US and Europe.

22 Sep 2011

New role for harmonin protein in Usher syndrome

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 help explain why this mutation causes the most severe form of the condition.

16 Aug 2011