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.

Researchers take key step toward developing a gene therapy for Usher syndrome type 1F

Usher Syndrome type 1F is a rare but severe genetic disease that causes deafness, lack of balance, and progressive blindness.

26 Apr 2023

Penn State Health expert offers insight on childhood hearing loss

Two to three out of every 1,000 children are born with permanent childhood hearing loss. And finding out who they are can be tricky, since the patients haven't yet developed the ability to tell you what's wrong.

22 Mar 2023

OHSU researchers confirm first-ever nonhuman primate model of Usher syndrome

Those with Usher Syndrome -- the leading hereditary cause for simultaneous deafness and blindness, for which there is no treatment -- may have a new reason for hope now that researchers have confirmed the first-ever nonhuman primate model of their disease.

13 Feb 2023

First-of-its-kind gene therapy technique reverses severe hearing loss in mice

Hearing loss has been linked to mutations in at least 100 different genes, but up to 16 percent of genetic hearing loss can be traced to just one gene, STRC, the second most common genetic cause.

15 Dec 2021

Retinoid therapy improves vision in mice with Usher syndrome

Using data generated from patients and mice with genetic mutation for the disorder Usher syndrome, researchers from the University of Maryland School of Medicine, the National Institutes of Health's National Eye Institute, and National Institute on Deafness and Other Communication Disorders, documented the natural history of vision impairment in patients and identified the cell mechanism behind progressive vision loss.

9 Nov 2021

Researchers gain new insights into the pathology of Usher syndrome

Human Usher syndrome (USH) is the most common form of hereditary deaf-blindness. Sufferers can be deaf from birth, suffer from balance disorders, and eventually lose their eyesight as the disease progresses.

12 Jul 2021

UVA researchers discover essential key to hearing sensitivity in the inner ear

New research from the University of Virginia School of Medicine is shedding light on the biological architecture that lets us hear – and on a genetic disorder that causes both deafness and blindness.

26 May 2020

Research suggests an avenue to treat, prevent genetic disorders in the womb

New research led by hearing scientists at Oregon Health & Science University suggests an avenue to treat and prevent intractable genetic disorders before birth.

6 Apr 2020

Researchers identify novel cellular entry factor for AAV vector types

Researchers led by a team at Massachusetts Eye and Ear have identified a novel cellular entry factor for adeno-associated virus vector (AAV) types--the most commonly used viral vectors for in vivo gene therapy. AAVs are vectors-or vehicles--that are created from a virus that is made harmless by molecular engineering, and have shown promise transporting genetic therapy treatments to affected tissues.

23 Jan 2020

LSU Health New Orleans awarded $1.74 million to advance research on Usher syndrome

Jennifer J. Lentz, PhD, Associate Professor at LSU Health New Orleans Neuroscience Center of Excellence and Departments of Otorhinolaryngology, Genetics and Ophthalmology, in collaboration with Robert K. Koenekoop MD, PhD and Professor of Pediatric Surgery, Human Genetics and Ophthalmology at McGill University in Montreal, Quebec, Canada, has been awarded a $1.74 million USD grant to advance research on Usher syndrome.

22 Oct 2019

Malaria drug may help those with hereditary hearing loss finds study

Researchers have found that anti-malarial drug artemisinin could help patients with genetic or hereditary hearing loss. The study results were published in the latest issue of the journal Proceedings of the National Academy of Sciences (PNAS). The study was titled, “Unconventional secretory pathway activation restores hair cell mechanotransduction in an USH3A model.”

12 Jun 2019

Scientists discover new genetic mutations causing inherited deaf-blindness

A team of scientists from Sechenov First Moscow State Medical University together with their colleagues from leading scientific centers of Moscow and India described a number of genetic mutations causing Usher syndrome (inherited deaf-blindness).

23 Jan 2019

Bielefeld scientists discover cause of initially unclear symptoms

The sequencing of the human genome has made it possible: nowadays scientists can discover potential disorders for which there are no known patients.

5 Jan 2018

Research advance may lead to preservation of hearing in people with Usher syndrome type III

A research advance co-led by Case Western Reserve University School of Medicine's Kumar Alagramam, PhD, may stop the progression of hearing loss and lead to significant preservation of hearing in people with Usher syndrome type III, a form of hereditary hearing loss linked to defects in the sensory "hair" cells in the inner ear. USH3 is caused by a mutation in the clarin-1 gene.

26 Oct 2017

Penn study sheds light on genetic cause of early hearing loss

From the moment a baby is born, they are put through a battery of screenings to test for all sorts of characteristics, which includes the sense of hearing.

26 Oct 2017

Researchers use gene therapy to restore hearing and balance in mouse model of Usher syndrome

Hearing loss, sometimes associated with other disorders such as balance defects, is the most common sensory deficit, affecting more than 280 million people worldwide, according to WHO. In France, one child in 700 is born with severe or profound hearing loss, and one in every 1,000 will lose their sense of hearing before adulthood.

22 Sep 2017

Researchers use modified AAV as ‘Trojan Horse’ for delivering genes to restore congenital deafness

There are more than 300 genetic defects that have been found to prevent the hair cells in the human inner ear, the sensory cells of the ear as it were, from working properly.

6 Apr 2017

Inner ear gene therapy holds promise for treating patients with hearing loss and dizziness

In a first-of-its-kind study published in the March 1, 2017 edition of Molecular Therapy, researchers from the National Institute on Deafness and Other Communication Disorders and Johns Hopkins University School of Medicine showed that gene therapy was able to restore balance and hearing in genetically modified mice that mimic Usher Syndrome, a genetic condition in humans characterized by partial or total hearing loss, dizziness, and vision loss that worsens over time.

23 Mar 2017

Researcher paints pitiless picture of life for people with acquired deaf-blindness

It is like being in a dirty glass jar, unable to reach out and with acquaintances passing by without saying hello. New research from the Sahlgrenska Academy paints a merciless picture of life with acquired deaf-blindness.

6 Feb 2017

New glasses may help expand sight of person with limited peripheral vision

Vision scientists may have discovered how to reduce pedestrian collisions in crowded and chaotic open space environments like bus terminals, shopping malls and city plazas involving individuals with partial blindness.

16 Dec 2016