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Case Western Reserve research advance may prevent a form of hereditary hearing loss
(Case Western Reserve University) 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. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - October 26, 2017 Category: International Medicine & Public Health Source Type: news

What is Usher Syndrome?
Discussion Over 7000 diseases are considered rare disorders according to the National Organization for Rare Disorders® (NORD, rarediseases.org). NORD is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. They have information on about 1200 rare diseases on their website (https://rarediseases.org/for-patients-and-families/information-resources/rare-disease-information/). Hearing loss (HL) is not rare and is a common problem across the ages. It affects 360 million people worldwide which is about 5% of the population. There are many causes of hearing loss an...
Source: PediatricEducation.org - October 23, 2017 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

Usher syndrome: Gene therapy restores hearing and balance
(Institut Pasteur) Scientists from the Institut Pasteur, Inserm, the CNRS, Coll è ge de France, University Pierre et Marie Curie, and University Clermont Auvergne, have recently restored hearing and balance in a mouse model of Usher syndrome type 1G characterized by profound congenital deafness and vestibular disorders caused by severe dysmorphogenesis of the mechanoelectrical transduction apparatus of the inner ear's sensory cells. These findings open up new possibilities for the development of gene therapy treatments for hereditary forms of deafness. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - September 22, 2017 Category: International Medicine & Public Health Source Type: news

Young disabled people 'suffering from loneliness'
Newsbeat hears from two people who suffer from Usher syndrome, which affects hearing and sight. (Source: BBC News | Health | UK Edition)
Source: BBC News | Health | UK Edition - July 11, 2017 Category: Consumer Health News Source Type: news

A quarter of us 'avoid conversations with disabled people'
Newsbeat hears from two people who suffer from Usher syndrome, which affects hearing and sight. (Source: BBC News | Health | UK Edition)
Source: BBC News | Health | UK Edition - July 11, 2017 Category: Consumer Health News Source Type: news

Novel gene therapy experiment offers hope for people with certain hearing loss and dizziness disorder
(Johns Hopkins Medicine) 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 (NIDCD) 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. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - March 23, 2017 Category: Global & Universal Source Type: news

Gene Therapy Restores Hearing in Mouse Model Gene Therapy Restores Hearing in Mouse Model
Researchers have used a newly developed gene transfer vector to restore a high level of hearing in a mouse model of Usher syndrome, the most common genetic form of deaf-blindness. They describe their work in two recently published papers.Reuters Health Information (Source: Medscape Medical News Headlines)
Source: Medscape Medical News Headlines - February 14, 2017 Category: Consumer Health News Tags: Pathology & Lab Medicine News Source Type: news

First small molecule targeted therapy to mitigate hearing loss in usher syndrome type 3
The first small molecule targeted therapy for progressive hearing loss has been developed in a mouse model of USH3, an USH classified by progressive loss of hearing and vision starting in the first few decades of life along with variable balance disorder. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - April 26, 2016 Category: Science Source Type: news

Mother suffering from toxic shock syndrome caused by a TAMPON wakes from coma
Deborah Usher, 27, from Porthmadog, Wales, suffered from toxic shock syndrome - a rare bacterial infection caused by a tampon. When she awoke from a coma, she had severe memory loss. (Source: the Mail online | Health)
Source: the Mail online | Health - December 18, 2015 Category: Consumer Health News Source Type: news

Sisters born profoundly deaf with gradually deteriorating vision have Usher syndrome
India and Samira Cox have Usher Syndrome, a genetic disorder that saw them born profoundly deaf with deteriorating vision. But despite the diagnosis, the Sydney sisters remain positive for the future (Source: the Mail online | Health)
Source: the Mail online | Health - November 29, 2015 Category: Consumer Health News Source Type: news

Usher Syndrome: Types, Causes & Treatment Options
Usher syndrome is named for the British eye surgeon who first described it in the year 1914. It is a rare and inherited disorder that causes gradual vision loss and deafness. Usher syndrome may also affect a person's balance. Scientists have identified three types of Usher syndrome; 1, 2 and 3. Babies with Usher syndrome are born hard-of-hearing or deaf. Vision loss associated with the syndrome develops during childhood or adolescence. (Source: Disabled World)
Source: Disabled World - September 18, 2015 Category: Disability Tags: Disability Information Source Type: news

Global Usher Syndrome Awareness Day
First global Usher Syndrome awareness day - 19th September - Molly Watt, a young woman affected by the rare condition Usher Syndrome, talks through some of the issues she faces, to promote first global Awareness Day. (Source: Disabled World)
Source: Disabled World - September 16, 2015 Category: Disability Tags: Awareness - Disability Source Type: news

Deaf woman Joanne Milne hears her favourite songs at Glastonbury for first time
Born with the rare condition Usher Syndrome, Joanne Milne, from Gateshead, had been deaf since birth. Last year she became able to hear for the first time, thanks to cochlear implants. (Source: the Mail online | Health)
Source: the Mail online | Health - July 1, 2015 Category: Consumer Health News Source Type: news

Jo Milne who heard for the first time in video is now losing her sight
Jo Milne has Usher syndrome which is a genetic condition that caused her to be born deaf. The syndrome is also slowly taking her sight and one day she will have to live in total darkness. (Source: the Mail online | Health)
Source: the Mail online | Health - May 28, 2015 Category: Consumer Health News Source Type: news

How Jo Milne born deaf took the gamble of her life and escaped a world of silence
Jo Milne, 39, from Gateshead, suffers from Usher syndrome which affects hearing and sight. Last year she had a risky operation to have cochlear implants to have a chance at hearing for the first time. (Source: the Mail online | Health)
Source: the Mail online | Health - February 19, 2015 Category: Consumer Health News Source Type: news

Retinitis Pigmentosa: Inherited Eye Diseases
'Retinitis Pigmentosa (RP),' refers to a group of inherited diseases that cause retinal degeneration in a person's eyes. The cell-rich retina lines the back inside wall of a person's eye. It is responsible for capturing images from the person's visual field. People with RP experience a gradual decline in their vision because, 'photoreceptor,' cells or, 'rods and cones,' die. Forms of RP and related diseases include Leber's congenital amaurosis, Usher syndrome, Bardet-Biedl syndrome, rod-cone disease, and Refsum disease. (Source: Disabled World)
Source: Disabled World - July 16, 2014 Category: Disability Tags: Vision Disability Source Type: news

Usher Syndrome
Title: Usher SyndromeCategory: Diseases and ConditionsCreated: 2/13/2001 1:04:00 PMLast Editorial Review: 4/7/2014 12:00:00 AM (Source: MedicineNet Hearing General)
Source: MedicineNet Hearing General - April 7, 2014 Category: Audiology Source Type: news

Watch as a 40-Year-Old Deaf Woman Hears for the First Time
(Source: MDDI)
Source: MDDI - March 28, 2014 Category: Medical Equipment Authors: Chris Wiltz Tags: cochlear implant joanne milne usher syndrome Implantable Devices Source Type: news

Deaf Joanne Milne HEARS for first time with cochlear implants in moving video
Joanne Milne from Gateshead was born with the rare condition Usher Syndrome, which left her deaf from birth. The 40-year-old also lost her vision to the condition in her 20s. (Source: the Mail online | Health)
Source: the Mail online | Health - March 28, 2014 Category: Consumer Health News Source Type: news

Discovery and Function of the Very Large G Protein-Coupled Receptor
The very large G protein-coupled receptor 1 (VLGR1), also known as MASS1 or GPR98, is most notable among the family of adhesion GPCR for its size. Encoded by an 18.9 kb open reading frame, the ~700 kDa primary translation product is by far the largest GPCR and, additionally, the largest cell surface protein known to date. The large ectodomain of the protein contains several repeated motifs, including some 35 calcium binding, Calx-β repeats and seven copies of an epitempin repeat thought to be associated with the development of epilepsy. The extreme carboxyl-terminus contains a consensus PDZ ligand sequence, suggesting...
Source: Springer protocols feed by Pharmacology/Toxicology - January 27, 2014 Category: Drugs & Pharmacology Source Type: news

European young investigators network for Usher syndrome awarded E-Rare collab project
(Johannes Gutenberg Universitaet Mainz) 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 (EUR-USH) 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. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - November 13, 2013 Category: Global & Universal Source Type: news

In Mouse Model Of Usher Syndrome, Researchers Develop Rx For Deafness, Impaired Balance
Jennifer Lentz, PhD, Assistant Professor of Otorhinolaryngology & Biocommunications and a member of the Neuroscience Center of Excellence at LSU Health Sciences Center New Orleans, is the lead author of a paper reporting that hearing and balance can be rescued by a new therapy in a mouse model of Usher syndrome (Usher) that contains the mutation responsible for type 1C Usher. The results provide the first evidence that congenital deafness can be effectively overcome by treatment early in development to correct gene expression... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - February 6, 2013 Category: Consumer Health News Tags: Hearing / Deafness Source Type: news

Tiny Genetic Patch Stops Deafness
Researchers used a small genetic patch to partially restore hearing and balance in deaf mice with Usher syndrome, according to a new report published in Nature Medicine. The animal study, which is still in its early stages, could eventually develop into new treatments for Usher syndrome, a congenital hearing disorder which usually goes hand-in-hand with blindness as well. When the scientists injected the profoundly deaf mice with the genetic patch, they developed into partially hearing mice with no balance problems... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - February 5, 2013 Category: Consumer Health News Tags: Hearing / Deafness Source Type: news

Researchers develop Rx for deafness, impaired balance in mouse model of Usher syndrome
(Louisiana State University Health Sciences Center) Jennifer Lentz, Ph.D., Assistant Professor of Otorhinolaryngology & Biocommunications and a member of the Neuroscience Center of Excellence at LSU Health Sciences Center New Orleans, is the lead author of a paper reporting that hearing and balance can be rescued by a new therapy in a mouse model of Usher syndrome (Usher) that contains the mutation responsible for type 1C Usher. The results provide the first evidence that congenital deafness can be effectively overcome by treatment early in development to correct gene expression. (Source: EurekAlert! - Social and Behavioral Science)
Source: EurekAlert! - Social and Behavioral Science - February 4, 2013 Category: Global & Universal Source Type: news