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Usher syndrome (USH) is a rare, genetically inherited disease and its main symptoms are sensorineural hearing loss and retinitis pigmentosa (RP) causing a slow progressive loss of sight. Some people with Usher syndrome also experience vestibular (balance) issues.
It is the leading genetic cause for combined hearing and sight loss, also known as dual-sensory loss, with an estimated 400,000 people worldwide having Usher syndrome. At home, it is believed between 260-350 people are living on the island of Ireland with this condition.
This website has lots of useful information about Usher syndrome, its different types and the characteristic of each type, updates on ongoing research, where to find help from the Usher syndrome community, and much more. Just click the button below to begin learning more about Usher syndrome.
We are here to listen, offer support, and provide you with valuable information. You can get in touch with us through a variety of methods, including phone calls, text messages, emails, or by completing an online contact form. For more detailed contact information, please click here.
USHER SYNDROME IRELAND FUNDS ITS FIRST USH RESEARCH
In the pilot study titled, “Investigating the exosome content as a novel marker for Usher syndrome 1b”, Dr. Irene Vázquez Domínguez at RadboudUMC, Netherlands, will investigate if tears can be used as a source of information to help improve the current knowledge of the disease and also, if they can be used to better predict the development of Usher Syndrome type 1b. This is a one year study being co-financed by Usher Syndrome Ireland in a collaboration with lead financer, Stichting Ushersyndroom.
USHER SYNDROME IRELAND APPEARS ON IRELAND AM
Our board member Deirdre, and Prof Keegan, recently appeared on national TV on Ireland:AM, to raise awareness of Usher syndrome and Usher Syndrome Ireland. You can watch back by searching episode number:128 on Virgin Media Player.
Playback no longer available on Virgin Media Player - video to be uploaded to our YouTube channel soon.
USHER SYNDROME IRELAND HOSTS ITS FIRST-EVER VIRTUAL EVENT - CONNECTING THE COMMUNITY
Recently, Usher Syndrome Ireland successfully hosted its first-ever event, Connecting the Community, bringing together for the very first time in Ireland the Usher syndrome community.
USHER SYNDROME ON THE ISLAND OF IRELAND: A GENOTYPE-PHENOTYPE REVIEW
The first comprehensive publication of clinical and genetic data on Usher syndrome on the island of Ireland has been published with implications for clinical care, quality of life, and cost-effective use of novel treatments for those living with the condition as they become available in Ireland and globally. The publication also details that the estimated economic impact of USH is €10.2 million per year in Ireland.
It was noted that the most common genotypes in this group were found to be MYO7A and USH2A, together comprising 80.7% of cases in Ireland, consistent with international findings. The clinical majority were USH2 (73.8%) and USH1 (24.1%) with infrequent USH3 (1.4%) and USH4 (0.7%) cases.
NEW RESEARCH AIMS TO EXPAND A METHOD OF GENE THERAPY WITH HOPES IT WILL RESTORE VISION LOSS IN USH2A
A University of Houston researcher is expanding a method of gene therapy with the hopes it will restore vision loss in Usher Syndrome Type 2A (USH2A), a rare genetic disease.
The National Eye Institute has awarded Muna Naash, John S. Dunn Endowed Professor of biomedical engineering, $1.6 million to support her work.
NACUITY PHARMACEUTICALS ACHIEVES TARGET ENROLLMENT FOR PHASE 1/2 CLINICAL TRIAL OF NPI-001 FOR THE TREATMENT OF RETINITIS PIGMENTOSA ASSOCIATED WITH USHER SYNDROME
Nacuity has announced it has achieved its target enrolment of 48 patients diagnosed with RP associated with USH for its Phase 1/2 clinical trial of Nacuity’s proprietary NPI-001 tablets, the SLO-RP Study.
This therapy focuses on the treatment of ocular oxidative stress in the retina which they believe may potentially slow down the degeneration of the photoreceptors cells as experienced by patients with RP associated with Usher syndrome. Nacuity expects to share the results from an interim analysis including efficacy data by year end 2023.
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We are an organisation that aims to increase awareness and understanding of Usher syndrome, be a trusted source of information, along with raising funds for scientific research to find a cure or treatment for Usher syndrome. You can learn more about us and read our mission statement here.
Our organisation is run entirely by passionate volunteers meaning there's no paid staff and no team member is paid for their time or work. Therefore, we truly appreciate the dedication each one gives to help further the cause of Usher Syndrome Ireland. Read more about each of our amazing team members and why they became involved.
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