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 with an estimated 400,000 people worldwide having Usher syndrome with approx 260-350 people living on the island of Ireland with this condition.
The countdown is on! Registration is now closed.
Connecting the USH Community, an inaugural event bringing the USH community together to partake in a range of engaging activities, and gain insights from health experts.
**REGISTRATION NOW CLOSED**
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.
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.
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 main financer, Stichting Ushersyndroom. More information can be found here.
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.
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.
Nacuity has begun its Phase 1/2 clinical trial of Nacuity’s proprietary NPI-001 tablets, the SLO-RP Study, and are now enrolling patients with RP associated with Usher syndrome. 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 report interim safety results from this study during the third quarter of 2022 and first efficacy results second quarter 2023. More information can be found here.
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