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Usher Syndrome Blog and News

The latest USH blog posts and various news items impacting the Usher syndrome community. Join our mailing list.

"As an organization formed on the pillars of community and collaboration, the Usher Syndrome Coalition is thrilled to partner with CUREUsher, an alliance we're confident will grow and strengthen our global USH family. The launch of our two-fold collaborative awareness initiative will harness the energies of the USH community and the clinicians who serve them so that one day, everyone with this diagnosis can be supported by a doctor who is knowledgeable about Usher syndrome." - Krista Vasi, Executive Director

You're invited to join the Usher Syndrome Coalition in recognition of the 7th annual global Usher Syndrome Awareness Day. This special day belongs to our community and falls on Saturday, September 18th this year. 

Becca Meyers is the only Paralympic swimmer on Team USA who is both deaf and blind. This dual sensory loss has far-reaching effects on an individual’s quality of life and engagement in society. We invite the USOPC to join together with the Usher Syndrome Coalition and other organizations supporting the deafblind community to address and resolve the underlying issues resulting in the denial of Ms. Meyers’s request for essential accommodation.

“Heartbroken” Becca Meyers, a deafblind Paralympic athlete who has Usher syndrome, was told to navigate Tokyo alone. Instead, she takes a powerful stand for future generations.

Nanoscope Therapeutics Inc. announced that in their Phase 1/2a clinical study, a year following a single injection of Multi-Characteristic Opsin (MCO) into the eye, there was vision improvement in all patients with retinitis pigmentosa (RP). The MCO gene used in the study is delivered into the retina using AAV2 vectors. 3 patients received low dosage injections and 8 received high dosage. All patients in this study had objective and subjective improvements in functional vision. There was also improvement seen in mobility tests. Most opsins have a limited scope of clinical benefit because they have a narrow band of activation. MCO is sensitive to broadband light and can react to ambient lighting so there is no need for an external light device.

What this means for Usher syndrome: This new therapy seems to be able to restore some vision in patients with RP regardless of the type of mutation that causes it. Because vision loss in Usher syndrome is a type of RP, this new therapy could be beneficial to Usher syndrome patients.

Usher syndrome (USH) is the most common form of genetic deaf-blindness. Thus far there are no treatments for vision loss. Researchers were able to create a pig model for USH1C by introducing a human mutation into the USH1C gene in pigs. This successfully created an animal model with the hearing defect, vestibular dysfunction, and visual impairment found in USH. The primary cell isolated from these pig models and USH1C patients show elongated primary cilia compared to primary cells with no USH mutations. This finding confirms USH as a genetic disorder that affects cilia. The research also proves that there can be therapeutic benefits in gene supplementation and gene repair therapies.

What this means for Usher syndrome: Researchers have now confirmed that USH is a genetic disorder affecting cilia. Knowing this enables possible therapies like gene supplementation and gene repair.

Retinitis pigmentosa (RP) is a rare genetic disease that causes loss of photoreceptors, which are the light sensitive cells in the retina. This disease can lead to blindness and affects more than 2 million people worldwide. In a groundbreaking clinical trial led by Paris-based GenSight Biologics, a man who was blind for 40 years successfully regained some visual function with a technique called optogenetics. Optogenetics uses light to control neuron activity. In this study, a light-sensing protein called ChrimsonR was injected into the eye and delivered to the patient’s retinal cells. After a four-month period to allow his body to make ChrimsonR protein, the patient was fitted with special goggles that detect and shift incoming light into a specific color range. The patient was able to see high-contrast images and objects, and his brain activity was the same as someone with normal sight.

What this means for Usher syndrome:
More patients will need to be enrolled and evaluated, but if this study proves to be successful, RP patients who are blind may be able to regain some sight, increasing their quality of life. Because vision loss in Usher syndrome is a type of RP, this therapy may also be beneficial for Usher syndrome patients.

An overview of the USH2021 Connections Conference agenda, the annual global gathering of the Usher syndrome community.

Individuals that have permanent damage to their photoreceptors are unable to repair or regenerate new photoreceptors. Researchers and engineers may have a possible solution for these individuals living with vision loss. They have worked to make new photoreceptors and a micro-molded scaffolding photoreceptor “patch.”

Magdalene Seiler, Ph.D., UCI associate professor has been awarded a five-year grant of $3,823,950 from the National Institutes of Health to do a preclinical study using rodent models. This study looks at an innovative co-graft method to permanently repair damaged retinas.

The Usher Syndrome Coalition's 2021 virtual USH Connections Conference will be more accessible than ever. Now offering Spanish spoken language interpreting for all sessions, plus on-screen captioning and American Sign Language (ASL) interpretation.
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Estamos felices de anunciar que la Conferencia Virtual Conexiones USH 2021 organizada por el Usher Syndrome Coalition va a ser más accesible que nunca.

Sumado a los subtítulos en pantalla e interpretación de Lenguaje de Señas Americano (ASL), vamos a ofrecer traducción hablada en español para todas las sesiones. 

During our USH2021 program, those living with Usher syndrome will take center stage as the experts. There will be something for everyone in the Usher syndrome community. Join us!

Check out some of the special programming made possible by our USH Partners. A detailed agenda will be available in the coming weeks.

Researchers inject patients' retina with own platelet rich plasma as possible treatment option.

ProQR has published positive results from its Phase 1/2 Stellar trial of QR-421a, an investigational RNA therapy for the treatment of Usher syndrome and retinitis pigmentosa (RP) due to mutation(s) in exon 13 of the USH2A gene.

FDA grants special status to a new cell therapy that chemically converts cells into photoreceptor-like cells with partial restoration of pupil reflex and visual function.

Researchers at Ecole Polytechnique Federale de Lausanne have developed a retinal implant with electrodes for individuals who become blind due to photoreceptor cell loss. The implant is paired with smart glasses that together provides artificial vision.

Second Sight Medical Products has recently announced that the FDA has approved of their Argus 2s Retinal Prosthesis System. This is a visual aid intended to assist individuals with retinitis pigmentosa (RP).

Photoreceptor precursor cells that were generated from stem cells were able to be successfully transplanted into the retina and demonstrate basic visual function.

A team of researchers at Tel Aviv University are studying a virus-based gene therapy approach to treat deafness by replacing the non-functioning gene with a functional copy.

Researchers in China have identified a new USH2A gene mutation in an individual with Usher syndrome type 2. Mutations are genetic changes that affect the proper function of the gene and/or the protein it encodes. Identifying and understanding a genetic mutation is important because it opens up the possibility of gene therapy in the future. Here, the researchers used a technique called targeted exome sequencing (TES), where they analyzed thousands of genes at one time to look for changes or new information. In this case, they found that this new mutation blocks important proteins from being made. This new discovery not only provides more insights into the causes of Usher Syndrome Type 2A, but also demonstrates advantages that TES can bring to Usher syndrome researchers.

What this means for Usher syndrome:
With the discovery of this new mutation, researchers are continuing to learn more about Usher syndrome and the causes behind it. Over time, this may lead to new gene therapies, treatments, or possibly a cure one day.

Case study and one year follow up on five patients with end-stage RP that received retinal implants.

Lentivirally modified mesenchymal stem cells from bone marrow shows promise in preserving retinal function and preventing further retinal degradation.

A type of laser light therapy called photobiomodulation shows promising results in the ability to preserve retinal performance, structure and function.

Researchers have found that using liposomes triggered by light to deliver CRISPR gene therapy, rather than viruses, is a safer and more targeted method.

Vedere Bio, Inc., a company focused on photoreceptor-protein-based optogenetic therapies (use of light to modulate neurons that have been genetically modified) to restore vision has been acquired by Novartis.

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