Usher Syndrome Blog and News

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

Parenting, in general, is filled with challenges. Being a parent with Usher syndrome can add another layer of complexity. Here, USH moms share their advice for parenting with Usher. 

We can't share podcasts with the Usher syndrome community until there are transcripts available. Become a leader in accessibility and inclusivity in the podcast industry.

Tom, a member of our Usher community shares some tips that he has found helpful as an older adult with Usher syndrome type 2a. Please note that these tips may not be applicable for everyone as this is written from the experience of one person.

Announcing our partnership with ProQR to support clinical trial enrollment for a potential therapy for USH2A mediated retinitis pigmentosa

Join us July 8-9. In order to keep everyone connected in 2022, we’re planning a hybrid format for this event. Meet your USH Family in person in Austin, Texas, or connect online.

University of Pittsburgh School of Medicine is working on a technology to help other researchers determine what the best gene delivery system could be for their genetic treatment research.

"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

Eye drops of PNU-282987, an α7 nicotinic acetylcholine receptor agonist, were shown to support regeneration of retinal neurons in mice.

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. 

Often, individuals who present with deafness and vision loss are assumed to have Usher syndrome (USH). This assumption is not correct.

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.

Researchers have been exploring stem cell therapies to treat vision loss, including vision loss caused by retinitis pigmentosa. Preclinical and clinical studies are showing that stem cell therapies could be new options.

“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.

A Phase 2 clinical trial was used to see if injecting human retinal progenitor cells (derived from stem cells) can improve vision and visual fields in people with retinitis pigmentosa (RP).

Professor Uwe Wolfrum of the Institute of Molecular Physiology at Johannes Gutenberg University Mainz and Professor Reinhard Lührmann at the Max Planck Institute for Biophysical Chemistry in Göttingen have identified a new pathway that leads to Usher syndrome (USH).

A recent study has estimated the annual cost of inherited retinal diseases (IRDs) in the United States and Canada from a societal perspective, including the cost to the health care system, human productivity costs, lost wellbeing and other societal economic costs.

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.

The company, Vedere Bio II, is working on optogenetic gene therapies based largely on the work of University of California, Berkeley, neuroscientists Ehud Isacoff and John G. Flannery to restore vision.

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.