Usher Syndrome Blog and News

Rare Genes transforms a medical diagnosis into a movement, redefining what it means to be rare. Your Rare Genes connect you to a global network.

Scientists are working on new gene therapies for Usher syndrome, including Type 1B (USH1B). This condition is caused by changes (mutations) in the MYO7A gene. Here, we will dive into two companies that have active USH1B programs.

Cells have a protective outer layer called the cell membrane, which can make it hard for gene therapies to get inside. To fix this, scientists put gene therapies into a special carrier that keeps them safe, helps them travel to the right cells, and allows them to enter the cells to do their job.

Some inherited eye diseases, like Usher syndrome and retinitis pigmentosa, cause vision loss over time. Last week, we talked about how gene therapies can help photoreceptor cells make important proteins again. However, for these treatments to work, we need to get the gene therapy to the right place in the eye. How is this done?

Living with Usher syndrome presents daily challenges, but as Molly Watt shares in this patient perspective featured by MedJournal 360, it also fosters remarkable resilience.

Scientists are making tremendous progress using gene therapy to treat inherited eye diseases like Usher syndrome and retinitis pigmentosa. In this series, we will explore gene therapy—what it is, how it works, and how it is given to patients.

As government and NIH funding decisions unfold, we remain committed to advocating for continued progress in research efforts that are critical to our community.

Living with Usher syndrome presents daily challenges and requires constant adaptation as we navigate our unique journeys through deafblindness. However, this diagnosis should never define us or limit our potential.

Nacuity Pharmaceuticals, Inc. announced that its investigative therapy, NPI-001, for treating retinitis pigmentosa (RP), has received both Fast Track Designation and Orphan Drug Designation from the U.S. FDA.

As we welcome the new year, many people turn to resolutions. Let’s consider an alternative: setting intentions.

Registration is open for USH2025, the 5th International Symposium on Usher Syndrome! The Scientific Conference and Congrestival, hosted by the Dutch Usher Syndroom Foundation, will take place in Nijmegen, the Netherlands, on June 19, 20 and 21, 2025.

Learn about the Usher Syndrome Coalition’s partnership with Sepul Bio to support enrollment in the LUNA clinical trial, a Phase 2b study testing ultevursen, a potential RNA therapy for USH2A-mediated retinitis pigmentosa.

Sepul Bio launches the LUNA Phase 2b clinical study to test ultevursen, a potential mRNA therapy aimed to help people with Usher syndrome type 2a maintain their vision.

The holiday season is a time of joy and togetherness, but it can also bring stress and overwhelm. It’s easy to put yourself last in the hustle of shopping, planning, and attending events...

As we approach the season of giving thanks, it can be helpful to remember that gratitude and kindness are simple practices that can have a positive impact on how we feel.

Personal health literacy is defined as the degree to which individuals can find, understand, and use information and services to inform health-related decisions and actions for themselves and others.

In late 2024, AAVantgarde shared exciting announcements on the first participant dosage, Orphan Drug Designation, and early safety data in the Phase 1/2 LUCE-1 clinical trial for vision loss caused by Usher syndrome type 1B.

Exploring the challenges of living with Usher syndrome and the importance of disability equity in the workplace.

BlueRock Therapeutics LP has announced that the U.S. Food and Drug Administration (FDA) has cleared OpCT-001, its investigational product, an induced pluripotent stem cell (iPSC)- derived cell therapy, through an Investigational New Drug (IND) application.

Attending the Usher Syndrome Coalition's USH Connections Conference for the first time can evoke a wide range of emotions. It can be incredibly empowering to connect with others who truly understand your experience, who "get it." At the same time, it may raise questions about the future, such as, "What will my life be like?" or "What can I do now if there aren’t yet any available treatments?"

The FDA has granted Ocugen's potential gene therapy, OCU-400, expanded access for up to 75 people with confirmed retinitis pigmentosa (RP).

Founded in 1995, DeafLEAD provides extensive support to Deaf, Hard of Hearing, Late-Deafened, and DeafBlind individuals.

This story highlights a young Korean boy who uses his pseudonym Yeong-ho. Yeong-ho was diagnosed with USH2A at Seoul National University Hospital as a newborn.

This article highlights a new partnership between GenKOre and Revvity.

USH1F is caused by mutations in the protein Protocadherin-15 (PCDH15). Because PCDH15 is a very large protein, the genetic sequence that cells use to make PCDH15 protein is too long to fit into the viruses that are used to deliver gene therapy treatments.