Grounded in Science

A balance of research news and well-being for the Usher syndrome community.

We are so excited to gather with our global Usher syndrome community next week! Here are some final details as the countdown to the USH2026 Connections Conference begins.

Event Details:

  • July 17 - 19, 2026
  • Bloomington, Minnesota, at the Radisson Blu Mall of America.
  • Virtual access is available for Saturday

This is the largest gathering of the global Usher syndrome community. Families, adults living with Usher syndrome, and the researchers and clinicians who support them all come together.

Here's what to expect:

  • Friday afternoon: an informal meet and greet from 4-6 pm
  • Saturday: a full day of presentations on research, assistive technology, and social and emotional support, followed by an evening social and dinner
  • Sunday morning: small-group breakout sessions

Every session includes ASL interpreters and live captions, called CART. Real-time translation is also available in more than 50 languages.

This year's sessions cover a wide range of topics, including:

  • Gene-specific research breakthroughs in USH1C, USH1B, USH1F, and USH2A
  • Gene-agnostic therapies, treatments that could help across multiple Usher syndrome types
  • Patient-Focused Drug Development Listening Sessions, known as PFDD
  • Mental health tools
  • Advocacy training
  • Hands-on adaptive equipment demonstrations

Can't join us in person? A virtual pass gives you immediate access to Saturday’s live-streamed General Session presentations. Recordings from Saturday will eventually be released to the public, but registered attendees get early access. Secure your virtual pass now to skip the wait.

A few things to do now:

  • Register as an adult or virtual attendee if you haven't already. (Please note: The deadline has passed for personalized accessibility requests, and childcare registration is closed.)
    • General sessions will include ASL interpreters and live English captions (CART), displayed on the big screen and available through live-streaming to your device. Real-time AI translation and captioning will also be available in 50+ languages, provided by Wordly.
  • Download the Whova event app. It has the full schedule and lets you connect with other attendees. Virtual attendees can also watch Saturday's sessions live through the app.
  • Email the Evolve Access team right away if you have any accessibility questions: access@usher-syndrome.org

RESEARCH SPOTLIGHT: Join the USH Trust to Accelerate Research

Accelerating Research, Building the Usher Community, One Person at a Time: Why is the USH Trust Critical to Research? By Nancy O’Donnell

(Note: This piece has been shortened for the newsletter. The full article, in Nancy's own words, is linked below.)

The Usher Syndrome Coalition's "USH Trust" is the largest international contact database of individuals with Usher syndrome. Those who join the USH Trust are the first to learn about the latest research opportunities. But it is also our most powerful tool to accelerate research. Here's how:

When individuals or families are told about the Usher diagnosis, the first question they have is, "What treatments are available to stop the vision loss?" Currently, there are no treatments, but we are at a pivotal moment in the history of Usher syndrome. For the first time, there are several clinical trials taking place. This is incredible! We know it takes millions of dollars to get through the many phases of testing gene therapy, medicines and devices. And yet, when the Usher Syndrome Coalition was established, we were asked to play another, crucial role in supporting and accelerating research - and that is to find and build the Usher community worldwide. 

Finding enough participants for a clinical trial is one of the biggest challenges in medical research, especially for rare diseases like Usher syndrome, where low numbers of people are affected. If a clinical trial cannot find enough participants, the trial will stop. That's correct. We're not being dramatic. We've seen this actually happen in other rare disease communities. That's why the USH Trust is so important. When thousands of individuals living with a syndrome or disease are willing to share their information and possibly participate in research, they help to accelerate (quicken) the development of new treatments. (Remember - your personal information stays with us, but your Usher type and other "demographic" information is combined with others to get The Big Picture.) That's incredibly powerful.

For nearly two decades, the Usher Syndrome Coalition has worked tirelessly to build the Usher community worldwide. No other organization in the world is exclusively dedicated to this goal like we are. We have met you through email, phone, videophones, text, social media, forums, Zoom, and in person. Every year, we meet, chat with, and support hundreds of individuals with Usher syndrome and their families around the world. We bring the community together, in person, at our conferences every other year. We get to know you through our online forums. We share information on social media. We send out monthly newsletters. We build local Usher syndrome communities through our USH Ambassadors. All of this is pretty amazing for a small nonprofit, right? But this is a testament to YOU, the Usher community, and your desire to learn, connect, find treatments, and live your best lives. We want that for you, too. And so, we encourage every person with Usher to join our simple, free, and confidential USH Trust - our most powerful tool to accomplish your goals.

When a researcher is planning a clinical trial, they can partner with the Coalition to find out if there are enough potential participants, to recruit participants, and to decide where clinical trial sites should be set up. The Coalition can pull data (protecting your name and identifying information) to help them make those decisions. 

Here's an example of how the Usher Syndrome Coalition and researchers work together. Sepul Bio, which is conducting the LUNA clinical trial, partnered with the Coalition to do outreach for that trial. We used the USH Trust to contact hundreds of individuals and families with information about the trial. Our outreach led to over 95 direct referrals to clinical sites. Here's what Andrew Bolan, Patient Advocacy Director for Sepul Bio, said about the USH Trust: 

“The USH Trust played a crucial role in helping the research team reach a highly relevant and engaged USH2A exon 13 community, significantly enhancing both the effectiveness and educated nature of the recruitment project.”

There are at least 400,000 people with Usher syndrome, worldwide. Most of those people have no idea that they have Usher syndrome, or have been told of their diagnosis and have never met another person with Usher. No one with Usher should live in isolation.

Every person should have the chance to meet and join their community, if they so desire, whether they are interested in research or not. Sign up now at https://www.usher-syndrome.org/sign-up/ or email us to see if you already joined.

[Read the full article] 

Check out our Current USH Research page specific to USH subtype as well as other gene-independent therapeutic approaches.

 

Join the USH Trust to stay updated on clinical trials and opportunities to participate. Only ten questions need to be answered to register.

IN CASE YOU MISSED IT: Science News Feature

Repurposing a blood pressure drug may prevent vision loss in inherited blinding diseases

April 15, 2025: A study by the National Institutes of Health (NIH) found that reserpine, an old blood pressure medication, might help protect vision in people with inherited eye diseases like retinitis pigmentosa (RP). These conditions slowly damage the eye’s light-detecting cells (photoreceptors), and can lead to blindness.

In rat studies, reserpine preserved photoreceptor cells, especially in females, though the reason for this difference isn’t clear. Importantly, reserpine seemed to work no matter what genetic mutation caused the disease. That makes it an exciting option because it could help many different people, not just those with one specific gene change.

Reserpine is no longer widely used to treat high blood pressure because of its side effects. Scientists plan to test tiny doses placed directly into the eye, which could avoid those problems. They are also working on stronger, improved versions of the drug. The idea is that reserpine could slow vision loss, giving patients more time until newer treatments, like gene therapies, are ready.

What this means for the Usher syndrome community: For people with Usher syndrome, this research offers new hope. Because reserpine works across many genetic causes, it might help no matter which Usher mutation a person has. Using an existing drug could also speed up the process of getting treatments to patients, instead of waiting many years for brand-new therapies to be developed. 

Link to article

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USH Tip

Travel Tips for Accessibility & Autonomy

Travel can be hectic, but your accessibility and autonomy should always come first. Whether you are flying or driving to Bloomington, Minnesota, use these 6 key tips to keep your journey smooth and stress-free:

  1. Plan Ahead: Confirm all accessibility accommodations with your airline or hotel early.
  2. Wear Your Sunflower Lanyard: Discreetly signal to airport staff that you may need extra time or assistance. Learn more via the Hidden Disabilities Sunflower network, or pick one up for free at airport customer service desks.
  3. Utilize TSA Cares: Make security checkpoints a breeze by connecting with the TSA Cares program at least 72 hours before your flight.
  4. Pack Essentials Close: Keep your white cane, chargers, medication, pass guides, and assistive tech in your carry-on at all times.
  5. Protect Your Autonomy: This is your journey. Set clear boundaries and accept assistance only when you want it.
  6. Advocate Confidently: Speak up clearly for what you need. Your voice ensures a smoother trip today and builds better awareness for future deafblind travelers.

USHER SYNDROME DATA COLLECTION PROGRAM

As the world continues to get to know the individuals living with Usher syndrome, it's a great time to join the Usher Syndrome Data Collection Program - the USH DCP  - so researchers can better understand this diagnosis.

If you'd like additional support enrolling, please reach out to Yael Saperstein, our Community Enrollment Coordinator for the USH DCP. Yael is an expert on the enrollment process, accessibility, and guiding new participants every step of the way. Contact Yael here: y.saperstein@usher-syndrome.org.