Grounded in Science
A balance of research news and well-being for the Usher syndrome community.
2025 was a remarkable year of progress in the Usher syndrome research field. The scientific advances we highlighted this year are a direct reflection of the collective strength of our community and our shared determination to move discovery forward.
Your curiosity, commitment, and generosity make this newsletter possible. Because of you, we can translate complex breakthroughs into clear, accessible updates, elevate community voices, and highlight meaningful progress with accuracy and purpose.
Thank you for sustaining this work and for being part of a year defined by innovation, collaboration, and hope.
RESEARCH SPOTLIGHT: FOUNDATION FIGHTING BLINDNESS RUSH 2A STUDY
Foundation Fighting Blindness Provides Public Access to Data From its RUSH2A Natural History Study
The RUSH2A Natural History Study follows people who have changes in the USH2A gene that cause Usher syndrome type 2A or non-syndromic retinitis pigmentosa (RP). The study tracks these individuals for several years to see how their condition naturally progresses without treatment. By learning how the disease changes over time, scientists can design better clinical trials and develop more effective treatments.
So far, RUSH2A has gathered four years of data from more than 100 people. The Foundation Fighting Blindness is now sharing this information publicly, with all personal details removed. By making the data available to the public, researchers worldwide can use it to develop better studies and endpoints for future clinical trials.
The study will run for a total of nine years and uses tests like visual acuity, light sensitivity, and eye imaging to track how vision changes over time. All study sites follow the same procedures, helping keep the data consistent and reliable. The Foundation has invested over $3 million in RUSH2A, with support from partner companies. Researchers have already published many papers using the data, and even more findings are expected as the study continues.
What this means for the Usher syndrome community:
The RUSH2A study is especially valuable because it shows how vision naturally changes in people with USH2A-related conditions, including Usher syndrome type 2A. These insights will guide companies in their research as they work to develop new treatments.
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
October 9, 2024: Endpoints and Design for Clinical Trials in USH2A-Related Retinal Degeneration: Results and Recommendations From the RUSH2A Natural History Study
To design a good clinical trial, scientists need to understand how a disease changes over time and how to measure whether a treatment is working. In this study, researchers wanted to learn more about how USH2A affects people and which vision tests are best to track changes.
Researchers from 16 locations in Europe and North America worked together. They used simple, non-invasive tools to check the eye health and vision of 105 people with USH2A. After looking at all the results, they made suggestions for how to design future clinical trials to test new treatments for USH2A.
What this means for Usher syndrome: The information from this study will help researchers plan future clinical trials for USH2A treatments. It will also help doctors know what to measure to determine whether a treatment is working.
DISCLAIMER: The Usher Syndrome Coalition does not provide medical advice nor promote treatment methods. USH Science News is intended to help summarize more complex literature for the community to use at their own discretion.
For more science news, check out our Science News page, organized by treatment approach and type of Usher syndrome.
On Well-Being: Why It’s Okay to Feel Relief After a Diagnosis
by Samantha Murphy / Blindish in Miami
When you’re handed a diagnosis like Usher syndrome, the first emotions that surface are often sadness, grief, and fear of the unknown. It’s a moment that changes how you see your past, your future, and even yourself. But there’s something few people talk about—something quieter, yet equally real: relief.
When you lose your peripheral vision slowly, you don’t realize it’s happening. Your brain adjusts; it’s not like waking up one day and being blind. You don’t see well, but you don’t know that you don’t see well. Before my diagnosis, I spent years trying to make sense of things that didn’t quite add up: the bruises from bumping into furniture, the awkward moments of missing a handshake or misjudging distance, the constant feeling of being clumsy when deep down I knew I wasn’t. I just couldn’t see as well—and when you live that way long enough, it becomes your “normal.”
Dimly lit rooms were especially hard. I’d instinctively reach out to guide myself through corners or doorways, trying to avoid bumping into things. I’d knock over a glass here and there. I’d try to squeeze between people at a party and end up bumping someone, embarrassed and confused. I thought I was just “bad with spatial awareness,” never realizing my vision was quietly narrowing.
When I finally got my diagnosis, the sadness was there, yes—but so was understanding. Suddenly, the puzzle pieces of my life fit together. I wasn’t clumsy. I wasn’t inattentive. I was navigating the world with limited vision I didn’t know I had. And that realization brought an unexpected peace. There’s comfort in having language for what you’re experiencing. There’s relief in knowing it’s not your fault.
And then, there’s community. Finding others through organizations like the Usher Syndrome Coalition, who understand what it’s like to live with Usher syndrome, brings a sense of belonging that words can’t quite capture. Our community may be small, but it’s mighty—and full of shared hope.
We lift each other up, laugh about the daily mishaps, and hold on to the belief that progress and possibility are ahead. So yes, the diagnosis comes with grief. But it also comes with clarity, connection, and relief. Understanding yourself more fully is its own kind of healing—and it’s okay to feel heartbroken and relieved at the same time.
USH Tip
Looking for holiday gifts? Our Bonfire storefront features shirts and hoodies with different designs to choose from to rep the USH community! 100% of proceeds go toward supporting our goals to connect the global USH community, provide support and resources, and advocate for a more equitable and accessible world.
Send your USH Tips to info@usher-syndrome.org
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.
