Grounded in Science
A balance of research news and well-being for the Usher syndrome community.
Welcome to the first 2026 edition of Grounded in Science! As we step into a new year, we share updates on promising research for Usher syndrome type 2A, practical tips for daily life, and stories from community members about connection and resilience. Our goal is to provide clear, reliable information and thoughtful perspectives that support you and your family, helping you feel informed, connected, and part of a global USH community throughout the year.
RESEARCH SPOTLIGHT: AAV-Mediated Exon Skipping Therapy for Usher Syndrome Type 2A
Researchers funded by the Usher Syndrome Society (USS) have made important progress toward a new treatment for Usher syndrome type 2A (USH2A). In a recent study published in the journal Molecular Therapy, Drs. Mauriac, Holt, Geleoc, Koehler, and their team worked on a therapy that helps cells “skip over” a common mistake in the USH2A gene. This research builds on earlier work that used small genetic tools called antisense oligonucleotides (ASOs) to help fix this problem.
The research team tested more than 600 different ASOs and identified stronger versions that worked better. One challenge with ASOs is that they break down over time, which means patients may need repeated injections.
To solve this problem, the researchers placed the improved ASOs inside harmless viruses. These viruses act like delivery trucks, helping the therapy last longer in the body and possibly reducing the need for multiple injections.
This new approach was successfully tested in lab-grown eye cells and inner ear cells. This is the first time viral delivery has been used to carry exon-skipping ASOs designed for Usher syndrome.
A similar method is already being tested in people with Duchenne muscular dystrophy. While more work is needed before this treatment can be tested in people with Usher syndrome, the research team is now looking for partners to help move this promising therapy forward.
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
Safety Clinical Trial Launched for Usher Syndrome 3 Drug
October 11, 2024: Usher syndrome type 3 (USH3) is caused by changes (mutations) in a protein called Clarin 1. One specific mutation, called N48K, makes the Clarin 1 protein unstable. Researchers discovered that a drug called BF844 can help stabilize this abnormal protein. In mice with the N48K mutation, BF844 was able to reduce hearing loss.
A Phase 1 clinical trial took place in Perth, Australia. The goal of this first trial is to make sure the drug is safe for people to take. This is the first important step toward bringing this treatment to patients with the N48K mutation in Clarin 1.
What this means for the Usher syndrome community:
This is an exciting new approach to treating Usher syndrome. A similar strategy has already been successful in treating Cystic Fibrosis, another genetic disease. If this approach works for Clarin 1, it could inspire scientists to try the same method for other Usher proteins that become unstable due to mutations.
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: Words of Hope
This month, we share powerful words from Divya, one of our incredible USH Ambassadors representing India. Here is her story:
“To me, the Usher Syndrome Coalition is more than an organization - it is a powerful family that connects hearts across the world. It brings together people with Usher syndrome, their families, and professionals who care deeply about improving lives. Through this community, we learn from each other’s stories, share love, and build strength together. Every story reminds us that we are not defined by our challenges, but by our courage to rise every day.
As a person with Usher syndrome type 3B, I no longer feel alone.
The Coalition gives me hope, confidence, and purpose - to keep moving forward, to speak up, and to help make the world more accessible and inclusive for everyone. Because of my Usher syndrome type 3B (HARS 3B), when I first learned about it and shared my story, I realized that nobody seemed to match my experiences or the number of years I’ve lived with it.
Then, a special person from the Usher Syndrome Coalition introduced my family and me to another family and professionals who also have experience with HARS 3B. Connecting with them and learning from HARS 3B specialists made a huge difference for us. It was such a relief to know I am not the only person with HARS 3B. I hope more HARS 3B families can connect together.
Not only that, I want to use my journey to inspire others, show what life with Usher can look like, and help support others in the community. There are always wonderful miracles that appear when the time is right, bringing light and good hope to our lives.
As someone with HARS 3B, my greatest hope is to raise awareness and help the world understand how people like us live our journeys with courage and faith. I want to see the HARS 3B community grow stronger and more connected, just like the other Usher syndrome types, because people with HARS 3B are very rare - and our stories deserve to be heard.
What gives me hope right now is seeing how far I’ve come, and how awareness and connection are spreading around the world for people with Usher syndrome.
Every time I meet someone who learns, supports, or understands, I feel that change is happening - slowly, but beautifully.
My vision of hope is for the world to see how we can turn darkness into light.
Together, we can help others begin new journeys of hope, believe in themselves, and develop creativity, happiness, and confidence. Families can see their children succeed, and lives can blossom like flowers - shining with communication, feelings, adaptation, and the strength to overcome barriers.
That is the true light of hope.”
Disclaimer: The information and resources on this website are provided for educational and informational purposes only and do not provide medical or treatment advice. Check out our mental health resources page on our website.
USH Tip
Getting back into weekly routines after the holiday season can be an adjustment. For the deafblind community, choosing the right wake-up alarm system can make mornings more reliable and less stressful. A variety of alerting options support different needs and preferences that include vibration, sound, light, and tactile signals.
FitSleeps Watch: A vibrating wristwatch that provides a quiet, personal wake-up alert.
Sonic Alert Alarm: An alarm with loud sound, vibration, and flashing lights for strong wake-up alerts.
Vibrating Alarm Clock: Another popular option to consider.
Portable Rechargeable Travel Alarm: A compact, rechargeable alarm with vibration and/or sound, designed for reliable wake-ups while traveling.
Sunrise Light Alarm: A light-based alarm that gradually brightens to signal wake-up time.
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.
