Grounded in Science
A balance of research news and well-being for the Usher syndrome community.
Staying Grounded in Science: Two Years of Progress and Growth
Today, October 10, is World Mental Health Day. On this day two years ago, we promised to deliver featured science news and the latest progress in USH research, balanced with resources to support your well-being throughout this journey of understanding Usher syndrome.
When it comes to the abundance of research updates, take what serves you and leave the rest. In the meantime, we encourage you to make space for your well-being.
On the second anniversary of this Grounded in Science Newsletter, we thank you for being on this journey with us!
USH2024 Connections Conference
Thank you to everyone who participated in the USH2024 Connections Conference, both in-person and virtually! We're proud to have hosted our largest conference ever, uniting the global Usher syndrome community.
We welcomed 482 total participants from 20 countries - that includes 396 in-person attendees and 86 virtual attendees. We also worked with 92(!) Access Providers - interpreters, SSPs/CoNavigators, captioners, etc - meaning this gathering has touched a total of 574 lives!
Recordings and a recap of the USH2024 Connections Conference are now available for all to check out!
Usher Syndrome Data Collection Program (USH DCP)
Now is a good time to make sure you’re in the USH Trust and USH DCP.
Once you’ve signed up for the USH DCP, make sure to fill out the diagnostic survey! We are trying to get 80 new signups by the end of the month so we can share more data like this:
For additional USH DCP sign-up support please fill out this form.
Have you joined the Usher Syndrome Coalition Discord Community Server? It’s a safe place for the community to connect with each other. Join here: https://discord.gg/czwHGaDu7W
Research Spotlight
AAVantgarde announces first patient dosed in First-In-Human Phase 1/2 LUCE-1 study, evaluating AAVB-081 (Dual-AAV) in retinitis pigmentosa related to Usher Syndrome type 1B
On September 16, 2024, AAVantgarde announced that the first participant received a dose in the Phase 1/2 LUCE-1 clinical trial. AAVB-081 is an investigational gene therapy that is given via an injection in the back of the eye in the space just behind the retina (subretinally).
The goal of the LUCE-1 trial by AAVantgarde is to learn if AAVB-081, is safe to treat retinitis pigmentosa (RP) in participants with Usher syndrome type 1B (USH1B). USH1B is caused by mutations in the MYO7A gene. This trial will also look at how well the participants tolerate any potential side effects.
Adeno-Associated Virus (AAV) is a small virus used as a vector - or a carrier - to deliver genes into cells. The MYO7A gene is too large to fit inside a standard AAV vector. AAVB-081 uses a proprietary “dual-AAV technology” (or two AAV vectors) to deliver a functional copy of the MYO7A gene directly into retinal cells. Once at its final destination, the two parts are able to combine back into one whole working gene.
This process worked well in animals. This trial is the first to test this innovative approach in humans. Prof. Francesca Simonelli is leading the study. There will be multiple trial sites for LUCE-1 study. Learn more about AAVantgarde here.
What this means for the USH community: The LUCE-1 trial represents a major advancement for the USH1B community, as it offers the potential for the “first ever” gene therapy treatment targeting progressive vision loss specifically for USH1B.
Check out our Current USH Research page specific to USH subtype as well as gene-independent therapeutic approaches.
In Case You Missed It: Science News Feature
Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis
March 21, 2024: This study looked at the support needs of Australian parents with children who have Usher syndrome type 1. Researchers interviewed parents to learn about their experiences and needs.
Four key support needs emerged: social, informational, practical, and emotional. Social support was crucial, especially connecting with other parents in similar situations. Informational needs included accurate, timely diagnoses and detailed guidance from knowledgeable professionals. Practically, parents required respite care, case coordination, flexible work hours, and financial support. Emotionally, parents needed help coping with grief, managing their child’s progressive vision loss, and finding appropriate mental health support.
What this means for the USH community: The findings highlight the various ways parents need support when caring for children with this condition and can provide crucial insight for healthcare professionals and policy-makers.
For more science news, check out our Science News page, organized by treatment approach and type of Usher syndrome.
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.
ON WELL-BEING: Health Literacy and Usher Syndrome
The U.S. Department of Health and Human Services (HHS) defines personal health literacy 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...
We share the research and peer-reviewed literature that offers insight into well-being: the science behind staying grounded. Fill out this poll to request a topic.
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. As always, consult with your trusted healthcare provider if you have questions or concerns about your situation.
USH Life Hack of the Month
(Send your USH life hacks to info@usher-syndrome.org.)
One of our awesome USH Ambassadors recently got the chance to test out the new Meta AI glasses. Check out what she had to say about her experience!
"Ray-Ban Meta can make hands-free calls, send and receive messages, control music playback, provide real-time information like news, weather, and sports updates, and create content like stories, summarize documents and menus and more! Video calling capabilities are available through FB messenger and WhatsApp and are currently being beta tested in the Aira app to help users navigate in real time through video chat from a user's point-of-view.
As technology advances, so will the benefits of Meta AI in its ability to assist users who are blind and low vision. The speakers are nestled in the earpiece of the glasses and use open-ear audio technology that allows you to hear audio cues and responses, while still being aware of your surroundings. The audio feedback is discrete and prescription lenses are also available to order, making these glasses a helpful tool for the Usher community!"
While we share information on assistive technology that may be beneficial, the Usher Syndrome Coalition does not endorse or promote any specific product.
