Grounded in Science
A balance of research news and well-being for the Usher syndrome community.
Our thoughts are with our USH Community in Southern California as we witness the devastation from the wildfires. In light of recent events, it is even more imperative that disaster relief and emergency response factor in people with disabilities in communications and planning. For some resources, check out the Disability Rights California Emergency Preparedness page.
Research Spotlight: Nanoscope Therapuetics
Nanoscope Therapeutics is a clinical-stage biotechnology company developing gene therapies for retinal degenerative diseases. In March 2023, Nanoscope announced positive topline results from its Phase 2b RESTORE clinical trial for MCO-010, a gene therapy for retinitis pigmentosa.
Late last year, in October 2024, Nanoscope presented conclusive trial data that demonstrated high and low doses of MCO-010 led to a statistically significant improvement in visual acuity over patients who received a placebo. The degree and duration of visual improvement achieved in the trial were unprecedented. Following these promising results, Nanoscope plans to file a Biologics License Application (BLA) in early 2025 to seek approval for marketing and commercializing this groundbreaking treatment. Details about the BLA process will be featured in the January 24th edition of our Science Education Clinical Trials series, available on our Facebook and Instagram channels.
Nanoscope Therapeutics Press Release
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
Researchers closing in on genetic treatments for hereditary lung disease, vision loss
March 4, 2024: For potential gene therapies for retinal degenerative diseases to be effective, there needs to be a good way to deliver the therapy to the photoreceptors in the retina. One delivery strategy is to use lipid nanoparticles (also called LNPs), which are a protective shell that gets wrapped around the gene therapy cargo and helps the cargo enter its target cell.
One common challenge with using LNPs is that they tend to accumulate in certain cells in the body (like the liver) rather than in the retina. To overcome this challenge, Drs. Gaurav Sahay and Yulia Eygeris tested dozens of modifications in the lipids that make up the protective shell of the LNP. They tested how these modifications improved the ability of the LNPs to deliver cargo to the photoreceptors and identified several candidates that could effectively deliver their cargo to rods and cones.
What does this mean for the USH Community? Gene therapy is a potential treatment for USH. However, one challenge for effective gene therapy is delivering the cargo (a healthy copy of a gene) to the right cells, like photoreceptors. It's also important to avoid delivering it to cells that don't need it. LNPs are a great candidate for gene therapy delivery because they can potentially carry very large cargo (like some of the USH genes). So, improvements in LNP technology that lead to effective delivery of large cargo to the photoreceptors can then be applied to USH subtypes caused by mutations in large genes.
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. As always, consult with your trusted healthcare provider if you have questions or concerns about your situation.
For more science news, check out our Science News page, organized by treatment approach and type of Usher syndrome.
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. As always, consult with your trusted healthcare provider if you have questions or concerns about your situation.
ON WELL-BEING: Setting Intentions for the New Year
As we welcome the new year, many people turn to resolutions. Let’s consider an alternative: setting intentions...
USH Life Hack of the Month
(Send your USH life hacks to info@usher-syndrome.org.)
Flashlights are an incredible, affordable tool to keep at all times.
Ambutech makes a flashlight that clips on white canes and has adjustable-size clips for various canes - shop the Pharos Cane Light here. For those who don’t use white canes, a flashlight with a curved 180 degree span and different light settings is an excellent option, like this one from Amazon, which is also water-resistant.
