Usher syndrome is the most common genetic cause of combined deafness and blindness. More than 400,000 people are affected by this disorder worldwide. There is currently no cure for Usher syndrome. 

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Usher Syndrome Coalition: Connecting the Global Usher Community

Our mission is to raise awareness and accelerate research while providing information and support to individuals and families affected by Usher syndrome. We strive to be the most comprehensive resource for the Usher syndrome community, bridging the gap between researchers and families. Learn more and get involved.  

Lane, a mother of two children with Usher Syndrome, writes about her experience at the Usher syndrome Coalition Annual Conference. She explains how these conferences have positively affected not just herself but her whole family.

This study discovered that a classic anti-malarial drug can help sensory cells of the inner ear recognize and transport the Clarin-1 protein to its normal location in the cell. Usher syndrome 3A is due to mutations in Clarin-1. The researchers found that the mutant Clarin-1 protein is not transported properly and then tested drugs that target the transport system. They found that the drug, artemisinin, restores inner ear sensory cell function, and thus hearing and balance, in zebrafish genetically engineered to have mutant human versions of the Clarin-1 protein.

What this means for Usher syndrome: This study identifies a drug that might be useful for treating hearing loss in Usher syndrome 3A patients.

This study aims to analyze the effect of nutraceutical molecules with antioxidant properties, on progression of the disease in an established animal model with retinitis pigmentosa (RP). We saw that long-term treatment with a flavanone (naringenin) or flavanol (quercetin) present in citrus fruits, grapes, and apples, preserves retinal functionality. These two molecules possess antioxidant properties, limiting neurodegeneration, and thus preventing cone damage.

What this means for Usher syndrome: If this treatment preserves cone functionality, it could slow vision loss in Usher syndrome patients.

OliX Pharmaceuticals Inc., a leading developer of RNAi therapeutics announced today an expansion of its ocular disease pipeline. OLX304A has been developed as an RNAi therapeutic with an undisclosed target for the treatment of Retinitis Pigmentosa. OLX304A is a program to develop a treatment that targets a single gene for patients with Retinitis Pigmentosa regardless of their disease-causing mutation. This treatment is different from conventional strategies that focus on targeting individual disease-causing genes.

What this means for Usher syndrome: This strategy could result in a single type of treatment that could help all Usher syndrome patients.

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