Research Articles - Usher Syndrome
- A 75-year-old woman with virtually complete vision and hearing loss from Usher syndrome went to the ophthalmology department at the Hospital Clinico San Carlos in Madrid, Spain, a while back, reporting some curious symptoms. At night she was hearing cabaret music and seeing what the doctors called “complex visual hallucinations.”
After a thorough neurological examination, the doctors determined that she was “aware of her reality” and wasn’t suffering from any mental illness or
- Researchers conducting a genetic study of Old Order Amish and Mennonite populations have identified five new genes in which defects cause congenital diseases, including a previously unidentified type of Usher syndrome, type 3B. Caused by mutations in the gene HARS, Usher syndrome type 3B leads to progressive hearing loss and vision loss from retinitis pigmentosa. The condition can also cause balance problems.
- In a research paper recently published in the journal Nature Genetics, an international team of scientists reported the identification of a new gene linked to Usher syndrome, the world’s leading cause of combined deafness and blindness. Usher-causing mutations in the gene, called CIB2, were found in a Pakistani family.
Subsequent experiments by the team revealed that, when it’s not mutated, CIB2 leads to the production of a protein critical to the development and function
A Foundation-funded research team from the Johns Hopkins School of Medicine has identified a technique that may someday enable vision-saving therapies to more effectively penetrate the retina. Led by Dr. Jeremy Nathans, the team found that reducing the levels of two proteins, Frizzled4 and Norrin, increases retinal blood vessel permeability, which eventually could provide better diffusion of future treatments. The discovery was made in a mouse study
- While human studies of vision-restoring gene therapies have been hailed as a major breakthrough, Foundation-funded scientists have not rested on their laurels; they continue their intensive research to make them even better.
The latest case in point: Scientists from the University of California, Berkeley and the University of Rochester identified a new adeno-associated virus, known as a 7m8 AAV, for more safely and effectively delivering therapeutic genes to the retinas of people with a variety of retinal degenerations. In contrast to existing AAVs, which are often administered