Research Articles - Usher Syndrome
- 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
- The first-ever gene therapy for Usher syndrome, a devastating condition that causes both blindness and deafness, has moved into a Phase I/IIa clinical trial at the Foundation-funded Casey Eye Institute, Oregon Health & Science University (OHSU). The research team, led by Dr. Richard Weleber, is preparing to treat its first patient.
Developed by Oxford BioMedica, a biopharmaceutical company in the U.K. and a Foundation partner, the
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