UCLA researchers in the Department of Ophthalmology have developed a novel approach to cure Usher Syndrome 1B.
BACKGROUND: Usher syndrome is defined as a condition whose major symptoms are deafness or hearing loss, and an eye disease called retinitis pigmentosa (RP), which affects vision. The ear-related effects of Usher’s disease are caused by an abnormal development of sound receptor cells in the inner ear. In contrast, progressive degeneration of RT initially causes night-blindness and a loss of peripheral vision until only central vision remains and results in a condition known as tunnel vision. The National Eye Institute reports that Usher syndrome is an inherited genetic disease attributed to 9 different genes and affects approximately 4 to 17 per 100,000 people in the United States. There is currently no cure for Usher syndrome.
INNOVATION: UCLA researchers led by Dr. David Williams have discovered a novel approach utilizing gene augmentation for the treatment of Usher syndrome. They have discovered that one of the most common USH1 genes, MYO7A, has two isoforms with varying expression. This discovery can inform and advance gene therapy strategies to aid in Usher syndrome treatments. From this, they have worked out a therapeutic gene augmentation strategy based on the introduction of specific constructs to restore additional function and reduce associated symptoms.
POTENTIAL APPLICATIONS:
- Prevention of blindness in Usher syndrome type 1B (USH1B)
- Management of visual effects of USH1B
ADVANTAGES:
- Restores function using wild-type gene
- One formulation for multiple cases and individuals
DEVELOPMENT-TO-DATE:
UCLA researchers have discovered and quantified the expression of two isoforms of the MYO7A gene in humans, pigs and mouse retinal pigment epithelium and neural retina necessary for treatment.
Related Papers (from the inventors only): Gilmore, W Blake et al. “Expression of two major isoforms of MYO7A in the retina: Considerations for gene therapy of Usher syndrome type 1B.” Vision research, vol. 212 108311. 14 Aug. 2023, doi:10.1016/j.visres.2023.108311