Usher Syndrome already robs individuals of their hearing, we want to ensure it doesn’t also take their vision. We’re focused on finding a treatment for Usher 1 related retinitis pigmentosa in the next 2-5 years. With the approval of Luxturna - the first FDA approved gene therapy for a genetic disease, and ProQR trials currently under way for USH2A - inherited retinal disease treatments are being discovered, tested, proven and manufactured today. Because Usher Syndrome types are so gene specific, gene therapy strategies need to focus on that exact gene in order to find a valid gene therapy treatment. HOWEVER, we’re also looking at other promising strategies that have the potential to slow, stop or reverse retinitis pigmentosa (RP) which are not gene specific and have the potential to help any one suffering from RP. We’re finding and identifying research team(s) who are working on the most promising strategies and helping them get to clinical trials.
What is Usher Syndrome Type1
Usher Syndrome is a rare genetic condition characterized by partial or total hearing loss and vision loss that worsens over time. There are 3 categories of Usher Syndrome - Usher 1, 2 and 3 - defined by the severity of hearing loss and speed of vision loss - Type 1 being the most severe.
Individuals with Usher Syndrome Type 1 are born with profound hearing loss and progressive vision loss caused by retinitis pigmentosa which becomes apparent in childhood, starting with a loss of night vision, leading to progressively worsening tunnel vision. Usher 1 also causes abnormalities of the vestibular system, which helps maintain the body's balance and orientation in space.
Usher Syndrome Type 1B is caused by mutations or variants in the MYO7A gene. The MYO7A gene provides instructions for making a protein called myosin VIIA. These proteins help transport molecules within cells. Myosin VIIA is made in the inner ear and in the retina, which is the light-sensitive tissue at the back of the eye. In the inner ear, myosin VIIA plays a role in the development and maintenance of hairlike projections called stereocilia. In the retina, myosin VIIA is found primarily in a thin layer of cells called the retinal pigment epithelium (RPE). Myosin VIIA plays a role in the development and maintenance of this tissue, which supports and nourishes the retina.
For more information please visit: NIDCD