![]() Usher syndrome type 1 is characterized by severe to profound hearing loss in both ears at birth (congenital deafness) and balance problems. These narrowed visual fields are also referred to as “tunnel vision.” Issues with balance are seen mainly in individuals with Usher syndrome types 1 and 3, although balance difficulties in Usher syndrome type 2 have been reported. Studies show that clear central vision may be maintained for many years even while side (peripheral) vision decreases. The vision loss caused by RP may begin during childhood or later during life, and often first presents with difficulty seeing at night or in low light (“night blindness”). Sensorineural hearing loss may be profound or mild and may be progressive. RP eventually causes retinal degeneration leading to progressive loss of vision and legal blindness. Usher syndrome is characterized by deafness due to an impaired ability of the inner ear and auditory nerves to transmit sensory (sound) input to the brain (sensorineural hearing loss) as well as abnormal accumulation of colored (pigmented) material on the nerve-rich membrane (the retina) lining the eyes (retinitis pigmentosa or RP). ![]() Stay Informed With NORD’s Email Newsletter.Find a Rare Disease Patient Organization.Rare Disease Cures Accelerator (RDCA-DAP).Find Clinical Trials & Research Studies.Launching Registries & Natural History Studies.A Podcast For The Rare Disease Community.The work will provide a solid foundation for understanding the function of each usherin isoform and developing an effective gene therapy platform to treat USH2A associated visual defects, she said. ![]() “Understanding which isoforms of usherin are expressed in the retina and the cochlea and what role they play (in contrast to mutant pathogenic forms) is essential in developing an effective gene therapy construct,” Naash said. Naash has already cloned two usherin isoforms to be tested with her innovative platform to safely advance gene therapy for USH2A. To rescue vision loss, Naash’s non-viral therapy targets the mutation in usherin, the protein product that causes Usher Syndrome Type 2A. “Developing an effective treatment for USH2A has been challenging due to its large coding sequence (15.8 kb) that has precluded its delivery using standard approaches and the presence of multiple isoforms with functions that are not fully understood,” said Naash, who will also evaluate the long-term efficacy of the best therapeutic platform for future translation to the clinic. Intravitreal treatment consists of injections directly into the vitreal chamber of the eye. Gene therapy is the introduction of a normal gene into cells to correct genetic disorders. “Our goal is to advance our current intravitreal gene therapy platform consisting of DNA nanoparticles/hyaluronic acid nanospheres to deliver large genes in order to develop safe and effective therapies for visual loss in Usher Syndrome Type 2A,” Naash said. RP affects the retina, the eye’s light-sensitive layer, leading to a breakdown of cells in the retina which causes blindness. Usher Syndrome Type 2A, caused by mutations of the USH2A gene, can include hearing loss from birth and progressive loss of vision, prompting retinitis pigmentosa (RP). ![]() Dunn Endowed Professor of biomedical engineering, $1.6 million to support her work. The National Eye Institute has awarded Muna Naash, John S. Engineering Program for Innovation and Entrepreneurship (EPIE)Ī University of Houston researcher is expanding a method of gene therapy with the hopes it will restore vision loss in Usher Syndrome Type 2A (USH2A), a rare genetic disease.Virtual Institutes for Cyber and Electromagnetic Spectrum Research and Employ (VICEROY).How to Engineer Your Future, Admissions & More.
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