![]() ![]() 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 in the news release. “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 in the release. 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, according to the news release. 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 in the news release. RP affects the retina, the eye’s light-sensitive layer, leading to a breakdown of cells in the retina which causes blindness. Dunn Endowed Professor of biomedical engineering, $1.6 million to support her work.Īccording to a University of Houston news release, 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). The National Eye Institute has awarded Muna Naash, PhD, John S. Due to the severity of the hearing loss, hearing aids are generally ineffective. There were no differences in performance or benefit between patients with USH2a and control patients before and after CI.ĬI increases speech intelligibility and improves quality of life in patients with USH2a.A 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. Type I Usher syndrome presents with congenital, profound sensorineural loss (see Figure 2A) and no vestibular function. The results of the questionnaire survey demonstrated a clear benefit from CI. The phoneme scores improved significantly from 41 to 87% in patients with USH2a (p = 0.02) and from 30 to 86% in the control group (p = 0.001). Patients with USH2a with a mean age of 59 years at implantation exhibited good performance after CI. Performance and benefit were evaluated by a speech intelligibility test and three quality-of-life questionnaires. Retrospective case-control study to evaluate the performance and benefit of CI in 16 postlingually deaf adults (eight patients with USH2a and eight matched controls). This study evaluates the performance and benefit of CI in patients with USH2a. Cochlear implantation (CI) is the next step in rehabilitation of such patients. In some patients with USH2a, severe progression of hearing impairment leads to insufficient speech intelligibility with hearing aids and issues with adequate communication and safety. ![]() Hearing rehabilitation starts in early childhood with the application of hearing aids. Usher syndrome type IIa (USH2a) is characterized by congenital moderate to severe hearing impairment and retinitis pigmentosa. ![]()
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