![]() This porcine model has the potential to address a major limitation in translational studies for genetic hearing loss. In contrast to other established rodent models, these pigs more accurately recapitulate human anatomy, which may translate to the disease phenotype. Lastly, we have developed and begun to characterize a CRISPR- generated swine model of Usher syndrome type IIA. Using an RNA- programmable deaminase, we are able to efficiently reverse the disease-associated single nucleotide polymorphism. Additionally, we have optimized a cutting-edge gene editing strategy to precisely target a pathogenic point mutation underlying Usher syndrome type IC in vitro. In murine models of Usher syndrome type IID and autosomal recessive hearing loss 31 (DFNB31), harboring mutations in the protein whirlin, we developed a viral-mediated gene replacement strategy to reverse the auditory and balance dysfunction as well as disentangle the relative contributions of whirlin isoforms in stereocilia morphology and maintenance. Despite the emergence of etiological data and promising therapeutic candidates for hearing restoration, no biological treatment exists for these patients. The hearing loss in Ushersyndrome type IIa was found to be more progressive, andthe progression started earlier than in non-IIa Usher syndrome.This suggests an auditory phenotype for Ushersyndrome type IIa that is different from that of other typesof Usher syndrome II. Extensive work over the past decades has elucidated the causative genes and pathogenic mutations underlying the three clinical Usher subtypes (USH-1, -2 and -3). One of the most common forms of syndromic hearing loss is Usher Syndrome, which is a rare genetic multi-sensory loss disorder responsible for sensorineural hearing loss, blindness due to retinitis pigmentosa and vestibular areflexia. ![]() Hearing loss can present on its own as non-syndromic, or together with other maladies as syndromic hearing loss. Hearing loss is the most prevalent neurological disorder in the world and has a profound impact on quality of life. ![]() Doctoral dissertation, Harvard University Graduate School of Arts and Sciences. What are the signs and symptoms of Usher sydrome Hearing loss from birth, usually milder than type I and mainly affects high tones. Novel gene therapy strategies for Usher syndrome. ![]()
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