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Otoferlin hearing loss

WebSep 14, 2024 · The FDA has cleared an investigational new drug (IND) application for Akouos’ AK-OTOF, an investigational dual adeno-associated viral (AAV) vector-based gene therapy intended for the treatment of otoferlin gene (OTOF)-mediated hearing loss, clearing the way for a clinical trial to begin. 1AK-OTOF delivers transgenes encoding OTOF, the … WebJan 3, 2024 · The study of otoferlin-gene mediated hearing loss benefits from a reliable mouse model that recapitulates the natural history and the pathophysiology of the condition in humans.

9381 - Gene ResultOTOF otoferlin [ (human)]

WebIntroduction: The majority of hearing loss in children can be accounted for by genetic causes. Non-syndromic hearing loss accounts for 80% of genetic hearing loss in children, with mutations in DFNB1/GJB2 being by far the most common cause. Among the second tier genetic causes of hearing loss in children are mutations in the DFNB9/OTOF gene. … WebApr 13, 2024 · Otoferlin gene (OTOF)-mediated hearing loss is a form of sensorineural hearing loss caused by mutations in the OTOF gene. The OTOF gene encodes otoferlin, ... construction inception report https://directedbyfilms.com

OTOF otoferlin [Homo sapiens (human)] - Gene - NCBI

WebAK-OTOF is a gene therapy intended for the treatment of, and potential restoration of hearing, in individuals with sensorineural hearing loss due to mutations in the otoferlin (OTOF) gene. Normal o toferlin function enables the sensory cells of the ear (hair cells) to release neurotransmitter in response to stimulation by sound to activate auditory neurons. WebAuditory neuropathy is a special type of hearing loss caused by dysfunction of the synapse of the inner hair cells, the auditory nerve, and/or the auditory nerve itself. For patients with auditory neuropathy who have severe to profound hearing loss or failed auditory skills development with hearing-aids, cochlear implantation (CI) serves as the only possible … WebHearing loss and balance disorders affect millions of people worldwide, ... otoferlin-related hearing loss. Otoferlin deficiency is the leading genetic cause of auditory neuropathy in newborns, ... construction index 100

Otoferlin is a multivalent calcium-sensitive scaffold linking ... - PNAS

Category:Gene Therapy for OTOF-Mediated Hearing Loss Gets Green Light …

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Otoferlin hearing loss

Non-syndromic recessive auditory neuropathy is the …

WebPurpose: In this review, we outline our strategy for the development of genetic medicines with the potential to treat hearing loss. We will use the example of otoferlin gene ( OTOF )-mediated hearing loss, a sensorineural hearing loss due to autosomal recessive mutations of the OTOF gene. American Academy of Audiology. Webfindings suggest that the mutation found in C2C domain of the OTOF gene is likely to cause deafness in the studied family reflecting the importance of C2 domains of otoferlin in …

Otoferlin hearing loss

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WebAug 23, 2024 · Pathogenic variations in the OTOF gene are a common cause of hearing loss. To refine the natural history and genotype–phenotype correlations of OTOF-related auditory neuropathy ... and central nervous system. Otoferlin is an essential component of Ca 2+-dependent inner ear hair cell neurotransmitter exocytosis (Strenzke et al ... WebThe short form of the encoded protein has three C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and …

WebJul 14, 2024 · Deficiency of otoferlin causes profound prelingual deafness in humans and animal models. Here, we closely analyzed developmental deficits and degenerative … WebNov 7, 2024 · Otoferlin deficiency could be responsible for up to 8% of all cases of congenital hearing loss, around 20,000 people are affected in the United States and in …

WebNov 7, 2016 · Mutations in the otoferlin ( OTOF) gene lead to profound hearing loss in humans. Interestingly, a number of missense otoferlin mutations cause hearing defects … WebMay 16, 2024 · The OTOF gene (Locus: DFNB9), encoding otoferlin, is reported to be one of the major causes of non-syndromic recessive sensorineural hearing loss, and is also …

WebSep 10, 2024 · Under the Priority Review Voucher program, and subject to FDA approval of DB-OTO for the treatment of otoferlin-related hearing loss, Decibel may be eligible to receive one priority review voucher, which could then be redeemed to receive priority review for a subsequent marketing application for a different product or sold or transferred to another …

WebMar 10, 2016 · Rescue from early-onset hearing loss in a mouse model lacking the cyclin-dependent kinase inhibitor p19Ink4d. Rescue from early-onset hearing loss in a mouse model lacking the cyclin-dependent kinase inhibitor p19Ink4d Cell Death Dis. 2016 Mar 10;7(3):e2131. doi: 10.1038/cddis.2016.38. ... construction index for 2013 + miami floridaWebMar 29, 2024 · A Study of DB-OTO, an AAV Based Gene Therapy, in Children/Infants With Hearing Loss Due to Otoferlin Mutations. The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. educational chunking theoryWebPurpose: In this review, we outline our strategy for the development of genetic medicines with the potential to treat hearing loss. We will use the example of otoferlin gene ( OTOF ) … construction indemnification clause exampleWebSep 9, 2024 · Under the Priority Review Voucher program, and subject to FDA approval of DB-OTO for the treatment of otoferlin-related hearing loss, Decibel may be eligible to receive one priority review voucher ... construction in deerfield wiWebApr 3, 2024 · Hearing of Otof-deficient mice restored by trans-splicing of N- and C-terminal otoferlin. Tang H, et al. Hum Genet, 2024 Feb. PMID 36383253; Membrane Protein OTOF … educational classification of mrconstruction indemnity agreement sampleWebSeveral otoferlin C2 domains bind to Ca2+, phospholipids, and proteins. Current research reveals requirements for otoferlin in priming and fusion of synaptic vesicles during sound … construction index by country