Genetic Medicine for Hearing Loss: OTOF as Exemplar-Reference-Cited by-同舟云学术

Genetic Medicine for Hearing Loss: OTOF as Exemplar

Published:2021-11 Issue:10 Volume:32 Page:646-653
ISSN:1050-0545
Container-title:Journal of the American Academy of Audiology
language:en
Short-container-title:J Am Acad Audiol

Author:

Hickox Ann E.¹^ORCID,Valero Michelle D.¹^ORCID,McLaughlin James T.¹,Robinson Gregory S.¹,Wellman Jennifer A.¹,McKenna Michael J.¹,Sewell William F.²,Simons Emmanuel J.¹

Affiliation:

1. Akouos Inc., Boston, Massachusetts

2. Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts

Abstract

AbstractMillions of people worldwide have disabling hearing loss because one of their genes generates an incorrect version of some specific protein the ear requires for hearing. In many of these cases, delivering the correct version of the gene to a specific target cell within the inner ear has the potential to restore cochlear function to enable high-acuity physiologic hearing. Purpose: 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.

Publisher

Georg Thieme Verlag KG

Subject

Speech and Hearing

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0041-1730410.pdf

Reference52 articles.

1. Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF);M Rodríguez-Ballesteros;Hum Mutat,2003

2. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness;S Yasunaga;Nat Genet,1999

3. Diagnosis, intervention, and prevention of genetic hearing loss;T Yang;Adv Exp Med Biol,2019

4. Genetics of hearing loss: syndromic;T Koffler;Otolaryngol Clin North Am,2015

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The Opportunities and Challenges of Gene Therapy for Treatment of Inherited Forms of Vision and Hearing Loss;Human Gene Therapy;2023-09-01

2. The audiogram: Detection of pure-tone stimuli in ototoxicity monitoring and assessments of investigational medicines for the inner ear;The Journal of the Acoustical Society of America;2022-07