{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,2]],"date-time":"2025-10-02T16:26:00Z","timestamp":1759422360114,"version":"3.37.3"},"reference-count":52,"publisher":"American Academy of Audiology","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["j am acad audiol"],"published-print":{"date-parts":[[2021,11,1]]},"abstract":"<jats:p><jats:bold>Abstract<\/jats:bold> Millions 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\n 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 (<jats:italic>OTOF<\/jats:italic>)-mediated\n hearing loss, a sensorineural hearing loss due to autosomal recessive mutations of the <jats:italic>OTOF<\/jats:italic> gene.<\/jats:p>","DOI":"10.1055\/s-0041-1730410","type":"journal-article","created":{"date-parts":[[2022,5,24]],"date-time":"2022-05-24T22:47:58Z","timestamp":1653432478000},"page":"646-653","source":"Crossref","is-referenced-by-count":4,"title":["Genetic Medicine for Hearing Loss: <i>OTOF<\/i> as Exemplar"],"prefix":"10.3766","volume":"32","author":[{"given":"Ann E.","family":"Hickox","sequence":"first","affiliation":[{"name":"Akouos Inc., Boston, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle D.","family":"Valero","sequence":"additional","affiliation":[{"name":"Akouos Inc., Boston, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James T.","family":"McLaughlin","sequence":"additional","affiliation":[{"name":"Akouos Inc., Boston, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gregory S.","family":"Robinson","sequence":"additional","affiliation":[{"name":"Akouos Inc., Boston, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer A.","family":"Wellman","sequence":"additional","affiliation":[{"name":"Akouos Inc., Boston, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael J.","family":"McKenna","sequence":"additional","affiliation":[{"name":"Akouos Inc., Boston, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William F.","family":"Sewell","sequence":"additional","affiliation":[{"name":"Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuel J.","family":"Simons","sequence":"additional","affiliation":[{"name":"Akouos Inc., Boston, Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2087","reference":[{"issue":"06","key":"ref1","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1002\/humu.10274","article-title":"Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF)","volume":"22","author":"M Rodr\u00edguez-Ballesteros","year":"2003","journal-title":"Hum Mutat"},{"issue":"04","key":"ref2","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/7693","article-title":"A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness","volume":"21","author":"S Yasunaga","year":"1999","journal-title":"Nat Genet"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1007\/978-981-13-6123-4_5","article-title":"Diagnosis, intervention, and prevention of genetic hearing loss","volume":"1130","author":"T Yang","year":"2019","journal-title":"Adv Exp Med Biol"},{"key":"ref4","first-page":"1993","volume-title":"Hereditary hearing loss and deafness overview","author":"A E Shearer","year":"1999"},{"issue":"06","key":"ref5","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1016\/j.otc.2015.07.007","article-title":"Genetics of hearing loss: syndromic","volume":"48","author":"T Koffler","year":"2015","journal-title":"Otolaryngol Clin North Am"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"107502","DOI":"10.1016\/j.biotechadv.2019.107502","article-title":"The approved gene therapy drugs worldwide: from 1998 to 2019","volume":"40","author":"C C Ma","year":"2020","journal-title":"Biotechnol Adv"},{"issue":"05","key":"ref7","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1038\/nrg2988","article-title":"Therapeutic in vivo gene transfer for genetic disease using AAV: progress and challenges","volume":"12","author":"F Mingozzi","year":"2011","journal-title":"Nat Rev Genet"},{"issue":"97","key":"ref8","first-page":"67","article-title":"State-of-the-art human gene therapy: part I. 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