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Norrie disease is a recessive X\u2010linked disorder, caused by\n                    <jats:italic>NDP<\/jats:italic>\n                    gene mutation. It manifests as blindness at birth and progressive sensorineural hearing loss, leading to debilitating dual sensory deprivation. To develop a gene therapy, we used a Norrie disease mouse model (\n                    <jats:italic>Ndp<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>tm1Wbrg<\/jats:italic>\n                    <\/jats:sup>\n                    ), which recapitulates abnormal retinal vascularisation and progressive hearing loss. We delivered human\n                    <jats:italic>NDP<\/jats:italic>\n                    cDNA by intravenous injection of adeno\u2010associated viral vector (AAV)9 at neonatal, juvenile and young adult pathological stages and investigated its therapeutic effects on the retina and cochlea. Neonatal treatment prevented the death of the sensory cochlear hair cells and rescued cochlear disease biomarkers as demonstrated by RNAseq and physiological measurements of auditory function. Retinal vascularisation and electroretinograms were restored to normal by neonatal treatment. Delivery of\n                    <jats:italic>NDP<\/jats:italic>\n                    gene therapy after the onset of the degenerative inner ear disease also ameliorated the cochlear pathology, supporting the feasibility of a clinical treatment for progressive hearing loss in people with Norrie disease.\n                  <\/jats:p>","DOI":"10.15252\/emmm.202317393","type":"journal-article","created":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T06:05:58Z","timestamp":1693289158000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease"],"prefix":"10.1038","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-7352-7894","authenticated-orcid":false,"given":"Valda","family":"Pauzuolyte","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aara","family":"Patel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James R","family":"Wawrzynski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0916-7347","authenticated-orcid":false,"given":"Neil J","family":"Ingham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yeh Chwan","family":"Leong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajvinder","family":"Karda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Bitner\u2010Glindzicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0370-3815","authenticated-orcid":false,"given":"Wolfgang","family":"Berger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4970-4730","authenticated-orcid":false,"given":"Simon N","family":"Waddington","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen P","family":"Steel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0937-2479","authenticated-orcid":false,"given":"Jane C","family":"Sowden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,8,29]]},"reference":[{"key":"BFEMMM202317393_CR1","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/S0378-5955(98)00109-9","volume":"123","author":"M Ando","year":"1998","unstructured":"Ando M, Takeuchi S (1998) Postnatal vascular development in the lateral wall of the cochlear duct of gerbils: quantitative analysis by electron microscopy and confocal laser microscopy. 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