Cargando…

Diagnosing and Preventing Hearing Loss in the Genomic Age

Over the past two decades, significant technological advances have facilitated the identification of hundreds of genes associated with hearing loss. Variants in many of these genes result in severe congenital hearing loss with profound implications for the affected individual and their family. This...

Descripción completa

Detalles Bibliográficos
Autores principales: McDermott, John H., Molina-Ramírez, Leslie P, Bruce, Iain A, Mahaveer, Ajit, Turner, Mark, Miele, Gino, Body, Richard, Mahood, Rachel, Ulph, Fiona, MacLeod, Rhona, Harvey, Karen, Booth, Nicola, Demain, Leigh A. M., Wilson, Paul, Black, Graeme C., Morton, Cynthia C., Newman, William G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6798159/
https://www.ncbi.nlm.nih.gov/pubmed/31621509
http://dx.doi.org/10.1177/2331216519878983
_version_ 1783459982909374464
author McDermott, John H.
Molina-Ramírez, Leslie P
Bruce, Iain A
Mahaveer, Ajit
Turner, Mark
Miele, Gino
Body, Richard
Mahood, Rachel
Ulph, Fiona
MacLeod, Rhona
Harvey, Karen
Booth, Nicola
Demain, Leigh A. M.
Wilson, Paul
Black, Graeme C.
Morton, Cynthia C.
Newman, William G
author_facet McDermott, John H.
Molina-Ramírez, Leslie P
Bruce, Iain A
Mahaveer, Ajit
Turner, Mark
Miele, Gino
Body, Richard
Mahood, Rachel
Ulph, Fiona
MacLeod, Rhona
Harvey, Karen
Booth, Nicola
Demain, Leigh A. M.
Wilson, Paul
Black, Graeme C.
Morton, Cynthia C.
Newman, William G
author_sort McDermott, John H.
collection PubMed
description Over the past two decades, significant technological advances have facilitated the identification of hundreds of genes associated with hearing loss. Variants in many of these genes result in severe congenital hearing loss with profound implications for the affected individual and their family. This review collates these advances, summarizing the current state of genomic knowledge in childhood hearing loss. We consider how current and emerging genetic technologies have the potential to alter our approach to the management and diagnosis of hearing loss. We review approaches being taken to ensure that these discoveries are used in clinical practice to detect genetic hearing loss as soon as possible to reduce unnecessary investigations, provide information about reproductive risks, and facilitate regular follow-up and early treatment. We also highlight how rapid sequencing technology has the potential to identify children susceptible to antibiotic-induced hearing loss and how this adverse reaction can be avoided.
format Online
Article
Text
id pubmed-6798159
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher SAGE Publications
record_format MEDLINE/PubMed
spelling pubmed-67981592019-10-30 Diagnosing and Preventing Hearing Loss in the Genomic Age McDermott, John H. Molina-Ramírez, Leslie P Bruce, Iain A Mahaveer, Ajit Turner, Mark Miele, Gino Body, Richard Mahood, Rachel Ulph, Fiona MacLeod, Rhona Harvey, Karen Booth, Nicola Demain, Leigh A. M. Wilson, Paul Black, Graeme C. Morton, Cynthia C. Newman, William G Trends Hear ManCAD100: Review Over the past two decades, significant technological advances have facilitated the identification of hundreds of genes associated with hearing loss. Variants in many of these genes result in severe congenital hearing loss with profound implications for the affected individual and their family. This review collates these advances, summarizing the current state of genomic knowledge in childhood hearing loss. We consider how current and emerging genetic technologies have the potential to alter our approach to the management and diagnosis of hearing loss. We review approaches being taken to ensure that these discoveries are used in clinical practice to detect genetic hearing loss as soon as possible to reduce unnecessary investigations, provide information about reproductive risks, and facilitate regular follow-up and early treatment. We also highlight how rapid sequencing technology has the potential to identify children susceptible to antibiotic-induced hearing loss and how this adverse reaction can be avoided. SAGE Publications 2019-10-17 /pmc/articles/PMC6798159/ /pubmed/31621509 http://dx.doi.org/10.1177/2331216519878983 Text en © The Author(s) 2019 http://creativecommons.org/licenses/by-nc/4.0/ Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (http://www.creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle ManCAD100: Review
McDermott, John H.
Molina-Ramírez, Leslie P
Bruce, Iain A
Mahaveer, Ajit
Turner, Mark
Miele, Gino
Body, Richard
Mahood, Rachel
Ulph, Fiona
MacLeod, Rhona
Harvey, Karen
Booth, Nicola
Demain, Leigh A. M.
Wilson, Paul
Black, Graeme C.
Morton, Cynthia C.
Newman, William G
Diagnosing and Preventing Hearing Loss in the Genomic Age
title Diagnosing and Preventing Hearing Loss in the Genomic Age
title_full Diagnosing and Preventing Hearing Loss in the Genomic Age
title_fullStr Diagnosing and Preventing Hearing Loss in the Genomic Age
title_full_unstemmed Diagnosing and Preventing Hearing Loss in the Genomic Age
title_short Diagnosing and Preventing Hearing Loss in the Genomic Age
title_sort diagnosing and preventing hearing loss in the genomic age
topic ManCAD100: Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6798159/
https://www.ncbi.nlm.nih.gov/pubmed/31621509
http://dx.doi.org/10.1177/2331216519878983
work_keys_str_mv AT mcdermottjohnh diagnosingandpreventinghearinglossinthegenomicage
AT molinaramirezlesliep diagnosingandpreventinghearinglossinthegenomicage
AT bruceiaina diagnosingandpreventinghearinglossinthegenomicage
AT mahaveerajit diagnosingandpreventinghearinglossinthegenomicage
AT turnermark diagnosingandpreventinghearinglossinthegenomicage
AT mielegino diagnosingandpreventinghearinglossinthegenomicage
AT bodyrichard diagnosingandpreventinghearinglossinthegenomicage
AT mahoodrachel diagnosingandpreventinghearinglossinthegenomicage
AT ulphfiona diagnosingandpreventinghearinglossinthegenomicage
AT macleodrhona diagnosingandpreventinghearinglossinthegenomicage
AT harveykaren diagnosingandpreventinghearinglossinthegenomicage
AT boothnicola diagnosingandpreventinghearinglossinthegenomicage
AT demainleigham diagnosingandpreventinghearinglossinthegenomicage
AT wilsonpaul diagnosingandpreventinghearinglossinthegenomicage
AT blackgraemec diagnosingandpreventinghearinglossinthegenomicage
AT mortoncynthiac diagnosingandpreventinghearinglossinthegenomicage
AT newmanwilliamg diagnosingandpreventinghearinglossinthegenomicage