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...
Autores principales: | , , , , , , , , , , , , , , , , |
---|---|
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 |