Genomet og syns- og høresansen

Lisbeth Tranebjærg; Nanna Dahl Rendtorff; Karen Brøndum-Nielsen

Genomet og syns- og høresansen

Translated title of the contribution: The genome in terms of audiology and ophthalmology.

Lisbeth Tranebjærg, Nanna Dahl Rendtorff, Karen Brøndum-Nielsen

Abstract

The article briefly reviews the impact of genetics and genomics in audiology and ophthalmology, respectively. The discovery of an increasing number of genes associated with hearing and visual impairment creates a foundation for a better understanding of pathophysiology, eventually leading to novel and more individualized treatments. Furthermore, genetic evaluation and counselling can contribute to molecular diagnosis, better prognostication, and mode of inheritance. Next generation sequencing is a technology well suited to dissect the vast genetic heterogeneity in these conditions.

Translated title of the contribution	The genome in terms of audiology and ophthalmology.
Original language	Danish
Journal	Ugeskrift for læger [online]
Volume	176
Issue number	46
ISSN	1603-6824
Publication status	Published - 10 Nov 2014

Cite this

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abstract = "The article briefly reviews the impact of genetics and genomics in audiology and ophthalmology, respectively. The discovery of an increasing number of genes associated with hearing and visual impairment creates a foundation for a better understanding of pathophysiology, eventually leading to novel and more individualized treatments. Furthermore, genetic evaluation and counselling can contribute to molecular diagnosis, better prognostication, and mode of inheritance. Next generation sequencing is a technology well suited to dissect the vast genetic heterogeneity in these conditions.",

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AU - Tranebjærg, Lisbeth

AU - Rendtorff, Nanna Dahl

AU - Brøndum-Nielsen, Karen

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N2 - The article briefly reviews the impact of genetics and genomics in audiology and ophthalmology, respectively. The discovery of an increasing number of genes associated with hearing and visual impairment creates a foundation for a better understanding of pathophysiology, eventually leading to novel and more individualized treatments. Furthermore, genetic evaluation and counselling can contribute to molecular diagnosis, better prognostication, and mode of inheritance. Next generation sequencing is a technology well suited to dissect the vast genetic heterogeneity in these conditions.

AB - The article briefly reviews the impact of genetics and genomics in audiology and ophthalmology, respectively. The discovery of an increasing number of genes associated with hearing and visual impairment creates a foundation for a better understanding of pathophysiology, eventually leading to novel and more individualized treatments. Furthermore, genetic evaluation and counselling can contribute to molecular diagnosis, better prognostication, and mode of inheritance. Next generation sequencing is a technology well suited to dissect the vast genetic heterogeneity in these conditions.

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JO - Ugeskrift for læger [online]

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Genomet og syns- og høresansen

Abstract

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