Genomet og syns- og høresansen

Lisbeth Tranebjærg; Nanna Dahl Rendtorff; Karen Brøndum-Nielsen

Genomet og syns- og høresansen

Lisbeth Tranebjærg, Nanna Dahl Rendtorff, Karen Brøndum-Nielsen

Abstract

The genome in terms of audiology and ophthalmology

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.

Bidragets oversatte titel	The genome in terms of audiology and ophthalmology.
Originalsprog	Dansk
Artikelnummer	V06140365
Tidsskrift	Ugeskrift for Laeger
Vol/bind	176
Udgave nummer	23
Sider (fra-til)	2160-2163
Antal sider	4
ISSN	0041-5782
Status	Udgivet - 10 nov. 2014

Citationsformater

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Genomet og syns- og høresansen

Abstract

Fingeraftryk

Citationsformater