Genomet og syns- og høresansen

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

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 titelThe genome in terms of audiology and ophthalmology.
OriginalsprogDansk
ArtikelnummerV06140365
TidsskriftUgeskrift for Laeger
Vol/bind176
Udgave nummer23
Sider (fra-til)2160-2163
Antal sider4
ISSN0041-5782
StatusUdgivet - 10 nov. 2014

ID: 137200986