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Genomet og syns- og höresansen
Engelsk titel: The genome in terms of audiology and ophthalmology Läs online Författare: Tranebjaerg, Lisbeth ; Rendtorff, Nanna Dahl ; Bröndum-Nielsen, Karen Språk: Dan Antal referenser: 21 Dokumenttyp: Översikt UI-nummer: 15017713

Tidskrift

Ugeskrift for Laeger 2014;176(23)2160-3 ISSN 0041-5782 E-ISSN 1603-6824 KIBs bestånd av denna tidskrift Denna tidskrift är expertgranskad (Peer-Reviewed)

Sammanfattning

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.