Inherited deafness and genetics

Researchers supported by Deafness Research UK have successfully identified genes responsible for many forms of inherited deafness.

These include Waardenburg's Syndrome types I and II, Treacher Collins Syndrome, Pendred Syndrome and Usher Syndrome type 1b in which deafness is linked with other symptoms.

Possibly the most important breakthrough, by researchers in Leeds and London in 1997, has revealed that mutations in the Connexin-26 gene cause a significant proportion of congenital and childhood deafness.

This has opened the way for genetic counselling to help many more affected families, helping them understand what has gone wrong and why, and enabling them to make more informed choices for the future.