Learning Objectives: To review evidence that cholesteatoma is heritable, and to discuss methods that can be used to ascertain genetic pathways involved.

Abstract is for the round table on “Genetics in otology”

The aetiology of cholesteatoma remains elusive. Those with a history of chronic mucosal disease are susceptible, but only a few such individuals will develop cholesteatoma. What evidence is there that cholesteatoma is a heritable disorder, and what methods can we use to elucidate genetic susceptibility?

I will discuss evidence from a recent systematic review of the heritability and genetics of cholesteatoma. This evidence includes reports of familial clustering of disease, and family history in the Kibutz population of Israel. Presence of disease in certain syndromes, in particular congenital malformation syndromes of the head or ear, also suggests genetic pathways are perturbed in cholesteatoma, and that a relatively small number of loci may be relevant.

I will introduce the other speakers for this session, and outline epidemiological and laboratory methods that can be exploited to further research molecular and genetic pathways involved in cholesteatoma. I will discuss how the discovery of such pathways could lead to potential clinical benefit.