GENETICS OF HEARING LOSS

Hearing loss (HL) is a frequent disorder affecting one in 1,000 children. By 2015 more than 700 million individuals will worldwide suffer from hearing loss, of those, some 90 million will be Europeans. We can distinguish between a sensorineural form in which there is either a cochlear or an eighth nerve lesion and a conductive form in which sound is not transmitted into inner ear. Hearing loss is mainly a genetic heterogeneous disorder. More than 130 loci have been described but only 45 genes identified. Thus strong additional efforts are required for gene identification. Moreover, there is a lack of information regarding the molecular epidemiology of each of the genes involved in HL. Finally, there is a strong need for acellular model able to functionally test gene mutants. For all these reasons the central scientific objective of the project is a comprehensive identification of the genetic causes of HL to serve as targets for improved medical care of patients and their relatives. To reach this goal we have planned a strategy characterized by a combination of basic and applied research activities including the a) identification of new genes by high-throughput sequencing (including exome sequencing) in a sample cohort, and by a genome-wide linkage/association approach in families and isolated populations, b) definition of molecular epidemiology data, new diagnostic guidelines and algorithms, and c) validation of a rapid, not expensive and not invasive method for GJB2 carriers screening based on ultrasound means.