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Full genetic diagnosis of hereditary hearing loss through new technologies: NGS - next generation sequencing and target resequencing

Abstract

This project aims to define the genetic etiology of a number of families with hereditary hearing loss without mutations in known genes and identify novel genes related to nonsyndromic sensorineural deafness, genotype-phenotype relationships in families with deafness etiology unclear. We will use two main approaches: 1) Application of a massive sequencing panel of 67 genes associated with deafness in people and families with syndromic deafness and nonsyndromic. 2) Sequencing exomas for identifying yet unmapped genes responsible for hearing loss in families previously studied by conventional techniques or by sequencing target. This is a proposal for basic and clinical research, in which the results should have immediate practical applicability and usefulness (translational research) in the diagnosis of hereditary deafness and the genetic counseling and future therapies to be developed that field. (AU)