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Molecular genetic study of recessive hereditary autosomal hearing loss, linked to X chromosome and maternal mitochondria

15th National Research Competition in Life and Earth Sciences

Rare diseases

Senior Researcher : Ignacio del Castillo Fernández del Pino

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Research Centre or Institution : Hospital Universitario Ramón y Cajal. Madrid.

Abstract

Hearing loss or hearing impairment forms a very heterogeneous group of disorders with high prevalence. Over 60% of cases are due to genetic causes. Non-syndromic hereditary hearing losses are the most frequent (70% of cases). This project aims to identify new genes for non-syndromic hearing loss, describe the spectrum of mutations and their frequency in the Spanish population in known hearing loss genes, to study genotype-phenotype correlations with particular attention to potential modifier genes, and create knock-in mouse models for the most important functional and phenotypic mutations. It is expected that the results of the project will benefit affected individuals through the improvement of molecular diagnosis and genetic counselling and provide the basis for the development of new therapies.

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