Research projects
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Molecular genetic study of recessive hereditary autosomal hearing loss, linked to X chromosome and maternal mitochondria
15th National Programme for the allocation of Research Grants for Life and Matter Sciences
Rare diseases
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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27
Nov
2019
International Symposium Undiagnosed and rare diseases in children and adolescents: Translation to clinic and society Barcelona, Wednesday and Thursday, November 27 and 28, 2019 9:30 hours
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30
Jan
2020
International Symposium Understanding and reprogramming developmental visual disorders: from anophthalmia to cortical impairments Madrid, Thursday and Friday, 30 and 31 January 2020, 9:30 hours
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3
Jun
2021
Conversaciones online desde la Fundación Ramón Areces El futuro sin límite de las aplicaciones del ARN. Vacunas y tratamiento de enfermedades ONLINE: www.fundacionareces.tv/directo, Thursday, 3 June 2021, 19:00 hours
- Phenotyping of animal models of rare diseases with visual disability 2020 Senior Researcher : Lluís Montoliu José Research Centre or Institution : Centro Nacional de Biotecnología (CNB). CSIC. Madrid
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- Serum markers in patients with congenital melanocytic nevi: clinicopathological and genetic correlation 2020 Senior Researcher : Pedro Redondo Bellón Research Centre or Institution : Clínica Universidad de Navarra. Pamplona
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