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Projects. Life and Earth Sciences

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

Lead Researcher:
Ignacio del Castillo Fernández del Pino 

Research Centre:
Hospital Universitario Ramón y Cajal. Madrid.

Synopsis:

Ignacio del CastilloHearing 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.

 

SCIENTIFIC PRODUCTION


4 articles published in Journals
2 papers at national conferences
7 papers at international conferences

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Ignacio del Castillo Fernández del Pino

Born in Madrid on 15 April 1962. Degree in Biological Sciences from the Complutense University of Madrid (June 1985). Ph.D. in Biological Sciences from the Complutense University of Madrid (June 1991). Member of the Spanish Society of Biochemistry and Molecular Biology, the Spanish Association of Human Genetics and the European Society of Human Genetics. Queen Sophia Prize for Prevention of Impairments, 2002. Jobs and positions held 1985-1991 Ph.D. work at the Molecular Genetics Unit, Ramón y Cajal University Hospital, Madrid, under the supervision of Dr. Felipe Moreno Herrero. 1991-1993 Postdoctoral sojourn at the Unité de Génétique Moléculaire Humaine, Institut Pasteur, Paris, France, under the supervision of Prof. Christine Petit. 1993 - present Researcher at the Molecular Genetics Unit, Ramón y Cajal University Hospital, Carretera de Colmenar, km 9, 28034 Madrid, Spain. Research and teaching activities Principal investigator in 7 research projects. Collaborator on 15 research projects. Supervisor of three doctoral theses (all given a distinction cum laude) Guest speaker at national and international conferences and meetings. Referee for more than 70 articles in 23 international journals.


Publications:

55 original research articles in international peer-reviewed journals; with an average impact factor of 7,505 and a citation factor of h=20; 10 original research articles in national peer-reviewed journals and 13 book reviews or chapters (6 international, 7 national).


*All intellectual property rights belong to the author. Reproduction of all or part of the work without permission from the author is prohibited.

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