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Dominant autosomal sensorineural hypoacusis: expansion of molecular diagnosis by applying new technologies, undertaking functional analysis and creating murine models
16th national competition for scientific and technical research
Rare diseases
Research Centre or Institution : Hospital Universitario Ramón y Cajal, IRYCIS. Madrid.
Abstract
- 20 new families have been recruited with autosomal dominant sensorineural hearing loss (HNAD in its Spanish acronym). Four of these have been genotyped at complete genome level (panel 6k SNPs, Illuminate) and the binding is currently being analysed. A family with DFNA49 hypoacusis has been subjected to whole-exome sequencing and the results are being analysed.
- Two new-generation diagnostic tools have been designed. The first of these, OTO-NGS, consists of a capture panel for massive sequencing (Nimblegen technology) which includes the regions of the genome (exons+introns) of all the genes associated with HNAD and which is now being validated in the SOLiD (Life Technologies) platform. Initial results indicate that the system has identified the pathogenic mutation in the first 12 control individuals analysed. The second tool is OTO-array: This is based on Agilent technology, consists of a CGH array to explore the genomic integrity of all the loci associated with HNAD, and is currently being validated.
- Functional studies. KCNQ4-DFNA2: the electrophysiological study has continued being completed in Xenopus oocytes, with western-blot, cytometry, co-localisation with RE and Golgi in NIH3T3 of the 15 mutations described to date. All of these, except the truncating mutations, cause negative dominance associated with a traffic defect mediated by the interaction of the mutant forms with the wild one at the level of the Ct region of the protein. Characterisation is currently taking place to find which residues are involved in this interaction. EYA4: the generation of vectors has commenced for the expression studies.
- NGS in the auditory ancestor line of the human fetal cochlea (hFASCs) has given results of the expression profile of microRNAs (small-RNASeq) and genes (mRNA-SEQ) for two biological replicas, and the results are being analysed.
- TECTA mice: the study has been completed (morphological and functional) for the tectorial membrane in knock-in mice (C1837G, C1619S and L1820F-G1824D) at the age of 12 months (manuscript being prepared).
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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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8
Apr
2024
Panel Discussion Mundo de las prótesis, los nuevos materiales, sus complicaciones y su futuro Madrid , Lunes, 8 de abril 2024. 17.00 horas
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23
Apr
2024
Session Situación actual de las Enfermedades Raras en España Madrid, Martes, 23 de abril de 2024, 10:00 horas
- 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
- The neuronal glycine transporter GlyT2 in herplexia: a glycinergic pathology of development 2020 Senior Researcher : Beatriz López Corcuera Research Centre or Institution : Centro de Biología Molecular Severo Ochoa. CSIC - UAM
- 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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