Presentation
Sylvain Ernest is interested in genetic deafness. He has studied Myo7a, a gene implicated in Usher syndrome, a syndrome associating early onset deafness and blindness at puberty. He uses the zebrafish as animal model for deciphering the role of genes, whose malfunction is responsible for deafness.
Since his arrival at Imagine Institute, he is working on rare forms of sensoryneural deafness, using a combination of genomic, molecular and cellular approaches, in the zebrafish, in order to elucidate the function of genes important for the audition in human.
Some publications (see below) about the study of Myo7a gene:
- Article describing the identification and the characterization of the first zebrafish model of human deafness
- Study of the regulation of Myo7a gene expression in zebrafish
Resources & publications
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Journal (source)Clin Genet
Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome.
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Journal (source)Sci Rep
Next generation phenotyping for diagnosis and phenotype-genotype correlations...
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Journal (source)J Exp Med
Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function ...