After my PhD in Neuroscience from the University of Lyon-I in 1995, I joined the laboratory of Professor C. Petit at the Institut Pasteur where resorting to identified deafness genes as an entry point has enabled us to enlighten both fundamental and medical aspects of hearing functioning and related disorders. Multidisciplinary approaches owing to the biochemical properties of the encoded proteins, identification of their molecular networks, animal modelling of the disease have provided major cues for understanding how the hearing organ develops and functions, illustrated by the more than 50 high-level published papers. Over the last 20 years, I contributed to the elucidation of the disease mechanisms of dozen deafness genes, several of which are involved in Usher syndrome (deafness and blindness in humans) (Jean-Valade Prize 2005, Fond Mazet-Danet Fondation de France, 2006; Chaire of Excellence Charles Nicolle, Institut Pasteur (2017-2019). Through integrative investigations, calling upon genetic, molecular biology, biochemistry, cell imaging, cell biology and physiology studies, we ascertained the involvement of most of these genes in several key processes of hearing and vision, and unraveled the corresponding disease mechanisms. My efforts are now aimed to speed up translating this progress into therapeutic approaches aiming to delay, prevent or cure progressive hearing and/or vision loss in animal preclinical models, and accelerate their transfer into clinics.
Blindness and deafness are the two most prevalent sensory impairments, each of which profoundly impact the life of the affected person, whether child or adult. Usher syndrome (USH), the main target of this project, […]
Hearing impairment, the most frequent sensory deficit, has a dramatic economic impact on healthcare systems worldwide. The HearInNoise project will be focused on late onset and progressive hearing impairment, more amenable to therapy but […]
The TherapUsher project funded by Retina-France is aimed at creating appropriate animal models for the USH1 retinal dystrophy. The Usher syndrome (USH) is the most prevalent cause of inherited deaf-blindness in humans. Three clinical […]
The enlightenment of the deafness: an holistic approach of Usher syndrome Recherche Hospitalo-Universitaire en Santé Professor Christine Petit (Institut Pasteur, Collège de France, Inserm, UPMC) and Dr. Aziz El-Amraoui (Institut Pasteur, Inserm, UPMC) coordinate the […]
Summaries of some last achievements (2012-2017): https://research.pasteur.fr/wp-content/uploads/2015/05/research_pasteur-aziz-el-amraoui-el-amraoui-past-achievements-2012-2017.pdf
2018Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome, J. Clin. Invest. 2018 Jul;.
2018Variants in CIB2 cause DFNB48 and not USH1J, Clin. Genet. 2018 Apr;93(4):812-821.
2018Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments, Sci Rep 2018 Jan;8(1):1968.
2017CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival, EMBO Mol Med 2017 Dec;9(12):1711-1731.
2017Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery, FEBS Lett. 2017 08;591(15):2299-2310.
2017Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment, J. Cell Biol. 2017 Jun;216(6):1849-1864.
2017Spectrin βV adaptive mutations and changes in subcellular location correlate with emergence of hair cell electromotility in mammalians, Proc. Natl. Acad. Sci. U.S.A. 2017 Feb;114(8):2054-2059.
2016Cadherins in the auditory sensory organ, Shintaro T. Suzuki & Shinji Hirano (eds.), In The Cadherin Superfamily, Springer, Japan. pp 341-361 (2016).
2016Novel gene function revealed by mouse mutagenesis screens for models of age-related disease, Nat Commun 2016 Aug;7:12444.
2016An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients, Eur. J. Hum. Genet. 2016 Dec;24(12):1730-1738.
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