Objective
Usher syndrome (USH) is the most frequent hereditary cause of deafness associated to blindness. It is a rare disease, affecting 1 in every 10.000 individuals, with an autosomal recessive monogenic inheritance. Deafness is congenital while the retinitis pigmentosa is not detected before the age of 8 to 10. These patients suffer from a dreadful disability as their two major senses are impaired. Important scientific advances have been achieved, mostly by auditory scientists: 9 causative genes have been identified. The hearing impairment pathogenesis has been elucidated, ie, an early developmental defect of auditory sensory cells. Our project gathering scientists and physicians from both the auditory and visual fields aims : -to halt the no longer acceptable underdiagnosis of this syndrome. Because, children affected with Usher type I, the most severe form, are usually diagnosed as severely or profoundly deaf only, parents may choose visual/sign language whereas these children would have taken full advantage from an early cochlear implantation. -To make these patients benefit from gene replacement therapy in the retina that recently showed tremendous results. We propose : 1/ To develop new clinical and molecular tools and guidelines for an early diagnosis thereafter broadly disseminated. 2/To clarify the retinal pathogenesis of Usher syndrome (type I and II) by an unpreceding effort to generate animal and tissue models that will be characterised in depth by multidisciplinary investigations including innovative methods. Mouse, frog, pig in vivo models and cultured retinal explants will be used, as well as human retinal cultures. This will also provide the necessary tests to evaluate phenotype rescuing. 3/To prevent and treat the retinal defect by associated adenovirus (AAV) gene therapy. This includes optimisation of the gene transfer and selection of patients to lead to a clinical trial carried out for one or more Usher genes (USH1B, 1C, 1G & USH2D)
Fields of science (EuroSciVoc)
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: https://op.europa.eu/en/web/eu-vocabularies/euroscivoc.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: https://op.europa.eu/en/web/eu-vocabularies/euroscivoc.
- humanities languages and literature linguistics sign language
- medical and health sciences medical biotechnology genetic engineering gene therapy
- medical and health sciences clinical medicine ophthalmology
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Programme(s)
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Topic(s)
Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
Call for proposal
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
FP7-HEALTH-2009-single-stage
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Funding Scheme
Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
Coordinator
75252 PARIS
France
The total costs incurred by this organisation to participate in the project, including direct and indirect costs. This amount is a subset of the overall project budget.