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Fighting blindness of Usher syndrome: diagnosis, pathogenesis and retinal treatment (TreatRetUsher)

Fighting blindness of Usher syndrome: diagnosis, pathogenesis and retinal treatment (TreatRetUsher)

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)
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Coordinator

UNIVERSITE PIERRE ET MARIE CURIE - PARIS 6

Address

Place Jussieu 4
75252 Paris

France

Activity type

Higher or Secondary Education Establishments

EU Contribution

€ 1 599 999

Administrative Contact

Christine Petit (Prof.)

Participants (12)

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INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE

France

EU Contribution

€ 459 999

EBERHARD KARLS UNIVERSITAET TUEBINGEN

Germany

EU Contribution

€ 829 480

MEDICAL RESEARCH COUNCIL

United Kingdom

EU Contribution

€ 502 000

FONDAZIONE TELETHON

Italy

EU Contribution

€ 502 000

AMSTERDAM MOLECULAR THERAPEUTICS (AMT) NV

Netherlands

EU Contribution

€ 502 000

Novartis Forschungsstiftung

Switzerland

FAUN - STIFTUNG NURNBERG

Germany

EU Contribution

€ 20 000

University of Pennsylvania

United States

EU Contribution

€ 341 826,75

FONDATION DE COOPERATION SCIENTIFIQUE VOIR ET ENTENDRE

France

EU Contribution

€ 408 000

JOHANNES GUTENBERG-UNIVERSITAT MAINZ

Germany

EU Contribution

€ 197 000

MASSACHUSETTS EYE AND EAR INFIRMARY

United States

EU Contribution

€ 135 695,25

FRIEDRICH MIESCHER INSTITUTE FOR BIOMEDICAL RESEARCH FONDATION

Switzerland

EU Contribution

€ 502 000

Project information

Grant agreement ID: 242013

Status

Closed project

  • Start date

    1 February 2010

  • End date

    31 January 2014

Funded under:

FP7-HEALTH

  • Overall budget:

    € 8 181 653,01

  • EU contribution

    € 6 000 000

Coordinated by:

UNIVERSITE PIERRE ET MARIE CURIE - PARIS 6

France