Search anything and hit enter
  • Teams
  • Members
  • Projects
  • Events
  • Calls
  • Jobs
  • publications
  • Software
  • Tools
  • Network
  • Equipment

A little guide for advanced search:

  • Tip 1. You can use quotes "" to search for an exact expression.
    Example: "cell division"
  • Tip 2. You can use + symbol to restrict results containing all words.
    Example: +cell +stem
  • Tip 3. You can use + and - symbols to force inclusion or exclusion of specific words.
    Example: +cell -stem
e.g. searching for members in projects tagged cancer
Search for
Count
IN
OUT
Content 1
  • member
  • team
  • department
  • center
  • program_project
  • nrc
  • whocc
  • project
  • software
  • tool
  • patent
  • Administrative Staff
  • Assistant Professor
  • Associate Professor
  • Clinical Research Assistant
  • Full Professor
  • Graduate Student
  • Lab assistant
  • Non-permanent Researcher
  • Permanent Researcher
  • Pharmacist
  • PhD Student
  • Physician
  • Post-doc
  • Project Manager
  • Research Associate
  • Research Engineer
  • Retired scientist
  • Technician
  • Undergraduate Student
  • Veterinary
  • Visiting Scientist
  • Deputy Director of Center
  • Deputy Director of Department
  • Deputy Director of National Reference Center
  • Deputy Head of Facility
  • Director of Center
  • Director of Department
  • Director of Institute
  • Director of National Reference Center
  • Group Leader
  • Head of Facility
  • Head of Operations
  • Head of Structure
  • Honorary President of the Departement
  • Labex Coordinator
Content 2
  • member
  • team
  • department
  • center
  • program_project
  • nrc
  • whocc
  • project
  • software
  • tool
  • patent
  • Administrative Staff
  • Assistant Professor
  • Associate Professor
  • Clinical Research Assistant
  • Full Professor
  • Graduate Student
  • Lab assistant
  • Non-permanent Researcher
  • Permanent Researcher
  • Pharmacist
  • PhD Student
  • Physician
  • Post-doc
  • Project Manager
  • Research Associate
  • Research Engineer
  • Retired scientist
  • Technician
  • Undergraduate Student
  • Veterinary
  • Visiting Scientist
  • Deputy Director of Center
  • Deputy Director of Department
  • Deputy Director of National Reference Center
  • Deputy Head of Facility
  • Director of Center
  • Director of Department
  • Director of Institute
  • Director of National Reference Center
  • Group Leader
  • Head of Facility
  • Head of Operations
  • Head of Structure
  • Honorary President of the Departement
  • Labex Coordinator
Search
Go back
Scroll to top
Share
Starting Date
01
Nov 2017
Ending Date
31
Oct 2019
Status
Ongoing
Members
1
Structures
1

About

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, is the most frequent cause of inherited deaf-blindness in humans, with a roughly estimated prevalence of 1/10000. The success of gene therapy in some human retinopathies has raised hope for the development of more specific approaches to treat USH-associated retinal defects. We recently discovered that USH1 vision loss is linked to a subcellular structure that is present in frog, pig and primates photoreceptors but not in those of rodents. As mice cannot reproduce the USH1 retinopathy, we propose the generation of preclinical models for USH1 in large animals, using the CRISPR/Cas9 system. Co-injection of Cas9 mRNA and single guide RNAs targeting the USH1 gene will be used, first in vitro and ex vivo to select the most efficient sgRNA pairs, followed by in vivo experiments. Upon confirmation of the USH1 inactivation, without off-target effects, we will be used to characterize the retinal disease progression, using non-invasive bioimaging (Fundus, OCT), functional (ERG) explorations, molecular and structural (at light and electron microscopy levels) approaches will to establish relevant clinical endpoints for the foreseen preclinical and clinical studies.