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Fundamental research

25 - 03 - 2018

Blindness and gene therapy

A multi-model study has advanced gene therapy tools for the treatment of retinal diseases.



Gene therapy is starting to show results in patients with genetic blindness. The method involves injecting a gene in the retina with a harmless viral vector (AAV) to correct a genetic abnormality and improve vision.


But the lack of knowledge on AAV behaviour in the subretinal space in primates decreases the capacity of this therapy to deliver the gene into the colour-sensitive cells (cones) of the fovea, the central area of ​​the retina where vision is most accurate.


To solve this problem, a team of researchers from the Inserm, the Pierre and Marie Curie University and the Vision Institute conducted a series of studies and developed a new vector associated with a promoter.


The studies were carried out on several models in order to gather the maximum of information to understand these very complex tissular, cellular and genetic mechanisms:

  • - mouse models
  • - retinal organoids derived from human stem cells
  • - human retinas obtained post-mortem
  • - macaques for observations over several months


These studies helped imagine and validate a new system consisting of an AAV vector and a cone specific promoter for gene integration.




Two AAVs were validated: AAV9 for injection into the subretinal space and AAV2 for injection into the vitreous humor in front of the retina. In both cases, a high level of gene transfer compatible with vision restoration was verified using optogenetics.


This new gene transfer system is an important step forwards towards the safe and effective use of gene therapy for the treatment of retinal diseases.