Metabolic and redox signaling of the nucleoredoxin-like-1 gene for the treatment of rod-cone distrophies


Team leader : Thierry Léveillard

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Our efforts are focused on exploring the molecular mechanisms of the interaction between rod and cone photoreceptors and developing novel therapeutic strategies for inherited binding diseases


Genomics is the science based on the decoding of the human genome. It is now possible to test the full genome and to identify genes coding for proteins which prolong cone survival. These proteins will serve as basis for treatments aiming to preserve central vision in patients suffering from hereditary retinal degeneration.

Our team has tested 210,000 retinal genes on cone cell cultures and identified a new gene, Nxnl1, which encodes for two products by alternative splicing: rod-derived cone viability factor (RdCVF) and the thioredoxin RdCVFL. The protective effect of the RdCVF protein on cones and vision preservation has been demonstrated in two animal models for rod-cone degeneration. It is also established that RdCVF protein is part of a family with recognized protective effects against oxidative stress, particularly that induced by strong light.

Degeneration of rods in retinitis pigmentosa, the most prevalent form of genetically inherited retinal diseases, leads to the loss of RdCVF expression and secondary degeneration of cones. The loss of function of cones and presumably the central vision in human can be prevented by the administration of RdCVF independatly of the causative mutation in any of the 63 ge,nes know today. We are currently working on the development of an RdCVF based treatment, which shall first be tested in a clinical trial at the Clinical Investigation Center of Quinze-Vingts hospital. Further investigation into the molecular mechanisms of action of this protein would enable a better understanding of the factors leading to cone death during the second phase of the disease.


Research areas

  • Functional genomics of the retina
  • Therapy of inherited retinal diseases




  • Inserm
  • CNRS
  • ANR
  • FRM
  • FFB
  • Mairie de paris
    Mairie de paris
  • Voir et entendre
    Voir et entendre
  • Institut carnot
    Institut carnot

Join us

We are looking for postdoc in molecular neuroscience and PhD student in bioinformatics

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