Dr. Agnès Rötig
Mitochondrial disorders (MDs) are incurable deficiencies of energy production in the cell. They are clinically and genetically heterogeneous, poorly understood, and are considered incurable. Gene therapy holds great promise for the treatment of genetic diseases including MDs.
This project will develop a gene therapy treatment for mitochondrial disease caused by mutations in the RNA stability factor LRPPRC. Specifically, we will perform preclinical in vivo analysis of the usability of a gene therapy construct carrying LRPRPC to rescue respiratory chain function in Lrpprc-deficient mice. Knowledge accumulated during this project can be applied to the development of similar cures for mitochondrial diseases with other underlying mechanisms.
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