Jean-Louis Mandel received his Kavli award on September 6, 2022

Prix et distinctions |

Jean-Louis Mandel is one of the winners of the 2022 Kavli Prize in the field of neuroscience. The award ceremony took place on September 6, 2022 during the Kavli Prize Week. Jean-Louis Mandel is the only French scientist to be awarded this year.


Jean-Louis Mandel, awarded for his work on a mechanism common to more than 50 genetic disorders

Former University Professor - hospital practitioner (PU-PH) and former director of the IGBMC, Jean-Louis Mandel discovered the mechanism of unstable repeat expansions. Working on an unusual mutation in an X chromosome gene causing Fragile X syndrome, he showed that the mutation was in fact an unstable expansion of a chain of triple-letter repeats in the FMR1 gene that disrupted the transcription step of the gene and the production of a protein essential for proper brain function, the FMRP protein.

This still unknown mechanism was later shown to be responsible for Huntington's disease and about fifty other genetic neurological diseases. This discovery has also led to the development of therapeutic treatments, such as the one developed by Hervé Moine and Nicolas Charlet-Berguerand for the neurodegenerative syndrome FXTAS.

Jean-Louis Mandel continues to work with the team led by Amélie Piton on the identification of genes involved in other genetic forms of intellectual disability and autism. In 2016, the scientist also launched, in collaboration with USIAS, an international participatory research platform to study the clinical manifestations of these genetic diseases: the GenIDA project.