Congratulations to our President Jean-Louis Mandel, winner of the Kavli 2022 Prize!
The Norwegian Academy of Sciences and Letters announced on June 1 the winners of the prestigious Kavli 2022 Prize in the fields of astrophysics, nanoscience and neuroscience. Our president since 2017, Jean-Louis Mandel, former university professor - hospital practitioner (PU - PH), former director of the Institute of Genetics and Molecular and Cellular Biology (IGBMC) in Strasbourg and currently professor emeritus at the University of Strasbourg and honorary professor at the Collège de France is one of them and the only French person in the list of winners! He was awarded the Kavli 2022 Prize in Neuroscience.
The award recognizes his discoveries of an unusual mutation in a gene on the X chromosome that causes Fragile X syndrome, an inherited form of intellectual disability and autism that occurs most often and most severely in males. He showed that the mutation is the unstable expansion of a chain of triple-letter repeats in the FMR1 gene. Long repeats disrupt the transcription of the gene and the production of the FMRP protein, which is essential for proper brain function. Jean-Louis Mandel's work has improved the diagnosis and genetic counseling of Fragile X syndrome, a rare disease estimated to affect 10,000 French people.
Today, "unstable repeat expansions" are recognized as a common pathological mechanism responsible for more than 50 genetic disorders, including several also identified by Jean-Louis Mandel's team. In many of these disorders the number of repeats may increase in successive generations and the symptoms appear earlier and are more severe. Understanding these unstable repeat expansions provides a model for many neurological diseases.