Jean-Louis Mandel

Jean-Louis Mandel, born in Strasbourg on February 12, 1946, is a French medical doctor and geneticist, and heads a research team at the Institute of Genetics and Molecular and Cellular Biology (IGBMC).

Doctor of Medicine (1971) and Doctor of Science (1974) from the University of Strasbourg (theses prepared under the supervision of Prof. Pierre Chambon), Jean-Louis Mandel was Associate Professor of Biochemistry at the Faculty of Medicine of the University of Strasbourg from 1978 to 1984, then Professor of Medical Genetics at the same Faculty from 1984 to 2003 before being appointed to the Chair of Human Genetics at the Collège de France.

Since 1982, Jean-Louis Mandel has been working on the identification of genes and mutations responsible for rare inherited monogenic diseases affecting the nervous system and/or muscles.

He has also contributed to the development of diagnostic tests and the analysis of pathophysiological mechanisms for several of these diseases, using animal or cellular models in particular.

In 1991, his team showed that Fragile X mental retardation syndrome, the most common cause of hereditary intellectual disability, is due to the expansion of a CGG repetition associated with localized abnormal DNA methylation (Oberlé et al. Sciences, 1991).