Jean-Louis Mandel is Professor of genetics at the Faculty of Medicine of the University of Strasbourg, and was Director of the Institute of Genetics and Molecular and Cellular Biology (IGBMC) in Strasbourg from 2002 to 2006. He directed a leading laboratory for molecular diagnostics of genetic disease at Strasbourg’s Regional and University Hospital Centre and held the position of Professor of human genetics at the Collège de France from 2004 to 2016. Since 2017, he is the president of the Scientific Council of the Foundation for rare diseases.

Professor Mandel led a research team at IGBMC that has, since 1982, been dedicated to the analysis of genetic diseases. His laboratory has identified a number of genes that, when mutated, are responsible for hereditary diseases that affect the nervous or muscular system. Moreover, Professor Mandel has developed diagnostic tests for hereditary diseases, especially for fragile X syndrome, and continues his research activities.

In 2014, Professor Mandel launched the international project GenIDA: Genetically determined Intellectual Disabilities and Autism Spectrum Disorders, an online cohort study whose main objective is to gather information on the natural history, medical complications, behavioural disorders and responses to pharmacological treatments for patients affected by intellectual disabilities (ID) and / or autism spectrum disorder (ASD) of genetic origin. The aim is to improve the understanding and management of these disorders by enabling the pooling and analysis of information provided by families at the international level.

He sits on the scientific boards of several associations for patients affected by specific genetic diseases. He is permanent member of the French Academy of Sciences since 1999, and was elected as permanent member of the National Academy of Medicine in 2017.

Jean-Louis Mandel is a recipient of the 1999 Louis-Jeantet Prize for Medicine, the 2006 Grand Prix Foundation for Medical Research, and the 2009 Prize of the French National Academy of Medicine. He was furthermore made Knight of the French Legion of Honour in 2008.