Jean-Louis Mandel was born in 1946 in Strasbourg (France). He received his MD and PhD from University of Strasbourg, and is currently Professor of Genetics at the Faculty of Medicine of Strasbourg, and Head of the Human Molecular Genetic Group at the Institut de Génétique et de Biologie Moléculaire et Cellulaire (CNRS, INSERM, Université Louis Pasteur). He has received the Baschirotto Prize from the European Society of Human Genetics (1998) and the Louis-Jeantet Prize (Geneva, 1999). He has been involved in research on Fragile X since 1983, in the identification and characterization of several disease genes, and notably in the analysis of diseases caused by trinucleotide repeat expansions.

Professor Mandel is also the Director of the DNA Diagnostic Laboratory for Genetic Diseases, at the Faculté de Médecine and University Hospital in Strasbourg, that conducts tests for about 30 diseases, and he is on the scientific board of several associations for patients affected by specific genetic diseases.