Jean-Louis Mandel
Chair of Human Genetics
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 French Foundation for Rare Diseases (FMR).
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 - Genetics of Intellectual Disability and Autism Spectrum Disorders - an online cohort study that is financed to a large extent with funds from his USIAS Chair and 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 level1. For certain cohorts, specific studies have been carried out2, 3. One example is the Koolen-de Vries syndrome (KdVS), where analysis of the data collected from 237 patients has revealed hitherto unreported aspects of the disease4 and led to specific studies to characterise the musculoskeletal5 and ophthalmological6 problems associated with this syndrome. The resulting medical data has been transposed into clinical recommendations that directly benefit patients and their families7.
Jean-Louis Mandel 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. He is a recipient of the 1999 Louis-Jeantet Prize for Medicine, the 2006 Grand Prix Foundation for Medical Research, the 2009 Prize of the French National Academy of Medicine, and the 2022 Kavli Prize in Neuroscience. He was furthermore made Knight of the French Legion of Honour in 2008.
- Interview with Jean-Louis Mandel at the occasion of the Kavli Prize 2022
- Contact details
-----------------------------
REFERENCES
[1] Burger et al. (2022) Journal of Neural Transmission, https://doi.org/10.1007/s00702-022-02569-3
[2] Durand et al. (2022) Clinical Genetics, https://doi.org/10.1111/cge.14190
[3] Coutelle et al. (2022) BMC Psychiatry, https://doi.org/10.1186/s12888-022-04213-6
[4] Colin*, Burger* et al. (2023) Genetics in Medicine Open, https://doi.org/10.1016/j.gimo.2023.100817
[5] Bouman et al. (2023) American Journal of Medical Genetics, A, https://doi.org/10.1002/ajmg.a.63334
[6] Shalev et al. (2023) Canadian Journal of Ophthalmology, https://doi.org/10.1016/j.jcjo.2023.11.021
[7] Thevenon, Marey, Gauthier, et al. (2023) PNDS - Syndrome de Koolen de Vries
