Isabelle Le Ber

Research work

Dr Isabelle Le Ber, MD, PhD is PI at PBI/ICM and senior neurogeneticist at the Pitié-Salpêtrière Hospital. She is an internationally recognized expert in the field of Frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) diseases spectrum, and in human and molecular genetics. She led the European ERN-RND for FTD, the French National Reference Centre for FTLD, and the Inserm FTLD/ALS disease research network.

Her research work primarily aims to uncover molecular mechanisms and disease-specific biomarkers of FTLD/ALS and TDP-43 proteinopathies using integrated genomic, bulk and single nuclei transcriptomic and neuroimaging approaches. She has played major roles in identifying disease-causing genes and genetic modifiers and has assembled one of the largest clinical and biological cohorts in the field. She is the organizer of “I’s on TDP-43- Initiatives on TDP-43”, a European meeting on TDP-43. She is also at the forefront of researches on the presymptomatic stage of genetic FTLD/ALS, coordinating major national PS cohorts (Predict-PGRN, PREVDEMALS, StratALS). Her work combines cognitive, imaging, and fluid biomarkers to better characterize the preclinical stages of disease. She is member of major international consortia (GENFI, FPI, NIC-FTD) contributing to global efforts to define the PS stage of FTLD/ALS and She is also a leading figure in the field of clinical trials in France, acting as national coordinator or investigator for several major trials in genetic forms of FTLD/ALS.