Mathieu Barbier

After a Ph.D. of Immmuno- Genetics at Aix-Marseille-University dedicated to the Human Genetics of Malaria, I moved to several post-doc positions to decipher the genetic bases of clinical variability in monogenic disorders with various approaches. In 2016 I joined the Paris Brain Institute to focus on Frontemporal Dementia (FTD) with Dr. Isabelle Le Ber. FTD represents a group of heterogenous disorders illustrating major dysfunctions of notably the frontal lobe. Genetic forms of FTD, especially due to mutations in GRN and C9orf72, are perfect examples of monogenic disorders characterized by a clinical variability in terms of clinical symptoms, or extremely variable and unpredictable ages at onset among carriers of the same genetic defect. I get a permanent position (CRCN Inserm) in 2023 to pursue our investigations which include molecular and bioinformatic approaches.

The finding of genetic modifiers of FTD illuminates first the biological processes influencing the severity of the disease, and second could serve as biomarkers that are needed at the time of clinical trials.

Besides, I give Lectures in Human Genetics on a regular basis since 2004.