Award-winning project
Since the start of her medical studies, Dr. Julia Fuchs has been interested in neuronal cell dysfunction in the pathogenesis of neurodegenerative diseases. Since 2019, she has been developing a new line of research, aimed at understanding the role of transposable elements in the physiology and pathophysiology of age-related neurodegenerative diseases such as Parkinson's and Alzheimer's. Transposable elements cover almost half of the human genome and have (or have had) the potential to mobilize, i.e. to change location and/or amplify in the genome. Formerly regarded as "junk DNA", they have recently been recognized for their potential as gene regulators and their impact on the evolution of genomes including the human genome, and could be implicated in certain diseases. Indeed, transposable elements can have multiple toxic cellular consequences, such as genomic instability or chronic inflammation. His work has shown that activation of a family of transposable elements, LINE-1, in dopaminergic neurons affected by degeneration in Parkinson's disease, initiates genomic instability and leads to neurodegeneration. Furthermore, the induction of epigenetic alterations in these neurons leads to early LINE-1 activation and subsequent neurodegeneration. The "de-repression" of LINE-1, for example during aging, could therefore be a central player in the pathogenesis of neurodegenerative diseases. The NRJ-Institut de France Scientific Grand Prize will enable Dr. Julia Fuchs's team to pursue this original line of research and better characterize the regulation and mode of action of transposable elements at molecular and cellular level. Her work could lead to the development of new therapeutic approaches for the treatment of neurodegenerative diseases.
