The Genetics Department of the University Hospital of Tours and the “Neurogenomics and Neuronal Pathophysiology” team within the UMR1253 iBraiN research unit adopt a cross-disciplinary approach aimed at identifying and characterizing the molecular mechanisms underlying neurodevelopmental disorders.
A collaborative research project was initiated to find additional individuals carrying DPYSL5 deleterious variants. Functional analyses are carried out—primarily using neuronal cell culture models, such as mouse embryonic hippocampal neurons and human neural precursors derived from iPSC (induced pluripotent stem cell) lines—to investigate the impact of potentially pathogenic variants on neurodevelopment.
These studies specifically aim to better understand the impact of DPYSL5 gene variants on brain (neuronal) development, to provide more detailed information on the possible symptoms and clinical progression in affected individuals, and to explore the molecular underpinnings that may one day support the development of targeted therapies.
DPYSL5