Elucidating the Role of DNA Repair Mechanisms in Neurodevelopmental Disorders
Aperçu du projet
This research aims to unravel the mysteries of Rett syndrome (RTT), a severe neurodevelopmental condition primarily affecting girls, characterized by mental and physical impairments. The focus is on the role of two proteins, Fanconi Anemia Group J protein (Fan1) and methyl CpG binding protein-2 (MECP2), which are essential for the brain’s development and the repair of its genetic material. Just as finding the right place for each puzzle piece is crucial to seeing the full picture, understanding how these proteins function and interact in brain cells will help reveal the overall landscape of RTT. The study will use advanced genetic and cellular techniques, akin to employing a magnifying glass to examine each puzzle piece in great detail, to observe how alterations in Fan1 and MECP2 affect the brain’s architecture, particularly the cerebral cortex, which is significantly impacted in RTT. By deciphering the role of these proteins in maintaining DNA integrity and brain cell health, researchers hope to identify new paths to treatment, much like how completing sections of a puzzle gradually unveils the image it represents. The innovative project uses advanced genetic tools to visualize and measure the impact of these proteins at the single-cell level, providing a detailed picture of their role in brain development. The insights gained could also illuminate the mechanisms underlying other neurological disorders, suggesting that solving this intricate puzzle of RTT might help unlock mysteries of brain diseases more broadly, offering hope for improved therapies and understanding.
Chef d'équipe
Robert Beattie , The University of Manitoba