In the 36-minute lecture titled "Rare Glutamate Receptor Variants Associated with Neurodevelopmental Disorders" by Dr. Ian Coombs from University College London, UK, the discussion revolves around rare diseases and their research, with a specific focus on diagnosing and understanding neurodevelopmental disorders associated with ionotropic glutamate receptors (iGluRs). The lecture covers the intricate functions of iGluRs, particularly the collaborative roles of AMPARs and NMDARs. Dr. Coombs delves into GRI disorder, emphasizing the diverse symptoms resulting from de novo variations and detailing the assessment of the effects of GRI variants. The lecture explores the classification of variants as 'loss-of-function' or 'gain-of-function,' paving the way for discussions on potential treatments for GRI disorder. Furthermore, Dr. Coombs addresses the broader implications of GRI receptor defects in other diseases and concludes by contemplating the potential role of gene therapy as a therapeutic approach for these rare neurodevelopmental disorders.For further details,Play a video