Rate My Professor Amy Jones

Jones served as lead author on a pivotal 2024 publication in the American Journal of Human Genetics, titled 'Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.' The study identified genetic variants at the start of the GLUL gene that stabilize glutamine synthetase, leading to excess glutamine production and brain development disruption, defining a new disorder characterized by seizures and developmental delays. DNA from affected children worldwide was sequenced, offering diagnostic potential and insights into glutamine regulation. She also co-authored a 2025 paper in Brain, 'A functional role for septin-2 in the maintenance of the axon initial segment and in human cognitive development,' revealing how SEPTIN2 mutations disrupt axon initial segment integrity, Ankyrin G binding, neuronal excitability, and cognitive function. Her research provides answers for affected families and advances knowledge of neurodevelopmental genetics.