Rate My Professor Amy Jones

Dr. Amy Jones is an Assistant Research Fellow in the Department of Paediatrics and Child Health at the University of Otago's Dunedin School of Medicine, Faculty of Medicine. She is a member of the Laboratory for Genomic Medicine and the Clinical Genetics Group, where she investigates the genetic underpinnings of developmental disorders, with a focus on metabolic contributions to neurodevelopment. Jones completed her BSc (Hons) in 2019 at the University of Otago, researching Pseudomonas aeruginosa, the bacterium primarily responsible for lung infections in cystic fibrosis patients. She began her PhD in 2020 in the Clinical Genetics group, utilizing genetic and biochemical techniques to examine how glutamine, one of the most abundant amino acids in the human body, influences neurodevelopment. Her thesis, titled 'Glutamine metabolism in neurodevelopment,' was awarded in 2025.

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.