Katherine Roche, NINDS, National Institutes of Health, USA
Synaptic dysfunction and neurodevelopmental disorders: insights from rare variants
Dr. Roche is a Senior Investigator and Chief of the Receptor Biology Section within the National Institute of Neurological Disorders and Stroke (NINDS) at the National Institutes of Health (NIH) in Bethesda, Maryland. Over the last two decades, Dr. Roche has studied the molecular mechanisms that underlie synaptic plasticity at excitatory synapses. Her research program has focused on revealing the mechanisms that regulate the targeting of glutamate receptors and other postsynaptic proteins to synapses. More recently, her research program has shifted to emphasize findings from human genetics to better understand the synaptic dysfunction underlying neurodevelopmental disorders. In particular, the Roche lab investigates rare variants in NMDA receptors (GRINs), the neuroligin family of adhesion molecules (NLGNs), and postsynaptic scaffolding proteins (MAGUKs; SHANKs; TRIO). Using molecular and biochemical approaches, her lab characterizes protein and synaptic dysfunction and generates related mouse models to study in an in vivo context.