Dr. David Dyment is a clinical investigator at the CHEO Research Institute and Associate Professor at the University of Ottawa. He completed his graduate training in the genetics of complex disease at the University of Oxford and later medical training at the University of Calgary. His clinical interest is neurogenetics with a focus on epilepsy and he works as a clinician in the Neurogenetics program at CHEO.
His current research interests include the identification of genes for human malformation syndromes and also novel genes associated with forms of epilepsy. In addition, he has an active interest in model systems for Dravet syndrome and Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy. He is the recipient of a CIHR Clinical Investigator award and has a University of Ottawa Tier 2 Research Chair in Epilepsy Genetics.
Epilepsy genetics: Current knowledge, applications, and future directions
Drug screening with in vitro and in vivo models of epilepsy can potentially facilitate new treatment strategies.
Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE
Vasopressin was used to successfully treat refractory hypotension and anuria in the neonate born at 27 weeks of gestation.
Evidence for Clinical, Genetic and Biochemical Variability in Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
The results of the WES and the functional studies prompted an electromyography (EMG) study that showed evidence of motor neuron disease despite only mild proximal muscle weakness.
Mutations in PIK3R1 Cause SHORT Syndrome
Our findings show that PIK3R1 mutations are the major cause of SHORT syndrome and suggest that the molecular mechanism of disease might involve downregulation of the PI3K-AKT-mTOR pathway.