Dravet Syndrome Foundation Research Newsletter
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Joseph G. Gleeson, MD is Professor of Neurology and Pediatrics and Investigator of the Howard Hughes Medical Institute at the University of California San Diego.  The Gleeson Lab is interested in understanding how genes regulate brain development and function.  To study this, we identify genes that are mutated in children with epilepsy, ataxia and/or intellectual disabilities, and then study how these genes cause these disorders using model systems.

 

In our current study of Dravet syndrome in the Gleeson Lab, we are using Target Capture and Next Generation Sequencing technology to sequence every exon of the genome (the exome) in a cohort of patients with Dravet syndrome who do not have mutations in SCN1A.  Using this strategy will allows us to determine if mutations in additional genes cause or contribute to Dravet syndrome and will allow us to examine the complex genetic profile of patients with Dravet at a level that has never been studied.

 

Tracy Dixon Salazar, PhD is a Postdoctoral Fellow in the Gleeson Lab and is the lead researcher on the Dravet syndrome project.  Tracy has extensive research experience in identifying genes that cause human brain disorders and has been working to bring the exciting new technology of whole exome sequencing to the Gleeson lab.  Tracy also has a personal connection to epilepsy and her youngest child suffers from idiopathic Lennox-Gastaut Syndrome.  Her professional and personal experiences highlight both her capacity to lead the proposed research project and her passion to understand what causes, and eventually how to cure, the catastrophic epilepsies of childhood.