Gemma Louise Carvill

The primary aim of our research is to identify the genetic factors and biological mechanisms that cause epilepsy. We use a variety of sequencing technologies to identify new genetic causes in both the DNA regions that code for proteins (genes) and those that control the expression of these genes (regulatory regions). The second mission of our lab is to capitalize on the advances in gene discovery in epilepsy to create neuronal models of this disorder. Many of these 'epilepsy' genes are involved in the control of expression of other genes. In other words, they are responsible for switching certain genes ‘on’ or ‘off’ during the development and/or functioning of the brain. This switching is dependent on the 3D structure of DNA – called the epigenome. We use stem cell biology to create models of these ‘epigenetic’ genes to study how mutations affect the structure of the epigenome and the pathways affected. Identifying these pathways are the first step in finding new targets for therapeutics.