Available: 11/25/19, Expires: 12/29/22
Project 1: Human genetics of epilepsy: We have >400 cases of 'unsolved' presumed genetic epilepsy that we have aggregated at Boston Children's for phenotyping and sequencing. Student activities could include evaluating the phenotype (history, EEG and MRI data) and classifying epilepsy type, genetic analysis, and correlating the phenotype with genetic variants. We have a multi-disciplinary team and can identify a project on which students can participate as well as sub-projects for students seeking a first-author publication.
Project 2: Zebrafish models of epilepsy: For known and possible (candidate) genes for epilepsy, we are using CRISPR/Cas editing to create zebrafish models. Student roles can include construct design, zebrafish larvae phenotyping (seizures, learning, behavior, calcium imaging, in situ) as well as gene-specific in-depth studies of the neurodevelopmental effects of deleting or knocking mutations in to this model system.
Students in both groups are invited to participate in weekly lab meetings focusing on human genetics/clinical research or zebrafish modeling/bench research as well as joint meetings every alternate week of our combined Epilepsy Genetics Program.