Description:

Adam Gordon, Ph.D.
Assistant Professor, Department of Pharmacology and Center for Genetic Medicine

"Incidental and Pharmacogenetic Findings in Personal Genome Sequencing"

Rapidly increasing availability and interest in personal genomics is radically shifting the genetic testing landscape away from traditional, indication-based single-variant or gene tests towards broader panel/exome/genome testing, often in individuals without an indication for testing. Though this shift is accelerating, driven partly through broad-scale sequencing efforts like All of Us, we are only now beginning to understand the rates and types of actionable, pathogenic, and uncertain variation that will be newly uncovered. This talk will explore these issues through my current research in the eMERGE network, and propose new high-throughput approaches to tackle challenges in variant interpretation.

Kendall Foote
PhD Candidate, Labs of Dr. Geoff Swanson and Dr. Dane Chetkovich

"TRIP8b Phosphorylation is Altered in Epilepsy and Modulates HCN Channel Function"

Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels in the hippocampus are important regulators of neuronal excitability. Their properties are altered in epilepsy states, suggesting that altered HCN channel function may underlie development of epilepsy. We have studied an auxiliary subunit of these channels, called TRIP8b, to determine the mechanism of reduced HCN channel function in epilepsy. This project has identified a phosphorylation site on TRIP8b that changes over the time course of epileptogenesis and can influence HCN channel function.