Understanding SCN8A and voltage-gated sodium channelopathies
DateTuesday, March 12, 2019 - 4:00pm
AbstractEpilepsy is one of the most common childhood neurological conditions affecting roughly 1% of children younger than the age of 15 years. Epileptic events that occur early in a child’s life can range in severity from ‘benign’ instances where a child outgrows their seizures to more severe cases with drug-resistant seizures. In fact, there are over 50 forms of early infantile epileptic encephalopathies (EIEE) caused by different genes several of which are within voltage-gated ion channels such as SCN8A. SCN8A variants are associated with intractable epilepsy beginning in infancy with seizure onset occurring within the first 18 months of life. The phenotypic spectrum of SCN8A also ranges from mild to severe with onset of developmental delay occurring anywhere from just after birth to just after seizure onset. It is currently unknown which variants lead to benign or severe developmental outcomes. Current in silico variant prediction models, like PolyPhen-2, are being used to predict the pathogenicity of variants based on evolutionary conservation, however these tools often miss the mark. Finding patterns and trends in the variant position and developmental acquisition in these children are key in understanding SCN8A-related disorders.
Detecting ancient epidemics in present human genomes
DateTuesday, March 19, 2019 - 4:00pm
AbstractModern humans migrated out of Africa about 60,000 years ago. As they started colonizing the new environments of Eurasia, they found that they were not the first humans to have ventured out of Africa. Neanderthals had preceded them and colonized the cold prehistoric Eurasia hundreds of thousands of years before. Modern humans and Neanderthals then not only came in contact with each other, but also interbred with each other. This interbreeding, however, hid an invisible poison: Neanderthal viruses that rapidly infected modern humans. At the same time however, Neanderthals gave us the antidote as a gift: genes from their genome that gave us resistance against their own viruses. Remarkably, these Neanderthal genes are still present is specific modern human populations to this day, and make it possible to identify which viruses Neanderthals infected modern humans with when they interbred. In other words, evolutionary genomicists have opened a new window on long-gone and forgotten epidemics.
Machine learning in optical microscopy
DateTuesday, March 26, 2019 - 4:00pm
AbstractI will be discussing how deep learning may be used to enhance image resolution in optical microscopy. It is thought that this approach might be particularly useful for cases where the microscope's point spread function is not space-invariant. However, concerns exist about the occurrence potential artifacts.