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Epilepsy Genetics – From Family Studies to Polygenic Risk Scores
Whilst epilepsy may be a consequence of an acquired insult including trauma, stroke, and brain tumours, the genetic component to epilepsies has been greatly under-estimated. Considerable progress has recently occurred in the understanding of epilepsy genetics, both at a clinical genetic level and in the basic science of epilepsies. The clinical evidence for genetic components will be first briefly discussed including data from population studies, twin analyses and multiplex family studies. Initial molecular discoveries occurred via classical methods of linkage and gene identification. Recent large-scale hypothesis-free whole exome studies searching for rare variants and genome-wide association studies detecting common variants have been very rewarding. These discoveries have now impacted on clinical practice, especially in severe childhood epilepsies but increasingly so in adult patients. The “genetic background” of patients has long been posited as part of the reason that some patients have epilepsy, or perhaps why some have more severe epilepsy. This has been unmeasurable but now, with the development of polygenic risk scores, the “background” is now in the research foreground. The current and future impact of polygenic risk scores will be explored.
A macaque connectome for simulating large-scale network dynamics in The VirtualBrain
TheVirtualBrain (TVB; thevirtualbrain.org) is a software platform for simulating whole-brain network dynamics. TVB models link biophysical parameters at the cellular level with systems-level functional neuroimaging signals. Data available from animal models can provide vital constraints for the linkage across spatial and temporal scales. I will describe the construction of a macaque cortical connectome as an initial step towards a comprehensive multi-scale macaque TVB model. I will also describe our process of validating the connectome and show an example simulation of macaque resting-state dynamics using TVB. This connectome opens the opportunity for the addition of other available data from the macaque, such as electrophysiological recordings and receptor distributions, to inform multi-scale models of brain dynamics. Future work will include extensions to neurological conditions and other nonhuman primate species.
Multistable structures - from deployable structures to robots
Multistable structures can reversibly change between multiple stable configurations when a sufficient energetic input is provided. While originally the field focused on understanding what governs the snapping, more recently it has been shown that these systems also provide a powerful platform to design a wide range of smart structures. In this talk, I will first show that pressure-deployable origami structures characterized by two stable configurations provide opportunities for a new generation of large-scale inflatable structures that lock in place after deployment and provide a robust enclosure through their rigid faces. Then, I will demonstrate that the propagation of transition waves in a bistable one-dimensional linkage can be exploited as a robust mechanism to realize structures that can be quickly deployed. Finally, while in the first two examples multistability is harnessed to realize deployable architectures, I will demonstrate that bistable building blocks can also be exploited to design crawling and jumping robots. Unlike previously proposed robots that require complex input control of multiple actuators, a simple, slow input signal suffices to make our system move, as all features required for locomotion are embedded into the architecture of the building blocks.