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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.
NMC4 Keynote:
The brain represents the external world through the bottleneck of sensory organs. The network of hierarchically organized neurons is thought to recover the causes of sensory inputs to reconstruct the reality in the brain in idiosyncratic ways depending on individuals and their internal states. How can we understand the world model represented in an individual’s brain, or the neuroverse? My lab has been working on brain decoding of visual perception and subjective experiences such as imagery and dreaming using machine learning and deep neural network representations. In this talk, I will outline the progress of brain decoding methods and present how subjective experiences are externalized as images and how they could be shared across individuals via neural code conversion. The prospects of these approaches in basic science and neurotechnology will be discussed.
Applications of Multisensory Facilitation of Learning
In this talk I’ll discuss translation of findings of multisensory facilitation of learning to cognitive training. I’ll first review some early findings of multisensory facilitation of learning and then discuss how we have been translating these basic science approaches into gamified training interventions to improve cognitive functions. I’ll touch on approaches to training vision, hearing and working memory that we are developing at the UCR Brain Game Center for Mental Fitness and Well-being. I look forward to discussing both the basic science but also the complexities of how to translate approaches from basic science into the more complex frameworks often used in interventions.
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